جستجوی مقالات مرتبط با کلیدواژه « پلی مورفیسم » در نشریات گروه « پزشکی »

Lung cancer is one of the deadliest cancers in the world, early detection of lung cancer is one of the biggest challenges in treating this disease and can be very effective in saving patients. Considering the role of microRNAs in the development and progression of lung cancer, the effective factors in the expression and function of microRNAs, including the polymorphisms in the genes of microRNAs, can be used as biomarkers for the early diagnosis of lung cancer. This study aims to investigate the relationship between single nucleotide polymorphisms (rs4919510) of miR608 and (rs6505162) of miR-423 with the risk of lung cancer.

In this case-control study, genotypic analysis of rs6505162 miR-423 and rs4919510 miR-608 polymorphisms was performed on two groups including 110 lung cancer patients and 120 healthy individuals by PCR-RFLP method. After receiving the consent form from the patients, 5 ml of venous blood was collected from each of the study subjects, and the genomic DNA of each person was extracted using the salt precipitation method, the quality of the DNA was measured by absorption spectroscopy, and then all the samples were PCR And by using restriction enzyme digestion by Rsa I and PVUII enzymes, the genotype was determined for both polymorphisms. In the last step, the results of enzyme digestion were checked by electrophoresis on 2% agarose gel, to confirm the RFLP results from sequencing. Random samples were used. Statistical analysis of data was done with SPSS software.

In the investigation of mrs6505162 polymorphism in miR-423, the frequency distribution of CC, CA, and AA genotypes in lung cancer patients was 42.7, 34.5, and 22.7, respectively, and in the control group, 30.8, 54.2, 15, respectively which did not have a significant difference. The genotype CA compared to CC and also CA compared to CC+AA was related to the reduction of lung cancer (P=0.009, 95% CI: 0.256-0.829,
OR=0.460; P=0.003, 95% CI: 0.262-0.760, OR=0.447) which can indicate the protective role of this genotype. In the investigation of rs4919510 polymorphism in miR608, the frequency of allele G was 16.4% in the patient group and 20.4% in the control group, and the frequency of allele C was 83.6% in the patient group and 79.6% in the control group. This allele frequency was not statistically significant with a probability ratio of 0.763 and a confidence interval of 1.227-0.474 (P=0.263). No significant difference was observed between the group of cancer patients and control subjects. Codominant, Dominant, Over dominant, and Recessive, statistically no significant difference was observed.

According to our findings in miR-423, the CA genotype in rs6505162 polymorphism can have a protective role in lung cancer, but rs4919510 polymorphism in miR-608 was not significantly associated with lung cancer, further studies with more samples are suggested to confirm these findings.

Mitral valve prolapse is a cardiac condition affecting the valve between the heart's left chambers, with genetic factors playing a significant role. This study aimed to assess the relationship between ACE gene deletion/insertion polymorphism and mitral valve prolapse in Mazandaran Province, located in northern Iran.

This case-control study included 90 patients with mitral valve prolapse and 95 healthy individuals as the control group. Genomic DNA was extracted from blood leukocytes, and genotypes and allelic frequencies were determined using the GAP-PCR method.

The frequencies of II, ID, and DD genotypes of the ACE gene in patients were 22.22%, 42.22%, and 35.46%, respectively, while in the control group, they were 32.63%, 45.26%, and 22.1%, respectively. A statistically significant difference was observed in the frequency of the DD genotype in patients compared to the control group (P=0.048, CI=1.00-3.70, OR=1.92). The odds ratio indicated that the D allele increased the probability of mitral valve prolapse by 1.58 times more than the I allele (OR=1.58). Furthermore, the frequency of the DD genotype was significantly higher in patients with high blood pressure (33.9%) compared to those without high blood pressure (12.7%) (P=0.02).

The results suggest a potential association between the I/D polymorphism of the ACE gene and mitral valve prolapse. However, further studies involving larger populations are necessary to confirm these findings.

Resistin is an adipokine that is secreted from adipose tissue, causing insulin resistance and fatty liver disease. This study aimed to determine the association of resistin gene rs3745368 single nucleotide polymorphisms (G>A+299) with serum resistin level, insulin resistance index, and non-alcoholic fatty liver disease (NAFLD).

This descriptive study was conducted on 160 people (80 healthy participants and 80 patients with NAFLD) who referred to Bo Ali and Amirul Mominin Hospitals in Tehran in 2022. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to determine genotype of resistin gene polymorphism rs1862513. Serum resistin and insulin levels were measured using ELISA (Enzyme-linked immunosorbent assay) method, and other parameters were measured by standard methods. Data were analyzed by SPSS statistical software (version20) using independent t test, Mann-Whitney U test, Kruskal-Wallis, ANOVA Spearman’s Correlation Test, and logistic regression test.

In the present study, significant differences were observed among two groups according to the meanlevels of HDL, triglycerides, insulin, resistin, liver enzymes and variables of age, body mass index, systolic blood pressure and HOMA (Homeostatic model assessment) (P<0.05). Significant correlations were observed between resistin levels with body mass index in healthy group and with triglyceride in patients with NAFLD (P<0.05). In the present study, RENT (Resistin) gene polymorphism rs3745368 had no significant relationship with biochemical and anthropometric variables, resistin level, insulin resistance, and non-alcoholic fatty liver (Ps>0.05).

It appears resistin levels are statistically associated with NAFLD, but RENT rs3745368 polymorphism is not statistically associated with resistin level, NAFLD, and insulin resistance.

The tomm40 gene encodes the Tomm40 protein, which is a translocase in the mitochondrial outer membrane. Changes in the tomm40 gene can lead to mitochondrial dysfunction. In this study, the association between rs2075650 polymorphism of the tomm40 gene and the possibility of type 2 diabetes was investigated.

In this study, blood was collected from 101 healthy people and 119 people with type 2 diabetes, and the DNA of the samples was extracted by salting out method. After designing the primer according to Tetra-Primer Arms method, PCR test was performed and polymorphism results were observed on agarose gel.

The frequencies of AA, AG and GG genotypes were 14.28%, 80.67% and 5.05% in the patient group and 15.84%, 81.18% and 2.98% in the control group, respectively. Also, the frequencies of A and G alleles were calculated as 54% and 46% in the patient group and 56% and 44% in the control group, respectively. The statistical analysis showed that the rs2075650 polymorphism of the tomm40 gene has no significant association with the risk of type 2 diabetes in the studied population (P<0.05).

The rs2075650 polymorphism of the tomm40 gene was not related to the possibility of type 2 diabetes in the studied population. It is suggested to conduct more studies in populations with a large sample size to confirm the findings.

Diabetes mellitus is a prevalent disease affecting a large population worldwide. Inflammation plays a crucial role in the development and progression of this disease. Interleukin-4 (IL-4) is an anti-inflammatory cytokine that can reduce inflammation. The aim of this study was to investigate the association between IL-4 gene VNTR polymorphism and type 2 diabetes in Gonabad city, Iran.

This study was a case-control study. One hundred individuals who referred to Alameh Behlol Hospital Gonabad city of Iran were included in two groups: case (patients with type 2 diabetes) and control (healthy individuals). The participants were randomly selected and entered the study after obtaining informed consent and meeting the inclusion criteria. Two milliliters of blood were collected from each participant using EDTA-containing tubes, and DNA was extracted using the salting-out method. To investigate the VNTR polymorphism, the target fragment was first amplified using appropriate primers and then identified using electrophoresis.

The mean age of the study participants was 61.98 ± 7.30 years, and half of them were male. The results of the VNTR polymorphism analysis demonstrated no significant association between IL-4 gene VNTR polymorphism and type 2 diabetes (p > 0.05).

In our study population, we found no significant association between IL-4 gene VNTR polymorphism and type 2 diabetes.

There is a serious disagreement between researchers about the genetic basis of crime. Some biologists and clinical criminologists deny the existence of a chromosome or a crime gene. Some forensic psychiatrists believe that certain alleles of genes are directly or indirectly involved in the commission of violent acts. Some consider co-perpetration to be a crime, personal psychological characteristics such as emotional intelligence. In this regard, not understanding the feelings and emotions of others and proper control of their emotions in problematic situations and failure in positive management about others, may lead to deviant behaviors such as abuse of others and crime. Among the environmental factors, the effect of "diet" and nutrition on criminal behaviors has been done by examining the relationship between alcohol, drugs, and sugar with such behaviors. Environmental pollution also affects the incidence of crime. For example, many industrial products have significantly increased environmental pollution, the toxic substances of which such as lead, mercury, and pesticides enter the human body through various methods, which are severely disrupted. Perceptual and behavioral related. About violent crime, four types of neurotransmitters have been studied more than others: serotonin, norepinephrine, and epinephrine dopamine (monoamines). Numerous studies of low serotonin replacement rates in people with a history of violent behavior.Including those who have committed fires and other violent crimes, and those who commit suicide violently. Studies of people who have been released from prison have also revealed of serotonin replacement rates. The lower they were, the more likely they were to commit violent crimes. It has been suggested that dysfunction of the central serotonin pathways is involved in the underlying mechanisms of suicidal, antisocial, and criminal behaviors. Norepinephrine and epinephrine also increase blood pressure. High blood pressure can lead to severe heart and brain problems, and because the disease has an internal and individual aspect, the person who commits the crime due to diabetes and high blood pressure and heart and brain problems is not aware of his problem and usually. He does not cite his illness to defend himself.In criminology, genes influence criminal behavior in two ways: first, by transmitting biological traits, which are discussed under the heading of "inheritance and crime." Second, through the changes that may occur in them that can be examined under "genetic disorders", one of the most important cases is disorders such as XXY or YYX.Biological markers are the most important and practical marker systems that have a wide range and are developing and evolving every day. Because they are at the first level of gene expression, they are very accurate and have high diversity and high polymorphisms.To examine the genetic aspects of a crime, the technique of determining the genetic structure is a process in which differences in a person's genetic makeup are determined by examining a person's DNA sequence by comparing it to another personalsequence or a reference sequence.The present study aimed to determine the relationship between the relative frequency of certain alleles of the gene responsible for transporting serotonin and a history of violent crime.

Perpetrators of violent crimes In this study, by the available sampling method, 50 people were selected from among the thieves of violent behaviors, including bags and mobile phones. None of the participants had a history of schizophrenia and/or antisocial personality disorder, aggression, child trauma, child abuse, or various types of abuse (based on diagnostic criteria (DSM-IV TR). Explain the scope and method of study to all participants. Was given, and informed and written informed consent was obtained from them.Two common functional polymorphisms (STin2) are VNTR-17 and 5HTTLPR in the promoter and the second intron. The transporter gene (SCL6A4) 5 is known. The former contains 16 (long; L) or 14 (short; S) repeats of 22 bases, while the latter contains 12 (long) or 10 (short) repeats of 17 bases. After venous blood sampling, DNA was extracted from venous blood. Using appropriate primers, the 5HTTLPR, and VNTR-17 (STin2) polymorphisms in the 5HTT gene were examined by AFLP analysis.

For the 5HTTLPR gene, the highest frequency belonged to the SS SS allele. Regarding the VNTR-17 gene (STin2), the highest frequency for the allele was 12.10. In the next position, 12.12, and finally 10.10 was the lowest relative frequency (24%). Therefore, the order of frequency of 5HTTLPR gene alleles in perpetrators of violent crimes is as follows: SS> SL> LL. The order of frequency of (STin2) VNTR-17 gene alleles in perpetrators of violent crimes is as follows: 10/12>12/12>10/10.

The gene for the serotonin transporter protein, which plays an important role in regulating the intensity and duration of serotonergic signaling at synapses, has long been suggested as the gene responsible for various psychiatric disorders. Previous studies have shown that gene polymorphism The transporter serotonin, 5HTTLPR (genetic polymorphism), may be associated with aggressive and antisocial behavior. The human HTT 5 gene (SLC6A4) contains a replicating element consisting of 22 bp (5 HTTLPR) that inserts/removes 44 bp, resulting in "long" and "short" types (16 and 12 bp, respectively) (14). Due to the existence of multiple control groups in previous studies that have a reference (as a group that has not committed a crime of violence) and due to the limitations of this study, if we compare the many ratios in the samples of this study with control groups of previous studies, it will become clear that a similar pattern In other words, the order of the proportions of allele frequencies in violent offenders is not different from that of normal individuals (15). However, this means that the above ratios in this study are consistent with similar offenders in other studies, for example in a study in prisons. In Siberia, Russia, the LL allele had the highest frequency and the SS allele had the lowest frequency. Although the pattern of relative abundance of gene alleles responsible for serotonin transporter production in the present study is very similar to the gene pattern of individuals with mental disorders leading to violent criminal behaviors, a causal relationship between the frequency of specific alleles of this gene and the occurrence of such behaviors cannot be deduced.

Diabetes as a heterogeneous disease is characterized by a decrease in insulin sensitivity and a defect in insulin secretion. In general, diabetes is divided into four groups, type 1 diabetes, type 2 diabetes, gestational diabetes, and diabetes of various causes. To be Emerging evidence suggests that common and rare genetic polymorphisms can influence the risk of diabetic complications. Type 2 diabetes is a heterogeneous group of disorders that is usually characterized by the inability of pancreatic beta cells to increase insulin secretion to compensate for insulin resistance in peripheral tissues. Type 2 diabetes has been diagnosed in adults and is related to obesity, lifestyle, age, family history, and genetics. Genetically, many gene polymorphisms are known to be associated with this disease. The cause of type 2 diabetes is a mixture of lifestyle and genetic factors, while a person can control some of these issues such as diet and obesity, other issues such as aging, being female, and genetics cannot be controlled. However, until now, the exact cause of this disease has not been determined and its prevalence rate is also increasing. In the last decade, the prevalence of this disease has increased alarmingly in Iran. The single nucleotide polymorphism 7903146rs is located in intron number 3 of the TCF7L2 gene, which is significantly associated with type 2 diabetes. The expression of TCF7L2 in pancreatic cells of type 2 diabetic patients compared to healthy individuals was reported to be accompanied by a decrease in insulin secretion. Apart from the effect of the TCF7L2 variant on cell structure and insulin release from the beta pancreas, several studies have also reported a decrease in insulin secretion in response to the increased expression of TCF7L2 in the pancreas. The TCF7L2 gene is a transcription factor involved in the Wnt signaling pathway, which plays an important role in the development of pancreatic islets and fat. The TCF7L2 gene is considered one of the most important candidate genes for T2DM and plays an important role in blood glucose homeostasis and function. It has beta cells. The rs7903146 variant is one of the most important variants that has been proven to be related to diabetes in other populations, but so far no study has been conducted in East Azerbaijan on the relationship between the role of TCF7L2 in the development of type 2 diabetes, so the present study aims to investigate the relationship between poly The Morphism of rs7903146 in the TCF7L2 gene was performed in patients with type 2 diabetes in East Azerbaijan.

101 unrelated patients were invited to the diabetes clinic to provide blood samples. The basic information of the patients such as BMI, gender, and age was recorded in a questionnaire, and to comply with the ethical principles, a tracking code was inserted at the top of each questionnaire. Also, 101 unrelated healthy people were selected from the general population to call the control subjects. In this study, about 2 cc of blood samples were taken from each person and collected in tubes containing EDTA. The collected samples were transferred to the laboratory with a flask containing dry ice and kept at -20°C until extraction. The tubes containing the blood samples of patients and controls were numbered separately, and their gender was also noted on the tubes. After DNA extraction from all samples and quality assessment of the samples with specific primers, PCR and electrophoresis were performed. Took finally, the PCR products were treated with RSal restriction enzyme and electrophoresed again, and the target polymorphism was checked.

The frequency of genotypes was found as TT=33.7, CC=16.8, and CT=49.5 (percentage) for healthy people and the frequency of genotypes in sick people was found as TT=43, CC=14, and TC=43. = (percentage) was calculated. The percentage of the T allele in healthy and sick people was reported as 42.1% and 64.5%, respectively, and the percentage of the C allele in healthy and sick people was reported as 57.9% and 35.5%, respectively.

Because today diabetes is spreading all over the world as an unprecedented epidemic and also considering the role of genetic factors in the development of type 2 diabetes, it is necessary to investigate the genes related to this disease. It seems in the present study, the results showed that the frequency of the C allele, which is the dominant allele, is 57.9% in the healthy group, and 35.5% in the patient group, which shows a 22% decrease, and the frequency of the T allele, which is the polymorphism allele. It is 42.1% in the healthy group and 64.5% in the patient group, which 22% increase in the patient group shows that there is probably a relationship between the increase of the T allele and the risk of type 2 diabetes and the risk The incidence rate in the patient group is 2.501, and since it is more than one, there is a risk of contracting the disease, while the risk rate in the healthy group is 638.00, which is less than one. On the other hand, the frequency of genotypes was found as TT=33.7, CT=16.8, and CC=49.5 (percentage) for healthy people, and in sick people, the genotype frequency was as TT=43, CC=14, and TC = 43 (percentage) was calculated. The results of this study show that the types of polymorphisms are a factor for genetic diversity and determine the phenotypic diversity between people, and it may affect the susceptibility of people to diseases and the progression of diseases and polymorphisms. A gene shows a significant relationship with the probability of diabetes. In this study, the possibility of the association of rs7903146 polymorphism with diabetes has been determined, so it can be said that rs7903146 polymorphism can be used as an indicator and marker to detect the susceptibility to diabetes in other research, and considering that this polymorphism Gene Morphism shows a different frequency distribution in different regions, it seems that studying target gene variants in different populations to find their relationship with diabetes is important.

Colorectal cancer (CRC) is the third most common cancer and the fourth cause of death due to cancer. Several genes with different penitence, as well as different genetic variants, have been identified in CRC risk. Based on the studies, the TOX2 gene is proposed as a candidate gene for CRC. In the present study, the relationship between rs6065668 polymorphism and TOX2 gene expression was investigated with the risk of CRC.

In the present study, 2 CC of venous blood was collected from 50 patients referred to the Imam Hassan Mojtabi Cancer Treatment Center in Dezful, and 50 healthy individuals as a control group (matched in terms of age and gender). In this study, rs6065668 polymorphism of the TOX2 gene was investigated by High-Resolution Melting (HRM) technique and gene expression by the Real-time PCR method.

The frequency of genotypes in patients was 42% for the CC genotype, 46% for CT, and 12% for TT, and in the control group, CC, CT, and TT genotypes were 26%, 54%, and 20%, respectively, which had no significant difference between the groups and as well as the results of gene expression were not significantly different between groups and different genotypes.

Considering that the frequency of CC, CT, TT genotypes as well as TOX2 gene expression did not show a statistically significant difference between CRC patients compared to healthy subjects, the results of this study showed that changes in TOX2 gene are not related to the risk of CRC.

Asthma is a common inflammatory disease of the airways which is characterized by variable and recurrent symptomes. The disease causes airways inflamtion and hyperresponsiveness, reversible airways obstruction and airway deformity and  accomponied with symptoms including shortness of breath, cough and wheezing in patients. Environmental and genetic factor  such as gene polymorphisms are involved in the development of asthma. Gene polymorphisms alter the function of genes, hence they involve in disease progression. Studies have shown genetic polymorphism in ADAM33 and TBX21 genes are associated with the risk of asthma.

In present study the polymorphism rs2787094 of ADAM33 and rs11650354 of TBX21 genes was assessed for the first time in Iranian asthma patients and healthy individuals. For this purpose, 30 blood samples from asthma patients and 30 samples from healthy donors was collected. Then DNA was extracted, and subsequently ARMS-PCR technique was used, applying specific designed primers for normal and mutant allels for each polymorphism of candidate genes and then the results were analysed.

The results indicated rs2787094 polymorphism in ADAM33 was significantly associated with the risk of asthma, while there was no significant relation between rs11650354 in TBX21 with asthma risk.

It seems that rs2787094 polymorphism in ADAM33 and different genotype in this locus play siginificant role in asthma risk in Iranian patients.

Circadian rhythms are natural processes that regulate the sleep-wake cycle and are repeated approximately every 24 hours and controlled by an internal circadian clock. Incorrect functioning of the circadian clock system disrupts the normal sleep pattern. The molecular regulation of this system is done by several clock genes, the most important of which is the CLOCK gene that encodes a transcription factor that plays a central role in regulating the molecular circadian clock. In this study, the rs1801260 polymorphism of the CLOCK gene was investigated in Iranian patients with insomnia.

In this study, 60 blood samples were collected from people with profound problems of insomnia, inability to control sleep and irregular sleep as the patient group and 60 samples from people without any history of insomnia or sleep disorder as the control group. Then DNA was extracted and rs1801260 polymorphism was assessed by ARMS-PCR using specific primers for normal and mutated alleles and the results were analyzed.

According to the results, 50% of patients had GG, 36.7% had AG and 13.3% had AA genotype. In the control group, the frequency of GG, AG and AA genotypes was 30%, 26.7% and 43.3%, respectively. Also, this polymorphism is significantly associated with insomnia in patients (p<0.05) and has no significant relationship with gender, age and lifestyle of patients.

These findings show that the rs1801260 polymorphism and the presence of the G allele in this position have a significant relationship with sleep disorder and it seems to play an important role in occurrence of insomnia in the Iranian population. Therefore, checking the CLOCK gene in patient or susceptible people can be helpful for effective prevention and treatment of the disease.

Systemic lupus erythematosus (SLE) as an inflammatory autoimmune disease, originates from the production of autoantibodies against several cellular components, especially nuclear components such as DNA. Prolactin consists of 199 amino acids and due to the structural similarity with cytokines, this polypeptide has the ability to modulate the immune system, which is characterized by the observation of hyperprolactinemia in autoimmune disorders. The rs1341239 polymorphism of the prolactin gene is associated with several autoimmune diseases. The purpose of this study is to investigate the relationship between this polymorphism and prolactin serum level in SLE patients in a population from Iran.

Genotype analysis of prolactin rs1341239 gene polymorphism was performed using blood samples of 90 SLE patients as patients’ group and 90 control samples as the control group through RFLP-PCR method. Also, serum prolactin concentration was measured using ELISA method.

Our results showed a significantly higher serum level of prolactin in patients group than in the control group. There was no significant difference in alleles and genotypes frequencies of rs1341239 polymorphism in patients group compared to the control group. However, a significant correlation was found between the frequency of GG genotype and the reduction of platelets in the blood of patients group.

Our results did not show a significant difference in the frequency of prolactin rs1341239 gene polymorphism in patients and control groups, while we observed the relationship between this polymorphism and platelet count in patients group.

Vaspin is a novel adipocytokine. Various studies have shown that vaspin is associated with many types of cancer. This study aims to determine the association of vaspin rs2236242 gene polymorphism with vaspin level in women with papillary thyroid cancer (PTC) and Multinodular goiter (MNG).

In this case-control study participants were 134 women. They were divided into three groups; PTC (n=49), MNG (n=30) and control (n=55). Ten milliliter peripheral blood samples were taken from participants, 5 ml was used for DNA extraction and 5 ml for   preparation of serum. The vaspin level was measured by Sandwich ELISA kit. The genotype determination of vaspin rs2236242 polymorphism was done using the tetra primer-amplification refractory mutation system/polymerase chain reaction method.

There were no significant difference in serum vaspin level among the three groups. There was no significant association between genotypes of vaspin rs2236242 polymorphism and serum vaspin level in any groups. Logistic regression analysis showed that the difference in the frequency of the genotypes of rs2236242 polymorphism in the MNG group was significant compared to the control group. The TA genotype showed a protective effect against PTC and MNG (P<0.05). 

There is no significant difference in vaspin level between PTC, MNG and control groups. There is no association between rs2236242 gene polymorphism and serum vaspin level. The TA genotype of rs2236242 has a protective effect against MNG.

Lymphoma is the seventh most common malignancy worldwide, which is divided into types of neoplasms, of which three types, Hodgkin's lymphoma (HL), Non-Hodgkin's lymphoma (NHL), and Burkitt's lymphoma are the most common. miRNAs are regulators of gene expression that are involved in physiological processes and are involved in cancer. In the present study, the polymorphisms of pre-miR-3131 rs57408770 and Pri-miR-34b/c rs4938723 genes in patients with Non-Hodgkin's lymphoma were compared with healthy controls.

In this case-control study, 359 specimens were studied, of which 173 were (NHL) patients and 186 were healthy controls. Patients were selected from the patients referred to the cancer clinic of Ali Ibn Abi Talib Hospital. The DNA genome was extracted from the peripheral blood sample by the salting out method. The variants of Pri-mir-34b/c rs4938723 and pre-miR-3131 rs57408770 genotypes were analyzed by PCR-RFLP method.

The results showed that Pri-miR-34b/c rs4938723 homozygous polymorphism increased the risk of (NHL) in codominant and Recessive models. (OR= 2.70, 95% CI =1.13-4.43, P=0.025, OR=2.91, CI 95% =1.17-7.42, P=0.018 respectively). Pre-miR-3131 rs57408770 polymorphism increased the risk of (NHL) in homozygous states in codominant and recessive models. (OR=2.26, 95% CI=1.21-4.25, P=0.006, respectively).

The results showed a significant relationship between pre-miR-3131 rs57408770 polymorphism, Pri-miR-34b / c rs4938723, and (NHL) disease in the Iranian population.

Autism Spectrum Disorders (ASD) is a developmental disease of the nervous system that affects an average of 1 in 150 children worldwide. Both genetic and environmental factors play a role in the development of this range of disorders. Several studies have shown an association between vitamin D receptor (VDR) gene polymorphisms and behavioral disorders associated with nervous system, including autism. In the present study, we aimed to investigate the association between VDR gene polymorphisms rs731236 (Taq1), rs1544410 (BsmI), rs2228570 (FokI) and the risk of autism. However, due to polymorphism diversities in population, we investigated the association between VDR rs731236 (Taq1)), rs1544410 (BsmI) (rs2228570 (FokI)) gene polymorphisms and the risk of autism in the population of East Azerbaijan.

In the present case control study, a total of 50 patients with ASD and 50 healthy control children were studied following the polymerase chain reaction on DNA extracted from peripheral blood and then enzymatic digestion with RFLP technique in terms of genotypic and allelic distribution studies using SPSS 16.

The results of statistical analysis of genotypic and allelic distribution for FokI and BMSI types of VDR gene did not show a significant difference between patients with autism and control group (p˃0.05). But Allelic and genotypic distribution of TT (p<0.045) and tt (p<0.013) genotypes between case and control groups showed a significant difference.

The results provide early evidence that genetic alterations in the VDR (TaqI) gene may alter children's susceptibility to ASD.

 People who take statins respond differently to them due to genetic differences. One of the most significant enzymes involved in drug metabolism is cytochrome P450 2D6 (CYP2D6) enzyme, coded by the CYP2D6 gene. Individuals who carry two non-functional alleles in this gene are considered as poor metabolizers. Recognizing poor metabolizers may help prevent adverse effects of drugs. 

 This study aims to assess the association of CYP2D6*4, as the most frequent non-functional allele of CYP2D6 gene, and response to atorvastatin in patients with high low-density lipoprotein (LDL) level in northern Iran.

 A total of 180 patients with high LDL level underwent treatment with atorvastatin for 8 weeks to assess their response. They were assessed in terms of CYP2D6*4 polymorphism using the amplification-refractory mutation system/polymerase chain reaction method and the results were validated by the sanger sequencing method. At the end, the association between CYP2D6*4 allele and response to atorvastatin was assessed. 

 In patients, the percentage of the CYP2D6*4 variant was 7%. This allele was not observed in homozygous patients. There was no significant association between CYP2D6*4 polymorphism and response to atorvastatin, which might be due to low frequency of CYP2D6*4 in patients. The observed allelic frequency was close to the frequency reported in previous studies for healthy Iranian people.

 It seems that CYP2D6*4 polymorphism is not the cause of poor metabolism in poor metabolizers in northern Iran. Therefore, to diagnose poor metabolizers in this region, further studies on other genes are recommended.

Patients with β-thalassemia major are dependent on regular blood transfusion. Iron overload is the main complication of transfusion which damages vital organs. Hepcidin, a peptide hormone, is the key element of body iron hemostasis. Single nucleotide polymorphisms (SNPs) within the hepcidin gene alter its function and thereby iron status. The aim of this study was to determine the association of three SNPs of rs10421768, rs8101606 and rs66868858 with iron overload in thalassemia patients.

In  this cross-sectional study, one hundred thalassemia patients were recruited. Patient clinical and laboratory data including serum ferritin, liver and heart iron deposition were collected from their files. SNPs genotypes were determined by high resolution melt curve analysis. Association between genotypes and iron overload markers was estimated by chi-square test considering p < 0.05 as statistically significant.

Based on serum ferritin > 1000 ng/mL, 72% of patients were iron overloaded and 33% and 63% had abnormal heart and liver iron, respectively. Statistical analysis revealed no relation between SNPs genotype and iron overload.

Although we could not find any signification relation, it is probable that the effect of these polymorphisms on iron overload applied through a specific haplotype consisting of several SNPs.

 Breast cancer is the most common malignancy in women worldwide. It is also the second leading cause of cancer death among women after lung cancer. Considering the relationship among plasma folate levels, the level of uracil, and DNA damage in cell division, methyl tetrahydrofolate reductase (MTHFR) is a suitable candidate for studies on the susceptibility to cancer, including breast cancer. This study aimed to investigate the relationship between two polymorphisms in the MTHFR gene and the risk of breast cancer among women in Markazi Province, Iran.

 This case-control study investigated the rs1801131 and rs1801133 polymorphisms of the MTHFR gene and breast cancer risk in a large population including 80 patients and 80 healthy women in Markazi Province, Iran, using the PCR-RFLP technique. The specimens were genotyped by agarose gel electrophoresis. Finally, the data were analyzed in SPSS software (version 26).

 There was a statistically significant difference between the two groups of patients and controls regarding three genotypes of the rs1801133 locus (P=0.006). Moreover, the CT genotype (P=0.001, OR=2.471, 95% CI=1.229-4.965) and total TT and CC genotypes (P=0.000, OR=3.375, 95% CI=1.716-6.637) were significantly associated with the risk of breast cancer. However, the TT genotype (P=0.538) showed a protective role against breast cancer. In contrast, there was no statistically significant difference between the two groups of patients and controls in terms of three genotypes of the rs1801131 locus (P=0.149), which is consistent with the results of some studies.

 The rs1801133 polymorphism of the MTHFR gene can be used as a marker in clinical prognostic studies related to the risk of breast cancer.

Acute myeloid leukemia (AML) is a form of cancer characterized by the presence of cells with abnormal differentiation into blood, bone marrow and other body tissues. In AML, blood cells accumulate in the bone marrow, over-producing of oxygen, which can lead to oxidative stress. The aim of this study was to investigate the association of A251G and 50bp del polymorphisms in SOD1 gene with the risk of AML.

Methods and Materials:

 In this case-control study, 200 patients with AML cancer were selected as the patient group and 200 healthy individuals as the control group. The genotypes of A251G single nucleotide polymorphism of SOD1 gene were determined by PCR-RFLP method and Ins / Del 50bp polymorphism of SOD1 gene was determined by conventional PCR method.

The results showed that there was a significant difference between A251G polymorphism AG + GG genotypes (P <0.001) and Ins / Del 50bp polymorphism ID + DD (P = 0. 04) between the control and patient groups.

In conclusion, it was found that both selected polymorphisms are associated with a reduced risk of AML.

Polycystic ovary syndrome (PCOS) is a multifactorial disorder that affects women of reproductive age. This condition is diagnosed in women with hyperandrogenism, oligomenorrhea, amenorrhea, acne, hirsutism, insulin resistance, obesity, and infertility. More than 40% of female infertility is related to PCOS. Although the main cause of this disease has not yet been fully and accurately identified, according to the common features that can be seen among PCOS patients, this syndrome can be considered a set of tissue, hormonal, and genetic abnormalities that change the expression of genes, miRNAs, factors Heredity and environment play an important role in its formation. So far, more than 100 genes related to PCOS have been identified during genetic studies. Genes that are considered the main candidate for causing this disease. Also, various genetic polymorphisms have been described for PCOS, and the association of single nucleotide polymorphisms (SNP) with the occurrence and progression of PCOS has been confirmed. SNPs are single nucleotide changes (plays) in the length of the DNA of different individuals of the same species, which are seen in more than one percent of the population. SNPs are the most important type of polymorphism and can be seen anywhere in the genome; in the coding region of structural and functional genes, regulatory regions, and even in non-coding parts of DNA. With extensive investigations on the influencing genes and their polymorphisms, it has been determined that these polymorphisms play a role in PCOS. Emphasizing that polycystic ovary syndrome is a multifactorial disease, so studies on predisposing polymorphisms can give a clear view of the disease. One of the genetic loci related to PCOS is located on chromosome 11q22.1 near the YAP1 gene (Rs1894116). The association between PCOS and single nucleotide variants in the YAP1 gene has been published in several GWAS in different populations. The YAP1 protein plays a key role in the Salvador–Warts–Hippo (Hippo-Yap) signaling network that controls cellular and organismal metabolism. Does dysregulation of this pathway contribute to the pathogenesis of metabolic diseases such as type 2 diabetes, fatty liver disease, and cardiovascular disease, all of which are potential long-term consequences of PCOS. Another related disease is endometrial cancer, which is closely related to insulin resistance (one of the symptoms of PCOS). YAP1 protein is also required for the proliferation of ovarian granulosa cells. The insulin receptor or INSR, encoded by the insulin receptor gene on chromosome 19p13.3, is essential for the insulin signaling pathway. The occurrence of any polymorphism in the INSR gene can lead to a change in the function of the insulin receptor and eventually cause PCOS. Also, creating a mutation in the INSR gene can cause hyperandrogenism, hyperinsulinemia, and insulin resistance. Various recent studies in different populations show that despite the ethnic and racial diversity among the population, a strong relationship has been found between the diversity of the INSR gene and PCOS. In addition, INSR can be considered a good genetic marker for PCOS. (Rs2252673 is considered in this study). Another SNP associated with PCOS is located on chromosome 12q14.3 near the HMGA2 gene (Rs2272046). The HMGA2 gene is strongly expressed during embryonic development and in various cancers, which means that it may play a role in controlling cell proliferation. A GWAS has identified an association between IMP2 genetic variants and the risk of type 2 diabetes. Studies show that HMGA2 is related to proliferation and reproduction, making it a plausible PCOS candidate gene. So far, no study has been reported on the relationship between rs1894116, rs2272046, and rs2252673 single nucleotide changes in Yap1, HMGA2, and INSR genes in PCOS patients in Iran. This study examines the relationship between these polymorphisms in PCOS patients in Iran. Yap1, HMGA2, and INSR genes are among the most important candidate genes for polycystic ovary syndrome. This study investigated the association between three SNPs (rs1894116, rs2272046, and rs2252673) in these three genes in women with polycystic ovary syndrome.

This study was conducted on 100 women with PCOS and 100 healthy women who met the inclusion criteria and were diagnosed by a gynecologist. LH, FSH, LH to FSH ratio, AMH, estradiol, prolactin, fasting blood sugar, and testosterone were measured. Tetra ARMS-PCR method was used to investigate the relationship between genotypes of rs1894116, rs2272046, and rs2252673 polymorphisms in Yap1, HMGA2, and INSR genes. Statistical analysis was done by SPSS.

Hormones and changes in their levels are very important in polycystic ovary syndrome. In examining the number of hormones in our study, as expected, it was found that the difference in the amount of LH, FSH, the ratio of LH to FSH, AMH, estradiol, prolactin, fasting blood sugar, and testosterone in PCOS subjects was significantly increased compared to healthy subjects. In other studies, similar to our results, the hormones FSH, AMH, LH and LH/FSH, testosterone, estradiol and BMI in the PCOS group increased significantly compared to healthy people. In this study, among the three SNPs investigated, rs2272046 in the HMGA2 gene and rs1894116 in YAP1 were associated with PCOS. In rs2252673 INSR, people with a dominant genotype had a direct and significant relationship with PCOS, and the C allele in a dominant state (CC genotype) has a protective role against PCOS with a chance of 0.722. In contrast to the present study, the results of a 2014 review showed that there was a significant association between rs2252673 and PCOS. In this study, the G allele was over transmitted. This means that rs2252673 is a risk marker for PCOS. Also, the results showed that carriers of the G allele show an increase in the prevalence of PCOS, which contradicts the current finding. Also, two other studies in Turkey and India showed that SNPs rs545885277 of the INSR gene on chromosome 19 did not show a significant relationship with PCOS pathogenesis. In examining the relative risk of rs2272046 in the HMGA2 gene in patients with PCOS, it was determined by logistic regression test that there was no significant difference between the genotypic frequency of healthy and diseased individuals in homozygous, recessive, dominant, and super dominant models. The average value of body mass index and the amount of hormones in sick people increased significantly compared to healthy people. People with the dominant genotype of the rs2252673 polymorphism in the INSR gene and those with the dominant and recessive genotype of the rs1894116 polymorphism in the Yap1 gene had a direct and significant relationship with PCOS. Also, none of the rs2272046 genotypes in the HMGA2 gene had any relationship with PCOS.

The present findings provide evidence that two polymorphisms, rs2252673 in the INSR gene and rs1894116 in the Yap1 gene, are involved in the risk of PCOS.