جستجوی مقالات مرتبط با کلیدواژه « xrcc1 » در نشریات گروه « پزشکی »

Genomic polymorphisms of DNA repair enzymes/excision repair cross complementation group 1 (ERCC1), excision repair cross complementation group 2 (ERCC2), and X-ray repair cross complementation group 1 (XRCC1) correlate with survival and therapeutic responses in colorectal cancer (CRC) patients. Therefore, the present study examined the frequency of ERCC1 C118T, ERCC2 Lys751Gln, and XRCC1 Arg399Gln polymorphisms and their prognostic and predictive values in CRC patients. In this retrospective study, a total of 143 CRC patients were evaluated for these polymorphisms by PCR-RFLP. The majority of the patients showed heterozygous C/T (56%) compared to wild type C/C (29%) and variant T/T (15%) genotypes for ERCC1 C118T polymorphism. ERCC2 Lys751Gln polymorphism showed wild type A/A (44%), heterozygous A/C (40%), and variant C/C genotypes (16%). The frequency of XRCC1 Arg399Gln polymorphism was 48% (wild type G/G), 42% (heterozygous G/A), and 10% (variant A/A). The relapse-free survival (RFS) significantly decreased in patients with ERCC1 118 C/C wild type genotype in the subgroups of patients with advanced stage and colon cancer; however, variant T/T genotype correlated with reduced overall survival (OS) in patients treated with combined drug 5-FU/Oxaliplatin. Taken together, in CRC patients and patients treated with 5-FU/Oxaliplatin, ERCC2 Lys751Gln A/A wild type genotype led to significantly unfavorable clinical outcomes. However, XRCC1 Arg399Gln polymorphism did not show any significant association with prognosis. Additionally, on analyzing combined effect of ERCC1 and ERCC2 polymorphisms, a significant reduced OS in patients with both unfavorable genotypes (ERCC1: C/C and ERCC2: A/A) was found. Furthermore, in the subgroup of patients treated with 5-FU/Oxaliplatin, RFS and OS significantly decreased in patients with both unfavorable genotypes (ERCC1: T/T and ERCC2: A/A). The significant relationship of ERCC1 C118T and ERCC2 Lys751Gln polymorphisms with prognosis and treatment response reflects the vital role of these molecules as prognostic and predictive markers in patients with CRC. Additionally, the combined evaluation of ERCC1 and ERCC2 polymorphisms might identify high risk CRC patients with poor prognosis.

Several environmental and genetic factors have contributed to the development of colorectal cancer (CRC). We aimed to investigate the independent and combined effects of some selected risk factors and Arg399Gln XRCC1 polymorphism on CRC.

A total of 180 patients with CRC and 160 healthy individuals who were matched for sex, age, and place of residence (Northeast of Iran) participated in this case-control study. Before collecting blood samples and filling out questionnaires, a written consent form was obtained from all participants. Genotypes were determined by RFLP-PCR. The comparison of genotype and allele frequencies was performed using p value based on the results of chi-square test. The odds ratios (OR) and 95% confidence intervals (CI) were calculated by employing a logistic regression model. All statistical calculations were performed using SPSS. Each of the 2-sided p values less than 0.05 were considered statistically significant.

The level of literacy, physical activity, consumption of vegetables and fruits, and tea intake of the patients were significantly lower than healthy individuals, but gastrointestinal disorders, family history of cancer, BMI, and fast food consumption were significantly higher in cases than in controls. No significant difference was observed between the 2 groups regarding smoking, opioid addiction, alcohol consumption, diet, fish consumption, and liquid intake, using the kitchen hood, diabetes, and cardiovascular disease. Arg/Gln + Gln/Gln and Arg/Gln genotypes were involved in increased CRC risk (The crude OR =1.781 with a 95% CI of 1.156-2.744 and OR = 1.690 with a 95% CI of 0.787-3.630). Also, Gln/Gln genotype was more frequent in CRC group than in control group. However, none of the risk factors interacted with polymorphism, and thus did not have an effect on CRC.

Some risk factors, such as reducing the consumption of vegetables and fruits or reducing physical activity as well as polymorphism of the XRCC1 Arg399Gln alone, increase the risk of CRC, but they do not interact with each other.

X-ray repair cross-complementing group 1 (XRCC1) plays a role in repairing DNA damage during spermatogenesis. We examined the effects the possible role of two single nucleotide polymorphisms of XRCC1 Arg194Trp and Arg399Gln in DNA repair gene XRCC1 with risk of idiopathic non-obstructive azoospermia (INOA) in a south-east Turkey population.

The genotype and allele frequencies of two observed polymorphisms of XRCC1 Arg194Trp and Arg399Gln were examined by polymerase chain reaction-restriction fragment length polymorphism in 102 infertile men with INOA and 102 fertile controls.

In our study, all the observed genotype frequencies were in agreement with Hardy-Weinberg equilibrium. The genotype frequencies of the XRCC Arg194Trp were 84% (CC), 16% (CT) and 2% (TT) among the men with INOA, while the frequencies of those genotypes in the controls were found to be 88% (CC), 12% (CT) and 2% (TT) (P < .05). Similarly, the genotypes frequencies of GG, GA, and AA of the XRCC1 Arg399Gln were 44%, 39%, and 19% in the group of men with INOA, whereas these frequencies were 42%, 45%, and 15% in the control group, respectively. No significant difference between the control group and the men with INOA were found in the frequencies of genotypes and allele of XRCC1 Arg194Trp and Arg399Gln (P > 0.05).

Neither Arg194Trp nor Arg399Gln polymorphisms in the XRCC1 gene influenced risk of INOA in our study. However, these findings may be helpful in improving the understanding of the etiology of male infertility.

Recently, findings have validated the significant role of DNA damage genes related to the pathogenesis of breast cancer (BC). The aim of the present investigation was to evaluate possibility roles of two common XRCC1 (rs25487; A > G) and ERCC1 (rs3212964; A > G) gene polymorphisms with the risk of sporadic BC.
In a case-control study, consisting of 100 females identified with sporadic BC and 100 malignancy-free females as the control group. We used Tetra-ARMS Polymerase Chain Reaction (PCR) and PCR-Restriction Fragment Length Polymorphism (RFLP) methods to determine genotype frequencies of XRCC1 and ERCC1 genes.
The findings did not reveal a statistically significant difference in the genotype frequencies of XRCC1 and ERCC1 genes between the two groups (P > 0.05). The frequency of G mutant allele for XRCC1 and ERCC genes was higher in cases compared to controls, while the difference between the groups was not statistically significant (P = 0.202; OR: 1.312; CI: 0864 - 1.994), (P = 0.352; OR: 1.213; CI: 0.808 - 1.820).
The current results provide evidence against the hypothesis that XRCC1 (rs25487) and ERCC1 (rs3212964) gene polymorphisms may be associated with a predisposition to sporadic BC.

The thyroid cancer (TC) is one of endocrine malignancies which contributes to more than 50% of all deaths from endocrine cancers. Gene polymorphisms including DNA repair genes such as XRCC1 (X-ray repair cross-complementing group 1) gene are thought to modify DNA repair capacity and relate to cancer risk.
The aim of the study was to detect the association between XRCC1 polymorphisms and increased risk of thyroid carcinoma among Iranian-Azeri patients.
This case-control study was performed on 114 differentiated thyroid carcinoma patients and 91 normal control subjects. Single nucleotide polymorphisms (SNPs) of 194 C > T and 399 G > A of XRCC1 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
In the present study, polymorphism at codon 194 of the XRCC1 gene was not found in case and control groups (P = NC (not calculated). All of the case and control subjects were 194C/C. Unlike 399 G > A genotype (P Based on these results, the XRCC1 399 G > A genotype could be used as a useful molecular biomarker to predict genetic susceptibility for differentiated thyroid carcinoma in Iranian-Azeri patients.

To protect genomes of all organisms from internal and external damages and maintain the genome integrity and the continuity of life, repair system has been developed in all living cells. Defects in repair system are responsible for various kinds of disease including cancers and neurodegenerative diseases such as Multiple sclerosis (MS). The relationship between various components of the repair system and MS has been confirmed by investigations on separate cohorts in independent research. The main aim of this study was to discover the genetic association of two functional polymorphisms of rs1799782 in XRCC1 and rs2303425 in MSH2 genes as the key players in DNA repair system; with MS.
The genotypes of 105 MS patients and 102 age and sex matched healthy controls for these polymorphisms were determined by a PCR-RFLP technique.
Genotype and allele frequencies of rs1799782 in patients with MS compared to the control group demonstrated a significant difference and a possible role for this polymorphism in MS pathogenesis (P value (0.02) and OR (3.4)). The rs2303425 polymorphism showed no significant correlation (P value = 0.41 and OR=1.5) with the risk of MS in Iranian population.
Our results suggest a possible role for repair system genes and their significance in the pathogenesis of multiple sclerosis.

Context: Known polymorphisms of DNA repair genes can be associated with the risk of many types of cancer. There is no consensus regarding association between XRCC1 and OGG1 with breast cancer (BC).
The aim of this study is to collect relevant published studies systematically.
Data Sources: Sixty-two publications were identified through searching PubMed, PubMed Central, ISI web of knowledge, and reference list of related articles.
Study Selection: We performed a systematic review according MOOSE guideline criteria. All longitudinal cohort and case-control studies investigating association of any type and grade of breast cancer with XRCC1 and OGG1 gene and their polymorphisms were eligible for initial inclusion.
Data Extraction: Two authors screened titles and abstracts and extracted all needed information from eligible studies. Four research methodological components causing bias for the association between gene polymorphisms and breast cancer risk, including source of controls sampling, population ethnicity, sample size of studies and menopausal status of cases and controls was used for assessment of quality of studies
A total of 14,793 breast cancer cases and 15,409 controls were included in assessment of XRCC1 Arg194Trp. Four studies showed significant association and one study showed protective effect of XRCC1 Arg194Trp and BC. A total of 7,716 cases and 7,370 controls were included for XRCC1 Arg280His. Only one study showed significant association of XRCC1 Arg280His and breast cancer (OR = 1.82 (1.06 - 3.15). A total of 27,167 cases and 31,998 controls were included to estimate association between XRCC1 Arg399Gln polymorphism and breast cancer. Seven studies showed significant association and one showed protective effect of XRCC1 Arg399Gln and BC. A total of 9,417 cases and 11,087 controls were included for OGG1 Ser326Cys. Among studies focused on OGG1 Ser326Cys, none showed significant association with breast cancer.
Systematic search of major databases identify many studies addressing the relationship between BC and susceptible alleles in the base excision repair genes and the fact that there are many variations in the magnitude of association depending on inheritance model and the population of the study.