جستجوی مقالات مرتبط با کلیدواژه "hla-g" در نشریات گروه "پزشکی"

Type 1 diabetes mellitus (T1DM) is an autoimmune condition characterized by the destruction of pancreatic β-cells. While environmental factors and autoantibodies play a role, genetic predisposition, particularly involving HLA class II alleles (DR and DQ), is significant. This study aimed to evaluate the frequency of DRB1 and DQB1 genotypes associated with T1D, with a focus on gender differences.

A total of 187 Sudanese subjects, aged 5 to 18 years, were enrolled, including 87 T1D cases and 100 non-diabetic controls. The study was conducted in diabetes hospitals in Khartoum State. HLA gene polymorphisms were assessed using the allele-specific refractory mutation system-polymerase chain reaction (ARMS-PCR) method.

Genotype frequencies for C/C, G/G, and G/C were 11.8%, 66.7%, and 21.6% in females, and 10.2%, 67.3%, and 22.4% in males, respectively. Statistical analysis showed no significant gender-related differences in genotype distributions (Chi-square,
p = 0.968).

The study found no significant association between genotype distributions and gender in Sudanese children with T1D. This suggests that gender does not significantly influence the distribution of DRB1 and DQB1 genotypes related to T1D in the study population.

The celiac disease (CD) diagnosis sometimes is challenging and diagnostic process cannot always follow a simple algorithm but it requires a close collaboration between histo-pathologists, clinicians, laboratory and genetic experts. The genetic predisposition for CD is related to HLA-DQ2 and/or DQ8 but other HLA haplotypes and non-HLA genes may be involved in genetic predisposition. In particular DQ7 may represent an additive and independent CD risk associated haplotype. We describe an unusual case of a female 42 year old with a previous diagnosis of Hodgkin lymphoma, who has a clinical presentation suggestive for CD with negativity for antitransglutaminase and anti-endomysium antibodies and HLA-DQ7 positivity

Retinopathy of diabetes is a chronic diabetes mellitus complication affecting retinal vessels, and some ocular complications’ molecular mechanisms remain obscure. To evaluate the expression of HLA-G1, HLA-G5, miRNA-181a, and miRNA-34a in the lens epithelial cells of patients with retinopathy of diabetes. In a case-control study, 30 diabetic patients with retinopathy, 30 diabetic patients without retinopathy, and 30 cataract patients without diabetes mellitus as the control group were enrolled after a full description with details about the study methods and objectives. The expression of HLA G1, HLA G5, miRNA-181a, and miRNA-34a in lens epithelial cells was assessed by quantitative RT PCR. Moreover, the levels of HLA-G protein in aqueous humor were evaluated by the ELISA method. HLA-G1 expression was significantly upregulated in the retinopathy group (P=0.003). The aqueous humor of diabetic retinopathy patients contained significantly higher levels of HLA-G protein compared with the non-diabetic patients (P=0.001). miRNA-181a was significantly downregulated in the diabetic retinopathy group compared with the patients without diabetes (P=0.001). In addition, miRNA-34a was upregulated in the retinopathy group (P=0.009). Taken together, the present results showed that HLA-G1 and miRNA-34a can be valuable markers for diabetic retinopathy. Our data offers new perspectives for improving the control of inflammation in the lens epithelial cells by considering HLA-G and miRNA.

Human leukocyte antigen (HLA) molecules play a substantial role in T Lymphocyte-mediated adaptive immune response. Down-regulation of HLA expression may help the tumor to escape from immune surveillance. This study aimed to evaluate the correlation between HLA-G and HLA-E tissue distribution and the degree of tumor malignancy in human breast tumors.

This cross-sectional study was conducted
on tissue samples of 145 patients with breast cancer. The distribution of HLA-G and HLA-E expressions were measured by the immunohistochemistry method.

Among 145 patients, 51% of tumors did not express HLA-E, and +1 positive was seen in 36.6 % of patients. +2 positive in 8.3% and +3 positive in 4.1% of patients. Moreover, 79.3% of tumors did not express HLA-G, 17.9% expressed +1 positive, 2.8% expressed +2 positive, and no patients expressed +3 positive. Generally, 20.7% and 49% of patients showed expression of HLA-G and HLA-E, respectively. A significant correlation was seen between the grade of disease and expression of HLA-E (p = 0.03) and HLA-G (p = 0.001). Moreover, a significant correlation was seen between the simultaneous expression of HLA-G and HLA-E with grade (p = 0.03, r = 0.176).

Significant correlation was seen between the distribution of HLA-G and HLA-E expression with a degree of malignancy. Therefore, these biomarkers’ expression may contribute to the prognosis and progression of breast cancer.

Since HLA-B*15:02 is a biomarker for carbamazepine-induced Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in certain Asian populations, the United States food and drug administration (USFDA) recommends HLA-B*15:02 screening before carbamazepine administration in Asian and other communities. Several published reports across the globe suggested a strong association of HLA-B*15 with carbamazepine-induced hypersensitivity reactions.

This study was conducted to estimate the prevalence and the genetic polymorphism of HLA-B*15 in the North Indian population (N=5469) by PCR  sequence-specific oligonucleotide probe (SSOP) genotyping of the HLA-B locus.

The total allelic variants of HLA-B*15 identified amongst the studied samples were 17. The most frequent among these was HLA-B*15:17 (2.030%). Subsequently, HLA -B* 15:01 (1.463%) and B*15:02 (1.225%) were more frequent. Further, 185 HLA-B*15 genotypes were seen among the studied population with which the most frequent were HLA-B*15:17-40:06(0.402%), HLA-B*15:17-35:03 (0.366%) and HLA-B*15:02-40:06 (0.347%).

This information highlights the prevalence and diversity of HLA-B*15 genotyping and its importance in the screening of carbamazepine-induced SJS/TEN in the North Indian population where the prevalence of HLA-B*15 allelic variants was on the higher side. Further, this baseline information could be further explored in the understanding of the pathogenesis of the disease and may contribute valuable information for designing effective vaccines and clinical trials.     

Celiac disease is the permanent intolerance to dietary gluten, the major protein component of wheat. The role of human leukocyte antigen (HLA) DQ2 heterodimer (DQA1*0501-DQB1*0201) in presenting gluten peptides to effectors T cells in celiac disease (CD) has been well documented. Epidemiological studies of the disease in Iran are not available. This study was aimed to investigate the frequency of HLADQ2 and HLADQ8 in children with celiac disease in Mashhad city.
This case-control study was conducted on 25 celiac patients and 25 matched healthy controls for HLA typing of DQ2/DQ8. CD diagnosis was reached in 25 subjects, according to the revised criteria of the European Society for Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition criteria (NASPGHAN). Sensitivity, specificity, and negative and positive predictive values were calculated.
Mean age was 134.06±30.48 months in case and control groups, with no statistical difference between the two groups. 48% of cases and controls were male, and 52 % were female. HLA-DQ2/8 was positive with 80% (CI 95%:64-95), sensitivity was 80% (CI 95%:58-92), specificity 48% (CI 95%:28-68), NPV 70.58% (CI 95%:44-88), PPV 61(CI 95%:42.2-76.5) and accuracy was 64%.
A positive association was found between HLA DQ2/8 and Iranian celiac disease. As negative and predictive values were high, HLA typing may be considered a beneficial test for diagnosis confirmation.

Psoriasis is a chronic inflammation of the skin caused by the proliferation of inappropriately differentiated horn cells, resulting in plaque psoriasis formation. It is not often fatal, and it may lead to physical disabilities and severe mental stress in which professional and social activities could be highly affected. It is generally accepted that the human leukocyte antigen (HLA)-CW06 allele has a significant role in the onset of this disease.

This study determines the association between the HLA-CW06 allele and psoriasis. The present case-control study was conducted to evaluate the relation between HLA-CW06 and psoriasis in a population in Iran. This study was performed on 30 samples of patients with psoriasis.

The results of polymerase chain reaction- sequence-specific primers for the detection of HLA-CW06 showed positive amplification in 7 out of 30 psoriasis patients as compared to 4 among 30 controls.

This study showed that due to different allele frequencies associated with psoriasis in different parts of the world, it seems that other genetic and epigenetic factors may be involved in this disease.

Multiple sclerosis is a partially heritable autoimmune disease. HLA-DR2 is the largest identified genetic risk factor for MS. The largest identified genetic risk factor is haplotype from the MHC class II HLA-DR2 which increases risk of disease. The HLA-DR2 distribution in MS patients has been confirmed but contradictory outcomes have been found although its effect on ethnicity and gender is unclear. Since, there are no data regard to the association of HLA-DR2 (HLA-DRB1*1501-DRB5*01-DQB1*0602) with MS in Khuzestan, and because of ethnic diversity, investigating the association of HLA-DR2 with MS disability in both sex and ethnicity, was the aim of this study.

A total of 399 individuals were recruited in the study. HLA typing was conducted using the polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) technology. Moreover, HLA-DR2 association with MS was analyzed. Also, probable association with gender, ethnicity, EDSS, MS clinical course was examined by chi square test.

HLA-DRB5*01--DQB1*0602- as the most common HLA haplotype was found in both patient and control groups. In contrast, DRB5*01+-DRB1*1501+-DQB1*0602- frequency was very low. It was observed that no haplotype has association with MS susceptibility. Interestingly, none of the haplotypes showed association with ethnicity, sex, EDSS and MS course except for HLA-DRB5*01+-DRB1*1501+-DQB1*0602- haplotype that was positively associated with EDSS steps 5 to 10 (p=0.014) and non-RRMS (p = 0.023).

There was no association between HLA-DR2 and MS susceptibility. However, the higher HLA-DRB5*01+-DRB1*1501+-DQB1*0602- frequency may play a role in MS development. Also, HLA-DR2 did not increase significantly concerning clinical course, ethnicity, sex, and EDSS. This study further supports the importance of replication studies as susceptible loci that might differ in various ethnicities. Therefore, it is concluded that the association between HLA-DR2 and MS is more allelic than haplotypic in Khuzestan

Given the potential link between genetic risk factors and clinical features of systemic lupus erythematosus (SLE), this study aimed to explore the relationship between human leukocyte antigen (HLA)-DRB1/DQB1 alleles and haplotypes and clinical sub-phenotypes of the disease in a group of Iranian SLE patients. HLA-DRB1 and HLA-DQB1 alleles were determined by PCR-SSP in 127 SLE patients and 153 ethnically-matched healthy controls. The relationships between various clinical manifestations and HLA alleles/haplotypes were analyzed in the patients. We observed the positive associations of DRB1*07 and DRB1*07-DQB1*02 haplotypes with articular and pulmonary involvement (p=0.006 and p<0.001 respectively), DRB1*03 andDQB1*02 alleles, and DRB1*03-DQB1*02 haplotypes with cutaneous (p=0.03, p=0.004 and p=0.02 respectively) and renal involvement, and DRB1*13 as well as DRB1*13-DQB1*06haplotypes with renal involvement. Conversely, negative associations of DRB1*13 with cutaneous and gastrointestinal disorders (p=0.004 and p=0.02 respectively) and DRB1*01 with renal involvement (p=0.03) were found in our patients. Patients carrying susceptible HLA-DRB1alleles had a higher risk for expression of cutaneous involvement (p=0.03), anti-coagulant antibody development (p=0.01), and a lower risk for pulmonary disorders compared to patients' negatives for susceptible alleles (p=0.04). Our findings on associations between HLA risk allele (DRB1*03) as well as non-risk alleles with particular clinical manifestations and between the potentially protective allele (DRB1*01) and protection against renal involvement indicate the important role of HLAclass II genes in predisposing of specific serological and clinical features of SLE disease which could be implicative for therapeutic applications and better management of SLE patients.

We evaluated the frequency of human leukocyte antigen (HLA) DQ2/DQ8 haplotypes as well as celiac disease (CD) among the first-degree relatives (FDRs) of CD patients, compared with healthy controls, and compared the HLA typing with serologic tests in this population.

Until now, no study has examined the frequency of HLA-DQ2/DQ8 haplotypes among the FDRs of Iranian patients with CD.

In the current case-control study, 100 FDRs of CD patients and 151 healthy controls were included. Demographic characteristics were assessed using a research-made questionnaire. A blood sample was collected from each participant for HLA-DQ typing and measuring serum levels of anti-gliadin and anti-transglutaminase (anti-tTG) antibodies.

The mean age of the FDRs of CD patients and controls was 30 and 35 years, respectively. Also, 51% (n=51) of the FDRs and 51.7% (n=78) of controls were female. CD was diagnosed among 3% (n=3) of the FDRs of CD patients. No significant difference was found in terms of the frequency of HLA-DQ alleles between the FDRs of CD patients and controls. Out of 100 FDRs of CD patients, 40% had HLA-DQ2 allele, 16% carried HLA-DQ8 allele, and 4% had both alleles. Surprisingly, the CD was diagnosed in three subjects among 60 FDRs of CD patients with HLA-DQ2 allele (3% of the whole population). This diagnosis was based on the results of serological tests as well as endoscopy and intestinal biopsy.

CD was confirmed among 3% (n=3) of the FDRs of CD patients. We found that HLA typing is not effective in predicting CD among FDRs of CD patients. Other methods such as serological tests have a higher priority compared with HLA-DQ typing.

We evaluated the frequency of human leukocyte antigen (HLA) DQ2/DQ8 haplotypes as well as celiac disease (CD) among the first-degree relatives (FDRs) of CD patients, compared with healthy controls, and compared the HLA typing with serologic tests in this population.

Until now, no study has examined the frequency of HLA-DQ2/DQ8 haplotypes among the FDRs of Iranian patients with CD.

In the current case-control study, 100 FDRs of CD patients and 151 healthy controls were included. Demographic characteristics were assessed using a research-made questionnaire. A blood sample was collected from each participant for HLA-DQ typing and measuring serum levels of anti-gliadin and anti-transglutaminase (anti-tTG) antibodies.

The mean age of the FDRs of CD patients and controls was 30 and 35 years, respectively. Also, 51% (n=51) of the FDRs and 51.7% (n=78) of controls were female. CD was diagnosed among 3% (n=3) of the FDRs of CD patients. No significant difference was found in terms of the frequency of HLA-DQ alleles between the FDRs of CD patients and controls. Out of 100 FDRs of CD patients, 40% had HLA-DQ2 allele, 16% carried HLA-DQ8 allele, and 4% had both alleles. Surprisingly, the CD was diagnosed in three subjects among 60 FDRs of CD patients with HLA-DQ2 allele (3% of the whole population). This diagnosis was based on the results of serological tests as well as endoscopy and intestinal biopsy.

CD was confirmed among 3% (n=3) of the FDRs of CD patients. We found that HLA typing is not effective in predicting CD among FDRs of CD patients. Other methods such as serological tests have a higher priority compared with HLA-DQ typing

Delayed graft function (DGF) and acute rejection (AR) are common complications in kidney transplant patients.

The study evaluated DGF and AR in highly sensitized patients and their effects on kidney function for six months post-transplantation.

We enrolled 95 patients with kidney transplants from living donors who were divided into two groups. Group 1 included 47 highly sensitized patients with panel reactive antibody (PRA) < 20.0% and negative donor-specific antigen, and group 2 included 48 patients with negative PRA. All patients were followed for the state of DGF, AR, and kidney function for six months.

Group 1 showed a significantly higher proportion of DGF and AR than group 2 (27.7% versus 2.1%, P < 0.001 and 14.9% versus 2.1%, P = 0.031, respectively). The rates of positive PRA in DGF and AR patients were significantly higher than those in non-DGF and non-AR patients (92.9% versus 42.0%, P < 0.001 and 87.5% versus 46.0%, P = 0.031, respectively). Transplanted kidney function was significantly worse in patients with PRA and DGF and/or AR than in patients with negative PRA and non-DGF and non-AR only in the seventh-day post-transplantation.

Kidney transplant in highly sensitized patients with positive PRA was related to the increased ratio of DGF and AR.

To determine the efficacy and safety of infliximab therapy in patients with HLA B-27-associated ocular inflammation resistant or intolerant to conventional immunomodulatory therapy.

This was a retrospective observational case series. All cases were uveitic patients with positive HLA-B27, confirmed through HLA testing, resistant or intolerant to conventional immunomodulatory therapy. The primary outcome of the study was to identify the efficacy of infliximab determined by the control of inflammation, duration of remission, and the ability to reduce conventional immunomodulatory therapy. The secondary outcome was an improvement of two or more lines of best-corrected visual acuity (BCVA) on the Snellen visual acuity chart.

Twenty-four patients (38 eyes) were included in the study. All patients were followed for 24 months. Twenty-one (87.5%) patients completed 24 months of follow-up. Sixteen (66.7%) patients had active uveitis at the beginning of therapy. One patient out of these active patients had active inflammation at the end of follow-up period. Thirteen (87.5%) out of sixteen active patients were in steroid-free remission. The mean duration of treatment to induce remission was 16.5 months (range 6–24 months). Corticosteroid was stopped in 19 (90.5%) patients by the end of the study. At the end of the study, in patients who achieved remission, 14 (58.3%) patients were in remission on infliximab therapy and 6 (25%) patients were in remission off infliximab therapy. Of the 38 eyes, 8 (21.05%) showed improvement in BCVA (three eyes had successful cataract extraction with intraocular lens implantation during infliximab therapy with no subsequent inflammation), while 26 eyes (68.4%) had stable BCVA over the 24-month study period. The side effects included allergic reaction, fatigue, cellulitis, headache, restlessness, elevation of liver enzymes, and anemia. Two patients (n = 24, 8.3%) experienced severe adverse effects and the treatment was stopped prematurely in these two patients.

Infliximab might induce and maintain the steroid-free remission in HLAB27- associated ocular inflammation in patients resistant or intolerant to conventional immunomodulatory therapy.

Multiple sclerosis (MS) is a common demyelinating neurodegenerative disorder with significant heritability. Previous studies have associated genetic variants in human leukocyte antigen (HLA) complex, IL2RA, and HMGB1 genes with the pathophysiology of MS.

In order to investigate the gene association in the Iranian population, we performed a genotyping study of 36 variants in the mentioned genes using Sanger sequencing in 102 MS patients and 113 healthy controls.

Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms including rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). Moreover, the strong linkage disequilibrium of two common haplotypes was estimated from the HLA-DRA gene.

This association study may suggest the role of these polymorphisms in the genetic susceptibility of MS in the Iranian population and would facilitate the recognition of causative variants in this disease.