بررسي ارتباط واريانت ژنتيكي rs1801275 گيرنده IL-4 در بيماران مبتلا به مالتيپل اسكلروزيس در شهر اصفهان

Investigation of genetic variation of IL-4 receptor rs1801275 in patients with multiple sclerosis in Isfahan

بيماريMS يك بيماري التهابي و مزمن سيستم اعصاب مركزي است. مطالعه حاضر واريانت ژنتيكي rs1801275 ژن گيرنده اينترلوكين 4 را در بيماران مبتلا به RRMS مورد بررسي قرار داده است. مواد و روش ها: تعداد 100 نفر بيمار RRMS و 100 نفر سالم به عنوان گروه شاهد انتخاب شدند سپس استخراج DNA انجام شد و پلي ‌مورفيسم rs1801275 گيرنده اينترلوكين 4 با روش Real Time PCR HRM مورد بررسي قرار گرفت. يافته ها: گروه شاهد 45% داراي ژنوتيپ طبيعي (AA)،40 % هتروزيگوت (AG) و 15% داراي ژنوتيپ هموزيگوت (GG) بودند و گروه بيمار 20 % داراي ژنوتيپ طبيعي (AA) ، 58 % هتروزيگوت( (AGو 22 % هموزيگوت (GG) بودند. بحث: نتايج پژوهش نشان داد كه فراواني آلل G پلي مورفيسم rs1801275 ژن گيرنده اينترلوكين 4 در گروه بيمار نسبت به گروه شاهد به صورت معنا داري افزايش پيدا كرده است ( 022/0=P-Value) . نتيجه گيري: پلي‌مورفيسم 1801275 rs ژن گيرنده اينترلوكين 4 مي تواند در افزايش احتمال ابتلا به بيماري MS در جمعيت مورد مطالعه نقش داشته باشد.

Multiple sclerosis (MS) is an autoimmune inflammatory disease that attacks myelinated axons in the central nervous system (CNS) resulting in destroying the myelin and the axon. According to high prevalence of disease in Iran, it needs to study different aspects of disease including factors influencing the pathogenesis and the other risk factors. Various type of genetic variants including polymorphisms may could highlight the relation between genetic and disease. In this study, we explored the relationship between IL-4 receptor polymorphism rs1801275 and disease risk. Material and Methods: In this study, IL-4receptor gene polymorphism was analyzed in a case-control study. All patients were selected as relapsing remitting (RR, n=100) and the control group consisted of 100 healthy (c, n= 100). High resolution melting analysis (HRMA) based on real-time PCR was performed to identify gene variation involved in disease. The results were analyzed by SPSS 20 software and also Hardy Weinberg equilibrium was tested for SNP. Also degree of heterozygosity and population analysis PIC was performed. Results: The results showed samples from control group consisted of 45% wild genotype (AA), 40% heterozygote (AG) and 15% homozygote (GG) for polymorphism rs1801275 while there was in patient group 20% wild genotype (AA), 58% heterozygote (AG) and 22% homozygote (GG). Conclusion: These results suggest that there was significant difference in allele count between control and patient groups. The allele frequency of IL-4 receptor polymorphism rs1801275was found significantly higher in patients (P-Value = 0.022). IL4R polymorphisms may have a disease-promoting role in this population