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Genomics Inform > Volume 9(3); 2011 > Article
Association of an Anti-inflammatory Cytokine Gene IL4 Polymorphism with the Risk of Type 2 Diabetes Mellitus in Korean Populations.
Min Jin Go, Haesook Min, Jong Young Lee, Sung Soo Kim, Yeonjung Kim
Center for Genome Science, Korea National Institute of Health, Korea Centers for Disease Control and Prevention, Osong Health Technology Administration Complex, 187, Osongsaengmyeong2-ro, Gangoe-myeon, Cheongwon-gun, Chungcheongbuk-do, 363-951, Korea. kim
Chronic inflammation has been implicated as one of the important etiological factors in insulin resistance and type 2 diabetes mellitus (T2DM). To investigate the role of anti-inflammatory cytokines in the development of T2DM, we conducted a case-control study to assess the association between IL4/IL4R polymorphisms and disease risk. We firstly identified single nucleotide polymorphisms (SNP) at IL4 and IL4RA loci by sequencing the loci in Korean participants. Case-control studies were conducted by genotyping the SNPs in 474 T2DM cases and 470 non-diabetic controls recruited from community-based cohorts. Replication of the associated signals was performed in 1,216 cases and 1,352 controls. We assessed effect of IL4-IL4RA interaction on T2DM using logistic regression method. The functional relevance of the SNP associated with disease risk was determined using a reporter expression assay. We identified a strong association between the IL4 promoter variant rs2243250 and T2DM risk (OR=0.77; 95% CI, 0.67~0.88; p=1.65x10-4 in the meta-analysis). The reporter gene expression assay demonstrated that the presence of rs2243250 might affect the gene expression level with ~1.5-fold allele difference. Our findings contribute to the identification of IL4 as a T2D susceptibility locus, further supporting the role of anti-inflammatory cytokines in T2DM disease development.
Keywords: type 2 diabetes mellitus; single nucleotide polymorphisms; IL4; IL4R; anti-inflammatory cytokine; gene-gene interaction


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