Association of an Anti-inflammatory Cytokine Gene IL4 Polymorphism with the Risk of Type 2 Diabetes Mellitus in Korean Populations

• Published in: Genomics & informatics Vol. 9; no. 3; pp. 114 - 120
• Main Authors: Go, Min-Jin, Min, Hae-Sook, Lee, Jong-Young, Kim, Sung-Soo, Kim, Yeon-Jung
• Format: Journal Article
• Language: English
• Published: 한국유전체학회 30.09.2011
• Subjects: 자연과학일반
• ISSN: 1598-866X; 2234-0742
• DOI: 10.5808/GI.2011.9.3.114

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=1.65×10－4 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. KCI Citation Count: 0