IL-12p40 Is Associated With Type 1 Diabetes in Caucasian-American Families
- From the Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, Florida
Abstract
The IL-12p40 locus has recently been shown to be associated with type 1 diabetes (1). Here, we report the identification of novel microsatellite and single-nucleotide polymorphisms (SNPs) within the IL-12p40 gene and a significant association between a (ATT)n repeat marker and type 1 diabetes in 364 U.S. Caucasian sib-pair families (P < 0.006). Haplotype analysis using the (ATT)n repeat (D5S2941) and the C1159A SNP at the 3′ untranslated region of IL-12p40 showed a significant association (P = 0.02). Expression studies in individuals heterozygous for the C1159A SNP indicated that the expression of the 1159A allele is ∼50% higher than that of the 1159C allele. These results provide genetic and functional evidence for IL-12p40 as a type 1 diabetes susceptibility gene.
Footnotes
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Address correspondence and reprint requests to Jin-Xiong She, PhD, Professor and Eminent Scholar in Genomic Medicine, Director, Center for Biotechnology and Genomic Medicine, Medical College of Georgia, 1120 15th St., PVB108, Augusta, GA 30912. E-mail: JSHE{at}mail.mcg.edu.
Received for publication18 January 2002 and accepted in revised form 16 April 2002.
BAC, bacterial artificial chromosome; IFN-γ, interferon-γ; IL, interleukin; LPS, lipopolysaccharides; SNP, single-nucleotide polymorphism; TDT, transmission disequilibrium test; UTR, untranslated region.
- DIABETES
