IL-12p40 is associated with type 1 diabetes in Caucasian-American families

被引：58

作者：

Davoodi-Semiromi, A ^{[1
]}

Yang, JJ ^{[1
]}

She, JX ^{[1
]}

机构：

[1] Univ Florida, Dept Pathol Immunol & Lab Med, Gainesville, FL USA

来源：

DIABETES | 2002年 / 51卷 / 07期

关键词：

D O I：

10.2337/diabetes.51.7.2334

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 similar to50% higher than that of the 1159C allele. These results provide genetic and functional evidence for IL-12P40 as a type 1 diabetes susceptibility gene.

引用

页码：2334 / 2336

页数：3

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