IL-12p40 is associated with type 1 diabetes in Caucasian-American families.
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 approximately 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.
Davoodi-Semiromi
Abdoreza
A
Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, Florida, USA.
Yang
James J
JJ
She
Jin-Xiong
JX
D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics*; D053762:Interleukin-12 Subunit p40; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D021122:Protein Subunits; D014481:United States; D044465:White People / Q000235:genetics*
D005819:Genetic Markers; D053762:Interleukin-12 Subunit p40; D021122:Protein Subunits; D018664:Interleukin-12