CISH promoter polymorphism effects on T cell cytokine receptor signaling and type 1 diabetes susceptibility.

ABSTRACT:

Background

Impaired regulatory T cell immunity plays a central role in the development of type 1 diabetes (T1D). Interleukin-2 receptor (IL-2R) signaling is essential for regulatory T cells (T_REG), and cytokine-inducible SH2-containing protein (CIS) regulates IL-2R signaling as a feedback inhibitor. Previous studies identified association of CISH promoter region single nucleotide polymorphisms (SNPs) with susceptibility to infectious diseases.

Methods

Here we analyzed allele frequencies of three CISH SNPs (i.e., rs809451, rs414171, rs2239751) in a study of T1D patients (n = 260, onset age < 5 years, duration > 10 years). Minor allele frequencies were compared to a control cohort of the 1000 Genomes Project. Assigned haplotypes were determined for effects on T1D ma

SUBMITTER: Seyfarth J 

PROVIDER: S-EPMC5801137 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature