Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes.

ABSTRACT:

Background/hypothesis

HLA, INS, PTPN22 and CTLA4 are considered to be confirmed type 1 diabetes susceptibility genes. HLA, PTPN22 and CTLA4 are known to be involved in immune regulation. Few studies have systematically investigated the joint effect of multiple genetic variants. We evaluated joint effects of the four established genes on the risk of childhood-onset type 1 diabetes.

Methods

We genotyped 421 nuclear families, 1,331 patients and 1,625 controls for polymorphisms of HLA-DRB1, -DQA1 and -DQB1, the insulin gene (INS, -23 HphI), CTLA4 (JO27_1) and PTPN22 (Arg620Trp).

Results

The joint effect of HLA and PTPN22 on type 1 diabetes risk was significantly less than multiplicative in the case-control data, but a multiplicative model could not be rejected in the trio

SUBMITTER: Bjornvold M 

PROVIDER: S-EPMC2270365 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature