Investigating the viability of genetic screening/testing for RA susceptibility using combinations of five confirmed risk loci.

ABSTRACT:

Objective

Five loci-the shared epitope (SE) of HLA--DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a locus mapping to the TRAF1/C5 genetic region--have now been unequivocally confirmed as conferring susceptibility to RA. The largest single effect is conferred by SE. We hypothesized that combinations of susceptibility alleles may increase risk over and above that of any individual locus alone.

Methods

We analysed data from 4238 RA cases and 1811 controls, for which genotypes were available at all five loci.

Results

Statistical analysis identified eight high-risk combinations conferring an odds ratio >6 compared with carriage of no susceptibility variants and, interestingly, 10% population controls carried a combination conferring high risk. All high-risk co

SUBMITTER: McClure A 

PROVIDER: S-EPMC2762544 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature