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Objective  Type 1 diabetes (T1D) and rheumatoid arthritis (RA) are autoimmune diseases. It is known that certain genetic loci and factors that increase the overall autoimmunity risk can be shared among different autoimmune diseases. We sought to replicate seven T1D-related SNPs (single nucleotide polymorphisms) that have been previously reported to be associated with RA susceptibility in a small set of mixed family-based and case–control Pakistani sample in a relatively large and independent RA case–control sample from the same population. Seven T1D-associated SNPs ( GLIS3 /rs7020673,  BACH2 /rs11755527,  SKAP2 /rs7804356,  GDSMB /rs2290400,  C6orf173 /rs9388489,  LOC399716 /rs947474 and  DLK1 - MEG2 /rs941576) were genotyped in a large Pakistani RA case–control sample (n = 1959) using TaqMan ®  SNP genotyping assays.    Results  None of the tested SNPs showed statistically significant association with RA susceptibility; however, one SNP ( GLIS3 /rs7020673) showed a trend for association (OR = 0.88, p = 7.99E−02). Our study has failed to replicate the previously reported association of seven T1D-associated SNPs with RA risk in a large sample from the same population. Thus, our results do not support a major role of these T1D SNPs in affecting RA susceptibility in the Pakistani population.

Exploration of shared genetic susceptibility loci between type 1 diabetes and rheumatoid arthritis in the Pakistani population