Replication of European Rheumatoid Arthritis Loci in a Pakistani Population

Objective. Genetic studies have identified several rheumatoid arthritis (RA) susceptibility loci in European-derived populations. The same biological pathways may be involved in determining the RA risk in different population groups. We sought to replicate the association of 33 single-nucleotide polymorphisms (SNP) from 31 RA susceptibility loci confirmed among Europeans in a unique Pakistani population. Methods. We genotyped 33 SNP in a sample of 366 Pakistanis that comprised related and unrelated cases and controls. Genotyping was performed using TaqMan assays and the results were analyzed with family case-control software. Results. Twelve of the 33 SNP were replicated in this sample with significant p values ranging from 7.05E-06 to 3.72E-02, the most significant being the KIF5A-PIP4K2C/rs1678542 SNP. Conclusion. Our observations suggest that a number of RA susceptibility loci and related pathways are shared across different populations. (First Release Feb 1 2013; J Rheumatol 2013;40:401-7; doi:10.3899/jrheum.121050)