Replication of European rheumatoid arthritis loci in a Pakistani population

Syed Fazal Jalil, Attya Bhatti, F. Yesim Demirci, Xingbin Wang, Iltaf Ahmed, Mushtaq Ahmed, M. Michael Barmada, Javaid M. Malik, Peter John, M. Ilyas Kamboh

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


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. The Journal of Rheumatology

Original languageEnglish
Pages (from-to)401-407
Number of pages7
JournalJournal of Rheumatology
Issue number4
Publication statusPublished - Apr 2013
Externally publishedYes


  • Autoimmune disease
  • Related-unrelated association study
  • Rheumatoid arthritis
  • Susceptibility


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