Title : Replication of European rheumatoid arthritis loci in a Pakistani population. |
Abstract : 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. |
Author : Jalil SF,Bhatti A,Demirci FY,Wang X,Ahmed I,Ahmed M,Barmada MM,Malik JM,John P,Kamboh MI, |
Source : J Rheumatol. 2013 Apr;40(4):401-7. doi: 10.3899/jrheum.121050. Epub 2013 Feb 1. |
No. | Polymorphism name | Gene Symbol | Entrez Gene ID |
---|---|---|---|
1 | rs1678542 | KIF5A | 3798 |
2 | rs11586238 | NA | NA |
3 | rs10499194 | NA | NA |
4 | rs660895 | NA | NA |
5 | rs7574865 | STAT4 | 6775 |
6 | rs10488631 | TNPO3 | 23534 |
7 | rs13031237 | REL | 5966 |
8 | rs6859219 | ANKRD55 | 79722 |
9 | rs540386 | TRAF6 | 7189 |
10 | rs394581 | NA | NA |
11 | rs26232 | C5orf30 | 90355 |
12 | rs2736340 | NA | NA |
13 | rs6920220 | NA | NA |
14 | rs548234 | NA | NA |
15 | rs2812378 | CCL21 | 6366 |
16 | rs1980422 | NA | NA |
17 | rs4750316 | DKFZp667F0711 | 399716 |
18 | rs10865035 | LINC01104 | 150577 |
19 | rs874040 | NA | NA |
20 | rs3761847 | TRAF1 | 7185 |
21 | rs6822844 | NA | NA |
22 | rs2476601 | PTPN22 | 26191 |
23 | rs3087243 | CTLA4 | 1493 |
24 | rs5029937 | TNFAIP3 | 7128 |
25 | rs3890745 | MMEL1 | 79258 |
26 | rs3093023 | CCR6 | 1235 |
27 | rs2104286 | IL2RA | 3559 |
28 | rs10919563 | PTPRC | 5788 |
29 | rs934734 | SPRED2 | 200734 |
30 | rs12746613 | NA | NA |