All polymorphisms studied in this paper [PMID: 21784728] , total : 24 polymorphisms

Title : Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.

Abstract : BACKGROUND: The genome-wide association study era has made great progress in identifying susceptibility genes and genetic loci for rheumatoid arthritis (RA) in populations of White European ancestry. However, few studies have tried to dissect disease aetiopathogenesis in other ethnic populations. OBJECTIVE: To investigate these associations in the Han Chinese population. METHODS: Haplotypes from the HapMap database Chinese population were used to select tag-single-nucleotide polymorphisms (SNPs) (r(2)=0.8) across 19 distinct RA genomic regions. A two phase case-control association study was performed, with 169 SNPs genotyped in phase I (n=571 cases, n=880 controls), and 64 SNPs achieving p<0.2 in the first phase being genotyped in phase II (n=464 cases, n=822 controls). Association statistics were calculated using permutation tests both unadjusted and adjusted for the number of markers studied. RESULTS: Robust association was detected for MMEL1 and CTLA4, and modest association was identified for another six loci: PADI4, STAT4, PRDM1, CDK6, TRAF1-C5 and KIF5A-PIP4K2C. All three markers genotyped in MMEL1 demonstrated association, with peak signal for rs3890745 (p=2.6 x 10(-5) unadjusted, p=0.003 adjusted, OR=0.79). For CTLA4, significance was detected for three of five variants showing association, with peak association for marker rs12992492 (p=4.3 x 10(-5) unadjusted, p=0.0021 adjusted, OR=0.77). Lack of association of common variants in PTPN22 with RA in Han Chinese was confirmed. CONCLUSION: This study identifies MMEL1 and CTLA4 as RA susceptibility genes, provides suggestive evidence of association for a further six loci in the Han Chinese population and confirms lack of PTPN22 association in Asian populations. It also confirms the value of multiethnic population studies to help dissect disease aetiopathogenesis.

Author : Danoy P,Wei M,Johanna H,Jiang L,He D,Sun L,Zeng X,Visscher PM,Brown MA,Xu H,

Source : Ann Rheum Dis. 2011 Oct;70(10):1793-7. doi: 10.1136/ard.2010.144576. Epub 2011 Jul 21.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs10910097	FAM213B	127281
2	rs12564460	MMEL1	79258
3	rs3890745	MMEL1	79258
4	rs4920591	PADI4	23569
5	rs16833215	STAT4	6775
6	rs11893432	STAT4	6775
7	rs7574070	STAT4	6775
8	rs12992492	NA	NA
9	rs733618	CTLA4	1493
10	rs3087243	CTLA4	1493
11	rs1427676	NA	NA
12	rs10497873	NA	NA
13	rs547057	PRDM1	639
14	rs12526490	NA	NA
15	rs802791	NA	NA
16	rs10225965	CDK6	1021
17	rs2282983	CDK6	1021
18	rs10278890	CDK6	1021
19	rs2282993	CDK6	1021
20	rs2239658	TRAF1	7185
21	rs10118357	TRAF1	7185
22	rs3761847	TRAF1	7185
23	rs775246	KIF5A	3798
24	rs775251	KIF5A	3798