All polymorphisms studied in this paper [PMID: 21765104] , total : 18 polymorphisms

Title : Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.

Abstract : OBJECTIVE: Recent studies have identified several common genes associated with multiple autoimmune diseases that support the hypothesis of the presence of shared or general autoimmunity genes. However, most of this work has been performed in populations of white origin. The main objectives of this study are to replicate the genotype-phenotype correlation between 19 such variants and rheumatoid arthritis (RA), and to evaluate gene-gene interactions between these genes in individuals from an ethnically homogenous nonwhite Colombian population. METHODS: Nineteen single-nucleotide polymorphisms (SNP) from 16 genes/loci were genotyped in 353 RA cases and 368 controls. For each SNP, allelic and genotype-based association tests were applied to evaluate genotype-phenotype correlation. Permutation-based tests were used to validate the statistical significance. Gene-gene interactions were assessed by logistic regression. RESULTS: We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population. The population-attributable risks were estimated as 27%, 34%, and 16% for rs13277113, rs2736340, and rs763361, respectively. We also detected evidence for gene-gene interaction between SNP in MMEL1 (rs3890745) and C80rf13-BLK (rs13277113; p = 0.0002). CONCLUSION: Our results demonstrate that the IL2/IL21 region, C8orf13-BLK, and CD226 influence RA in Colombians, and RA shares some of the pathogenic mechanisms associated with other autoimmune diseases.

Author : Deshmukh HA,Maiti AK,Kim-Howard XR,Rojas-Villarraga A,Guthridge JM,Anaya JM,Nath SK,

Source : J Rheumatol. 2011 Sep;38(9):1866-70. doi: 10.3899/jrheum.110199. Epub 2011 Jul 15.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs3890745	MMEL1	79258
2	rs3766379	CD244	51744
3	rs6682654	CD244	51744
4	rs4505848	KIAA1109	84162
5	rs17388568	ADAD1	132612
6	rs42041	CDK6	1021
7	rs2736340	NA	NA
8	rs13277113	BLK	640
9	rs881375	PHF19	26147
10	rs3761847	TRAF1	7185
11	rs4750316	DKFZp667F0711	399716
12	rs1678542	KIF5A	3798
13	rs3184504	SH2B3	10019
14	rs17696736	NAA25	80018
15	rs12708716	CLEC16A	23274
16	rs1143679	ITGAM	3684
17	rs763361	CD226	10666
18	rs4810485	CD40	958