All polymorphisms studied in this paper [PMID: 18728048] , total : 7 polymorphisms

Title : Evidence of epistasis between interleukin 1 and selenoprotein-S with susceptibility to rheumatoid arthritis.

Abstract : OBJECTIVE: Selenoprotein-S (SELS) is involved in the stress response within the endoplasmic reticulum (ER) and inflammation. Recently, promoter variants in the SELS gene were shown to be associated with plasma levels of interleukin (IL)6, IL1beta and tumour necrosis factor (TNF). It was hypothesised that these variants could influence rheumatoid arthritis (RA) susceptibility and may interact with functional single nucleotide polymorphisms (SNPs) in the genes for IL1, IL6 and TNF. METHODS: Genotyping was performed in 988 unrelated healthy controls and 965 patients with RA. Stratified analysis was used to test for interactions. Single gene effects and evidence of epistasis were investigated using the Mantel-Haenszel (M-H) test and the linkage disequilibrium (LD)-based statistic. RESULTS: No association of SELS -105 genotype and RA susceptibility was detected. Stratification of SELS -105 genotypes by IL1 -511 genotypes showed that the disease risk (comparing AA/GA to GG at the SELS -105 locus) in individuals with the GG/AG genotype at the IL1beta -511 locus was significantly lower than that in individuals having the AA genotype at the IL1beta -511 locus (odds ratio (OR): 0.9 and 2.3, respectively; p = 0.004 by M-H test). Significant epistasis was also detected using the LD-based statistic (p = <0.001). No interaction was observed between SELS -105 and IL6 or TNF variants. CONCLUSION: Our results reveal evidence of strong epistasis in two genes in the IL1 production pathway and highlight the potential importance of gene-gene interactions in the pathogenesis of RA.

Author : Marinou I,Walters K,Dickson MC,Binks MH,Bax DE,Wilson AG,

Source : Ann Rheum Dis. 2009 Sep;68(9):1494-7. doi: 10.1136/ard.2008.090001. Epub 2008 Aug 26.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs16944	IL1B	3553
2	NA	IL1A	3552
3	rs1800795	IL6	3569
4	rs1800629	TNF	7124
5	rs28665122	VIMP	55829
6	rs4965814	VIMP	55829
7	rs4965373	VIMP	55829