All polymorphisms studied in this paper [PMID: 23636220] , total : 9 polymorphisms

Title : Enrichment of vitamin D response elements in RA-associated loci supports a role for vitamin D in the pathogenesis of RA.

Abstract : The aim of this study was to explore the role of vitamin D in rheumatoid arthritis (RA) pathogenesis by investigating the enrichment of vitamin D response elements (VDREs) in confirmed RA susceptibility loci and testing variants associated with vitamin D levels for association with RA. Bioinformatically, VDRE genomic positions were overlaid with non-HLA (human leukocyte antigen)-confirmed RA susceptibility regions. The number of VDREs at RA loci was compared to a randomly selected set of genomic loci to calculate an average relative risk (RR). Single-nucleotide polymorphisms (SNPs) in the DHCR7/NADSYN1 (nicotinamide adenine dinucleotide synthase 1) and CYP2R1 loci, previously associated with circulating vitamin D levels, were tested in UK RA cases (n=3870) and controls (n=8430). Significant enrichment of VDREs was seen at RA loci (P=9.23 x 10(-8)) when regions were defined either by gene (RR 5.50) or position (RR 5.86). SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with RA, rs4944076 (P=0.008, odds ratio (OR) 1.14, 95% confidence interval (CI) 1.03-1.24). The significant enrichment of VDREs at RA-associated loci and the modest association of variants in loci-controlling levels of circulating vitamin D supports the hypothesis that vitamin D has a role in the development of RA.

Author : Yarwood A,Martin P,Bowes J,Lunt M,Worthington J,Barton A,Eyre S,

Source : Genes Immun. 2013 Jul-Aug;14(5):325-9. doi: 10.1038/gene.2013.23. Epub 2013 May 2.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs4944076	NADSYN1	55191
2	rs4944997	NADSYN1	55191
3	rs2919722	SHANK2	22941
4	rs1002171	S100A11P3	645474
5	rs11600569	NADSYN1	55191
6	rs117162870	PDE3B	5140
7	rs116856365	PDE3B	5140
8	rs7116978	PDE3B	5140
9	rs6486205	PDE3B	5140