All polymorphisms studied in this paper [PMID: 19734133] , total : 3 polymorphisms

Title : A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis.

Abstract : OBJECTIVE: Variants in CLEC16A have conferred susceptibility to autoimmune diseases in genome-wide association studies. The present work aimed to investigate the locus' involvements in juvenile idiopathic arthritis (JIA) and further explore the association with rheumatoid arthritis (RA), type 1 diabetes (T1D) and Addison's disease (AD) in the Norwegian population. METHODS: Three single nucleotide polymorphisms (SNPs) were genotyped in patients with RA (n=809), JIA (n=509), T1D (n=1211) and AD (n=414) and in healthy controls (n=2149). RESULTS: All diseases were associated with CLEC16A, but with different SNPs. The intron 22 SNP, rs6498169, was associated with RA (p=0.006) and JIA (p=0.016) and the intron 19 SNPs, rs12708716/rs12917716, with T1D (p=1x10-5) and AD (p=2x10-4). The RA association was confined to the anti-cyclic citrullinated peptide antibody (anti-CCP) negative subgroup (p=2x10-4). CONCLUSION: This is the first report of a CLEC16A association with JIA and a split of the RA association according to anti-CCP status. Different causative variants underlie the rheumatic versus the organ specific diseases.

Author : Skinningsrud B,Lie BA,Husebye ES,Kvien TK,Forre O,Flato B,Stormyr A,Joner G,Njolstad PR,Egeland T,Undlien DE,

Source : Ann Rheum Dis. 2010 Aug;69(8):1471-4. doi: 10.1136/ard.2009.114934. Epub 2009 Sep 3.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs12708716	CLEC16A	23274
2	rs12917716	CLEC16A	23274
3	rs6498169	CLEC16A	23274