All polymorphisms studied in this paper [PMID: 20179762] , total : 19 polymorphisms

Title : Analysis of neuropeptide S receptor gene (NPSR1) polymorphism in rheumatoid arthritis.

Abstract : BACKGROUND: Polymorphism in the neuropeptide S receptor gene NPSR1 is associated with asthma and inflammatory bowel disease. NPSR1 is expressed in the brain, where it modulates anxiety and responses to stress, but also in other tissues and cell types including lymphocytes, the lungs, and the intestine, where it appears to be up-regulated in inflammation. We sought to determine whether genetic variability at the NPSR1 locus influences the susceptibility and clinical manifestation of rheumatoid arthritis (RA). METHODOLOGY/PRINCIPAL FINDINGS: From the Epidemiological Investigation of Rheumatoid Arthritis (EIRA) case-control study, 1,888 rheumatoid arthritis patients and 888 controls were genotyped for 19 single-nucleotide polymorphisms (SNPs) spanning the entire NPSR1 gene and 220 KB of DNA on chromosome 7p14. The association between individual genetic markers and their haplotypic combinations, respectively, and diagnosis of RA, presence of autoantibodies to citrullinated proteins (ACPA), and disease activity score based on 28 joints (DAS28) was tested. There was no association between diagnosis of RA and NPSR1 variants. However, several associations of nominal significance were detected concerning susceptibility to ACPA-negative RA and disease activity measures (DAS28). Among these, the association of SNP rs324987 with ACPA-negative RA [(p=0.004, OR=0.674 (95% CI 0.512-0.888)] and that of SNP rs10263447 with DAS28 [p=0.0002, OR=0.380 (95% CI 0.227-0.635)] remained significant after correction for multiple comparisons. CONCLUSIONS/SIGNIFICANCE: NPSR1 polymorphism may be relevant to RA susceptibility and its clinical manifestation. Specific alleles at the NPSR1 locus may represent common risk factors for chronic inflammatory diseases, including RA.

Author : D'Amato M,Zucchelli M,Seddighzadeh M,Anedda F,Lindblad S,Kere J,Alfredsson L,Klareskog L,Padyukov L,

Source : PLoS One. 2010 Feb 22;5(2):e9315. doi: 10.1371/journal.pone.0009315.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs2530543	NPSR1	387129
2	rs1023556	NPSR1	387129
3	rs10274146	NPSR1	387129
4	rs13246143	NPSR1	387129
5	rs10259175	NPSR1	387129
6	rs323917	NPSR1	387129
7	rs323922	NPSR1	387129
8	rs1419791	NPSR1	387129
9	rs324377	NPSR1	387129
10	rs324389	NPSR1	387129
11	rs324398	NPSR1	387129
12	rs324396	NPSR1	387129
13	rs324966	NPSR1	387129
14	rs740347	NPSR1	387129
15	rs324981	NPSR1	387129
16	rs324987	NPSR1	387129
17	rs10263447	NPSR1	387129
18	rs6972158	NPSR1	387129
19	rs6958905	NPSR1	387129