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Genetic Studies of Ankylosing Spondylitis in Koreans Confirm Associations with ERAP1 and 2p15 Reported in White Patients

Title
Genetic Studies of Ankylosing Spondylitis in Koreans Confirm Associations with ERAP1 and 2p15 Reported in White Patients
Author
김태환
Keywords
ANKYLOSING SPONDYLITIS; ERAP1; 2p15; KOREA; SINGLE-NUCLEOTIDE POLYMORPHISM
Issue Date
2011-02
Publisher
Journal of Rheumatology
Citation
Journal of Rheumatology, 2011, 38(2), P.322-324
Abstract
Objective. Investigators from the Australo-Anglo-American Spondyloarthritis Consortium have reported additional genes associated with ankylosing spondylitis (AS) susceptibility including IL1R2, ANTXR2, and gene deserts at 2p15 and 21q22. We evaluated these new candidate genes in a large cohort of Korean patients with AS. Methods. A group of 1164 patients with AS and 752 healthy controls were enrolled for our study. Eight single-nucleotide polymorphisms (SNP) were analyzed to define genetic association with AS by MassARRAY system. Results. Significant positive associations of AS with endoplasmic reticulum aminopeptidase 1 SNP, rs27037 (p = 1.31 x 10(-4)), and rs27434 (p = 4.59 x 10(-6)), were observed. The rs10865331 of gene desert at 2p15 also showed a significant association with AS (p = 4.63 x 10(-5)). Conclusion. This is the first confirmation in a nonwhite population that genetic polymorphisms of rs27037, rs27434, and rs10865331 are associated with AS, implicating common pathogenetic mechanisms in Korean and white patients with AS. (First Release Nov 1 2010; J Rheumatol 2011; 38:322-4; doi:10.3899/jrheum.100652)
URI
http://www.jrheum.org/content/38/2/322
ISSN
0315-162X; 1499-2752
DOI
10.3899/jrheum.100652
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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