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

Authors: So Young Bang; Proton Rahman; Seung Cheol Shim; Angela Pope; John D. Reveille; Eunji Kwon; Sang Hyun Choi; +4 Authors

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

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 × 10−4), and rs27434 (p = 4.59 × 10−6), were observed. The rs10865331 of gene desert at 2p15 also showed a significant association with AS (p = 4.63 × 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.

Keywords

Adult, Male, Genotype, Aminopeptidases, Polymorphism, Single Nucleotide, Minor Histocompatibility Antigens, Asian People, Gene Frequency, Genetic Loci, Chromosomes, Human, Pair 2, Surveys and Questionnaires, Odds Ratio, Humans, Female, Genetic Predisposition to Disease, Spondylitis, Ankylosing, Alleles, Genetic Association Studies

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
41
Top 10%
Top 10%
Top 10%
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