Genetic studies of ankylosing spondylitis in Koreans confirm associations with ERAP1 and 2p15 reported in white patients.
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)).


CONCLUSIONS
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.
Hanyang University Hospital for Rheumatic Diseases, Seoul 133-792, Republic of Korea.
So-Young
SY
Bang
Tae-Hwan
TH
Kim
Bitnara
B
Lee
Eunji
E
Kwon
Sang Hyun
SH
Choi
Ki Soo
KS
Lee
Seung Cheol
SC
Shim
Angela
A
Pope
Proton
P
Rahman
John D
JD
Reveille
Robert D
RD
Inman
D000328:Adult; D000483:Alleles; D000626:Aminopeptidases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D015778:Minor Histocompatibility Antigens; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D013167:Spondylitis, Ankylosing / Q000235:genetics*; D011795:Surveys and Questionnaires
D015778:Minor Histocompatibility Antigens; D000626:Aminopeptidases; C464841:ERAP1 protein, human