Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
21068102
TITLE
Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese.
ABSTRACT
OBJECTIVES NlmCategory: OBJECTIVE
Recent association studies by the Australo-Anglo-American Spondyloarthritis Consortium (TASC) in Caucasian European populations from Australia, North America and the UK have identified a number of genes as being associated with ankylosing spondylitis (AS). A candidate gene study in a Han Chinese population was performed based on these findings to identify associated genes in this population.
METHODS NlmCategory: METHODS
A case-control study was performed in a Han Chinese population of patients with AS (n = 775) and controls (n = 1587) from Shanghai and Nanjing. All patients met the modified New York criteria for AS. The cases and controls were genotyped for 115 single nucleotide polymorphisms (SNPs) tagging IL23R, ERAP1, STAT3, JAK2, TNFRSF1A and TRADD, as well as other confirmation SNPs from the TASC study, using the Sequenom iPlex and the ABI OpenArray platforms. Statistical analysis of genotyped SNPs was performed using the Cochran-Armitage test for trend and meta-analysis was performed using METAL. SNPs in AS-associated genes in this study were then imputed using MaCH, and association with AS tested by logistic regression.
RESULTS NlmCategory: RESULTS
SNPs in TNFRSF1A (rs4149577, p = 8.2 × 10⁻⁴), STAT3 (rs2293152, p = 0.0015; rs1053005, p = 0.017) and ERAP1 (rs27038, p = 0.0091; rs27037, p = 0.0092) were significantly associated with AS in Han Chinese. Association was also observed between AS and the intergenic region 2p15 (rs10865331, p = 0.023). The lack of association between AS and IL23R in Han Chinese was confirmed (all SNPs p > 0.1).
CONCLUSIONS NlmCategory: CONCLUSIONS
The study results demonstrate for the first time that genetic polymorphisms in STAT3, TNFRSF1A and 2p15 are associated with AS in Han Chinese, suggesting common pathogenic mechanisms for the disease in Chinese and Caucasian European populations. Furthermore, previous findings demonstrating that ERAP1, but not IL23R, is associated with AS in Chinese patients were confirmed.
DATE PUBLISHED
2011 Feb
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2010/11/10
entrez 2010/11/12 06:00
pubmed 2010/11/12 06:00
medline 2011/02/18 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Davidson SI Davidson Stuart I SI The University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia.
Liu Y Liu Yu Y
Danoy PA Danoy Patrick A PA
Wu X Wu Xin X
Thomas GP Thomas Gethin P GP
Jiang L Jiang Lei L
Sun L Sun Linyun L
Wang N Wang Niansong N
Han J Han Jun J
Han H Han Huanxing H
Australo-Anglo-American Spondyloarthritis Consortium
Visscher PM Visscher Peter M PM
Brown MA Brown Matthew A MA
Xu H Xu Huji H
INVESTIGATORS
JOURNAL
VOLUME: 70
ISSUE: 2
TITLE: Annals of the rheumatic diseases
ISOABBREVIATION: Ann. Rheum. Dis.
YEAR: 2011
MONTH: Feb
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1468-2060
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Ann Rheum Dis
COUNTRY: England
ISSNLINKING: 0003-4967
NLMUNIQUEID: 0372355
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
P01-052915 PHS HHS United States
R01-AR046208 NIAMS NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Asian Continental Ancestry Group genetics
Case-Control Studies genetics
Genetic Markers genetics
Genetic Predisposition to Disease genetics
Genotype genetics
Humans genetics
Polymorphism, Single Nucleotide genetics
Receptors, Tumor Necrosis Factor, Type I genetics
STAT3 Transcription Factor genetics
Spondylitis, Ankylosing immunology
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Genetic Markers
0 Receptors, Tumor Necrosis Factor, Type I
0 STAT3 Transcription Factor
0 TNFRSF1A protein, human
OTHER ID's