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GWAS Study

New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.

Nakajima M, Takahashi A, Kou I et al.

20305777 PubMed ID
GWAS Study Type
6693 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

NM
Nakajima M
TA
Takahashi A
KI
Kou I
RC
Rodriguez-Fontenla C
GJ
Gomez-Reino JJ
FT
Furuichi T
DJ
Dai J
SA
Sudo A
UA
Uchida A
FN
Fukui N
KM
Kubo M
KN
Kamatani N
TT
Tsunoda T
MK
Malizos KN
TA
Tsezou A
GA
Gonzalez A
NY
Nakamura Y
IS
Ikegawa S
Chapter II

Abstract

Summary of the research findings

Osteoarthritis (OA) is a common disease that has a definite genetic component. Only a few OA susceptibility genes that have definite functional evidence and replication of association have been reported, however. Through a genome-wide association study and a replication using a total of approximately 4,800 Japanese subjects, we identified two single nucleotide polymorphisms (SNPs) (rs7775228 and rs10947262) associated with susceptibility to knee OA. The two SNPs were in a region containing HLA class II/III genes and their association reached genome-wide significance (combined P = 2.43x10(-8) for rs7775228 and 6.73x10(-8) for rs10947262). Our results suggest that immunologic mechanism is implicated in the etiology of OA.

899 Japanese ancestry cases, 3,396 Japanese ancestry controls

Chapter III

Study Statistics

Key metrics and study information

6693
Total Participants
GWAS
Study Type
Yes
Replicated
167 Japanese ancestry cases, 347 Japanese ancestry controls, 813 European ancestry cases, 1,071 European ancestry controls,
Replication Participants
European, East Asian
Ancestry
Greece, Spain, Japan
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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