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GWAS Study

A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.

Nakajima M, Takahashi A, Tsuji T et al.

25064007 PubMed ID
GWAS Study Type
14939 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

NM
Nakajima M
TA
Takahashi A
TT
Tsuji T
KT
Karasugi T
BH
Baba H
UK
Uchida K
KS
Kawabata S
OA
Okawa A
SS
Shindo S
TK
Takeuchi K
TY
Taniguchi Y
MS
Maeda S
KM
Kashii M
SA
Seichi A
NH
Nakajima H
KY
Kawaguchi Y
FS
Fujibayashi S
TM
Takahata M
TT
Tanaka T
WK
Watanabe K
KK
Kida K
KT
Kanchiku T
IZ
Ito Z
MK
Mori K
KT
Kaito T
KS
Kobayashi S
YK
Yamada K
TM
Takahashi M
CK
Chiba K
MM
Matsumoto M
FK
Furukawa K
KM
Kubo M
TY
Toyama Y
IS
Ikegawa S
Chapter II

Abstract

Summary of the research findings

Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common spinal disorder among the elderly that causes myelopathy and radiculopathy. To identify genetic factors for OPLL, we performed a genome-wide association study (GWAS) in ∼8,000 individuals followed by a replication study using an additional ∼7,000 individuals. We identified six susceptibility loci for OPLL: 20p12.3 (rs2423294: P = 1.10 × 10(-13)), 8q23.1 (rs374810: P = 1.88 × 10(-13)), 12p11.22 (rs1979679: P = 4.34 × 10(-12)), 12p12.2 (rs11045000: P = 2.95 × 10(-11)), 8q23.3 (rs13279799: P = 1.28 × 10(-10)) and 6p21.1 (rs927485: P = 9.40 × 10(-9)). Analyses of gene expression in and around the loci suggested that several genes are involved in OPLL etiology through membranous and/or endochondral ossification processes. Our results bring new insight to the etiology of OPLL.

1,112 Japanese ancestry cases, 6,810 Japanese ancestry controls

Chapter III

Study Statistics

Key metrics and study information

14939
Total Participants
GWAS
Study Type
Yes
Replicated
548 Japanese ancestry cases, 6,469 Japanese ancestry controls
Replication Participants
East Asian
Ancestry
Japan
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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