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GWAS Study

Genome-wide association study for femoral neck bone geometry.

Zhao LJ, Liu XG, Liu YZ et al.

20175129 PubMed ID
GWAS Study Type
4593 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

ZL
Zhao LJ
LX
Liu XG
LY
Liu YZ
LY
Liu YJ
PC
Papasian CJ
SB
Sha BY
PF
Pan F
GY
Guo YF
WL
Wang L
YH
Yan H
XD
Xiong DH
TZ
Tang ZH
YT
Yang TL
CX
Chen XD
GY
Guo Y
LJ
Li J
SH
Shen H
ZF
Zhang F
LS
Lei SF
RR
Recker RR
DH
Deng HW
Chapter II

Abstract

Summary of the research findings

Poor femoral neck bone geometry at the femur is an important risk factor for hip fracture. We conducted a genome-wide association study (GWAS) of femoral neck bone geometry, examining approximately 379,000 eligible single-nucleotide polymorphisms (SNPs) in 1000 Caucasians. A common genetic variant, rs7430431 in the receptor transporting protein 3 (RTP3) gene, was identified in strong association with the buckling ratio (BR, P = 1.6 x 10(-7)), an index of bone structural instability, and with femoral cortical thickness (CT, P = 1.9 x 10(-6)). The RTP3 gene is located in 3p21.31, a region that we found to be linked with CT (LOD = 2.19, P = 6.0 x 10(-4)) in 3998 individuals from 434 pedigrees. The replication analyses in 1488 independent Caucasians and 2118 Chinese confirmed the association of rs7430431 to BR and CT (combined P = 7.0 x 10(-3) for BR and P = 1.4 x 10(-2) for CT). In addition, 350 hip fracture patients and 350 healthy control individuals were genotyped to assess the association of the RTP3 gene with the risk of hip fracture. Significant association between a nearby common SNP, rs10514713 of the RTP3 gene, and hip fracture (P = 1.0 x 10(-3)) was found. Our observations suggest that RTP3 may be a novel candidate gene for femoral neck bone geometry.

987 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

4593
Total Participants
GWAS
Study Type
Yes
Replicated
1,488 European ancestry individuals, 2,118 Chinese ancestry individuals
Replication Participants
European, East Asian
Ancestry
U.S., China
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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