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GWAS Study

Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.

Ran S, Pei YF, Liu YJ et al.

23593202 PubMed ID
GWAS Study Type
3055 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

RS
Ran S
PY
Pei YF
LY
Liu YJ
ZL
Zhang L
HY
Han YY
HR
Hai R
TQ
Tian Q
LY
Lin Y
YT
Yang TL
GY
Guo YF
SH
Shen H
TI
Thethi IS
ZX
Zhu XZ
DH
Deng HW
Chapter II

Abstract

Summary of the research findings

Femoral neck geometric parameters (FNGPs), which include cortical thickness (CT), periosteal diameter (W), buckling ratio (BR), cross-sectional area (CSA), and section modulus (Z), contribute to bone strength and may predict hip fracture risk. Age at menarche (AAM) is an important risk factor for osteoporosis and bone fractures in women. Some FNGPs are genetically correlated with AAM. In this study, we performed a bivariate genome-wide association study (GWAS) to identify new candidate genes responsible for both FNGPs and AAM. In the discovery stage, we tested 760,794 SNPs in 1,728 unrelated Caucasian subject, followed by replication analyses in independent samples of US Caucasians (with 501 subjects) and Chinese (with 826 subjects). We found six SNPs that were associated with FNGPs and AAM. These SNPs are located in three genes (i.e. NRCAM, IDS and LOC148145), suggesting these three genes may co-regulate FNGPs and AAM. Our findings may help improve the understanding of genetic architecture and pathophysiological mechanisms underlying both osteoporosis and AAM.

1,728 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

3055
Total Participants
GWAS
Study Type
Yes
Replicated
501 European ancestry individuals, 826 Chinese ancestry individuals
Replication Participants
East Asian, European
Ancestry
China, U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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