Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pone.0060362
Title: Bivariate Genome-Wide Association Analyses Identified Genes with Pleiotropic Effects for Femoral Neck Bone Geometry and Age at Menarche
Authors: Ran S.
Pei Y.-F.
Liu Y.-J.
Zhang L.
Han Y.-Y.
Hai R.
Tian Q.
Lin Y.
Yang T.-L.
Guo Y.-F.
Shen H. 
Thethi I.S.
Zhu X.-Z.
Deng H.-W.
Keywords: genomic DNA
iduronate 2 sulfatase
adult
article
buckling ratio
Caucasian
Chinese
controlled study
cortical thickness (bone)
cross sectional area
female
femoral neck geometric parameters
fracture
gene
gene identification
gene location
genetic analysis
genetic association
genetic regulation
human
IDS gene
LOC148145 gene
menarche
musculoskeletal system parameters
Nrcam gene
osteoporosis
pathophysiology
periosteal diameter
pleiotropy
replication study
risk assessment
section modulus
single nucleotide polymorphism
United States
Adult
Age Factors
Aged
Asian Continental Ancestry Group
European Continental Ancestry Group
Female
Femur Neck
Genome-Wide Association Study
Genotype
Humans
Linkage Disequilibrium
Menarche
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Young Adult
Issue Date: 2013
Citation: Ran S., Pei Y.-F., Liu Y.-J., Zhang L., Han Y.-Y., Hai R., Tian Q., Lin Y., Yang T.-L., Guo Y.-F., Shen H., Thethi I.S., Zhu X.-Z., Deng H.-W. (2013). Bivariate Genome-Wide Association Analyses Identified Genes with Pleiotropic Effects for Femoral Neck Bone Geometry and Age at Menarche. PLoS ONE 8 (4) : e60362. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0060362
Abstract: 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. © 2013 Ran et al.
Source Title: PLoS ONE
URI: https://scholarbank.nus.edu.sg/handle/10635/161332
ISSN: 19326203
DOI: 10.1371/journal.pone.0060362
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