Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pgen.1000806
Title: Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis
Authors: Guo Y.
Tan L.-J.
Lei S.-F.
Yang T.-L.
Chen X.-D.
Zhang F.
Chen Y.
Pan F.
Yan H.
Liu X.
Tian Q.
Zhang Z.-X.
Zhou Q.
Qiu C.
Dong S.-S.
Xu X.-H.
Guo Y.-F.
Zhu X.-Z.
Liu S.-L. 
Wang X.-L.
Li X.
Luo Y.
Zhang L.-S.
Li M.
Wang J.-T.
Wen T.
Drees B.
Hamilton J.
Papasian C.J.
Recker R.R.
Song X.-P.
Cheng J.
Deng H.-W.
Keywords: acetaldehyde
aldehyde dehydrogenase
ALDH7A1 protein, human
adult
aged
aging
aldh7a1 gene
article
bone density
case control study
Caucasian
cell proliferation
Chinese
chromosome 5
controlled study
female
follow up
gene
gene identification
gene replication
genetic susceptibility
genome analysis
groups by age
human
major clinical study
male
ossification
osteoblast
osteoporosis
pathogenesis
risk factor
single nucleotide polymorphism
Asian
genetic association
genetic predisposition
genetics
middle aged
pathophysiology
Aged
Aldehyde Dehydrogenase
Asian Continental Ancestry Group
Bone Density
Case-Control Studies
European Continental Ancestry Group
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Male
Middle Aged
Osteoporosis
Polymorphism, Single Nucleotide
Issue Date: 2010
Citation: Guo Y., Tan L.-J., Lei S.-F., Yang T.-L., Chen X.-D., Zhang F., Chen Y., Pan F., Yan H., Liu X., Tian Q., Zhang Z.-X., Zhou Q., Qiu C., Dong S.-S., Xu X.-H., Guo Y.-F., Zhu X.-Z., Liu S.-L., Wang X.-L., Li X., Luo Y., Zhang L.-S., Li M., Wang J.-T., Wen T., Drees B., Hamilton J., Papasian C.J., Recker R.R., Song X.-P., Cheng J., Deng H.-W. (2010). Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. PLoS Genetics 6 (1) : e1000806. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1000806
Abstract: Osteoporosis is a major public health problem. It is mainly characterized by low bone mineral density (BMD) and/or lowtrauma osteoporotic fractures (OF), both of which have strong genetic determination. The specific genes influencing these phenotypic traits, however, are largely unknown. Using the Affymetrix 500K array set, we performed a case-control genomewide association study (GWAS) in 700 elderly Chinese Han subjects (350 with hip OF and 350 healthy matched controls). A follow-up replication study was conducted to validate our major GWAS findings in an independent Chinese sample containing 390 cases with hip OF and 516 controls. We found that a SNP, rs13182402 within the ALDH7A1 gene on chromosome 5q31, was strongly associated with OF with evidence combined GWAS and replication studies (P = 2.08×10 -9 , odds ratio = 2.25). In order to explore the target risk factors and potential mechanism underlying hip OF risk, we further examined this candidate SNP's relevance to hip BMD both in Chinese and Caucasian populations involving 9,962 additional subjects. This SNP was confirmed as consistently associated with hip BMD even across ethnic boundaries, in both Chinese and Caucasians (combined P = 6.39×10 -6 ), further attesting to its potential effect on osteoporosis. ALDH7A1 degrades and detoxifies acetaldehyde, which inhibits osteoblast proliferation and results in decreased bone formation. Our findings may provide new insights into the pathogenesis of osteoporosis. © 2010 Guo et al.
Source Title: PLoS Genetics
URI: https://scholarbank.nus.edu.sg/handle/10635/161668
ISSN: 15537390
DOI: 10.1371/journal.pgen.1000806
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