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Title: Genome-Wide Association Study Identified CNP12587 Region Underlying Height Variation in Chinese Females
Authors: Zhang Y.-P.
Deng F.-Y.
Yang T.-L.
Zhang F.
Chen X.-D.
Shen H. 
Zhu X.-Z.
Tian Q.
Deng H.-W.
Keywords: ubiquitin protein ligase NEDD4
anthropometric parameters
body height
bone metabolism
copy number polymorphism
copy number variation
gene activity
gene function
gene mapping
genetic analysis
genetic association
genetic polymorphism
genetic variability
human experiment
NEDD4L gene
population dynamics
sex difference
Issue Date: 2012
Citation: Zhang Y.-P., Deng F.-Y., Yang T.-L., Zhang F., Chen X.-D., Shen H., Zhu X.-Z., Tian Q., Deng H.-W. (2012). Genome-Wide Association Study Identified CNP12587 Region Underlying Height Variation in Chinese Females. PLoS ONE 7 (9) : e44292. ScholarBank@NUS Repository.
Abstract: Introduction: Human height is a highly heritable trait considered as an important factor for health. There has been limited success in identifying the genetic factors underlying height variation. We aim to identify sequence variants associated with adult height by a genome-wide association study of copy number variants (CNVs) in Chinese. Methods: Genome-wide CNV association analyses were conducted in 1,625 unrelated Chinese adults and sex specific subgroup for height variation, respectively. Height was measured with a stadiometer. Affymetrix SNP6.0 genotyping platform was used to identify copy number polymorphisms (CNPs). We constructed a genomic map containing 1,009 CNPs in Chinese individuals and performed a genome-wide association study of CNPs with height. Results: We detected 10 significant association signals for height (p<0.05) in the whole population, 9 and 11 association signals for Chinese female and male population, respectively. A copy number polymorphism (CNP12587, chr18:54081842-54086942, p = 2.41×10-4) was found to be significantly associated with height variation in Chinese females even after strict Bonferroni correction (p = 0.048). Confirmatory real time PCR experiments lent further support for CNV validation. Compared to female subjects with two copies of the CNP, carriers of three copies had an average of 8.1% decrease in height. An important candidate gene, ubiquitin-protein ligase NEDD4-like (NEDD4L), was detected at this region, which plays important roles in bone metabolism by binding to bone formation regulators. Conclusions: Our findings suggest the important genetic variants underlying height variation in Chinese. © 2012 Zhang et al.
Source Title: PLoS ONE
ISSN: 19326203
DOI: 10.1371/journal.pone.0044292
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