Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci |
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Authors: | Shu-Feng Lei Tie-Lin Yang Li-Jun Tan Xiang-Ding Chen Yan Guo Yan-Fang Guo Liang Zhang Xiao-Gang Liu Han Yan Feng Pan Zhi-Xin Zhang Yu-Mei Peng Qi Zhou Li-Na He Xue-Zhen Zhu Jing Cheng Yao-Zhong Liu Christopher J Papasian Hong-Wen Deng |
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Institution: | 1. Laboratory of Molecular and Statistical Genetics and Key Laboratory of Protein Chemistry and Developmental Biology of Ministry of Education, College of Life Sciences, Hunan Normal University, 410081, Changsha, Hunan, People’s Republic of China 4. School of Medicine, University of Missouri-Kansas City, Kansas City, 64108, MO, USA 2. The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi’an Jiaotong University, 710049, Xi’an, Shanxi, People’s Republic of China 3. National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, People’s Republic of China
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Abstract: | In Caucasian, several studies have identified some common variants associated with human stature variation. However, no such
study was performed in Chinese, which is the largest population in the world and evidently differs from Caucasian in genetic
background. To identify common or ethnic specific genes for stature in Chinese, an initial GWAS and follow-up replication
study were performed. Our initial GWAS study found that a group of 13 contiguous SNPs, which span a region of ~150 kb containing
two neighboring genes, zinc finger protein (ZNP) 510 and ZNP782, achieved strong signals for association with stature, with
P values ranging from 9.71 × 10−5 to 3.11 × 10−6. After false discovery rate correction for multiple testing, 9 of the 13 SNPs remain significant (FDR q = 0.036−0.046). The follow-up replication study in an independent 2,953 unrelated southern Chinese confirmed the association
of rs10816533 with stature (P = 0.029). All the13 SNPs were in consistently strong linkage disequilibrium (D′ > 0.99) and formed a single perfect haplotype block. The minor allele frequencies for the 13 contiguous SNPs have evidently
ethnic difference, which range from 0.21 to 0.33 in Chinese but have as low as ~0.017 reported in dbSNP database in Caucasian.
The present results suggest that the genomic region containing the ZNP510 and ZNP782 genes is an ethnic specific locus associated
with stature variation in Chinese. |
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