Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.
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 approximately 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 x 10(-5) to 3.11 x 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 the 13 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 approximately 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.
Lei
Shu-Feng
SF
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.
Yang
Tie-Lin
TL
Tan
Li-Jun
LJ
Chen
Xiang-Ding
XD
Guo
Yan
Y
Guo
Yan-Fang
YF
Zhang
Liang
L
Liu
Xiao-Gang
XG
Yan
Han
H
Pan
Feng
F
Zhang
Zhi-Xin
ZX
Peng
Yu-Mei
YM
Zhou
Qi
Q
He
Li-Na
LN
Zhu
Xue-Zhen
XZ
Cheng
Jing
J
Liu
Yao-Zhong
YZ
Papasian
Christopher J
CJ
Deng
Hong-Wen
HW
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001827:Body Height / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics; D055815:Young Adult