Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.
Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.
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全基因组关联扫描中国人的身高：种族特定位点的证据
DOI：
10.1007/s00439-008-0590-9
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发表时间：
2009-02
期刊：
影响因子：
5.3
通讯作者：
Deng HW
中科院分区：
文献类型：
--
作者：
Lei SF;Yang TL;Tan LJ;Chen XD;Guo Y;Guo YF;Zhang L;Liu XG;Yan H;Pan F;Zhang ZX;Peng YM;Zhou Q;He LN;Zhu XZ;Cheng J;Liu YZ;Papasian CJ;Deng HW
在高加索人中，一些研究已经确定了一些与人类身高变异相关的常见变异。然而，在中国人中并没有进行过此类研究。中国是世界上人口最多的国家，其遗传背景与高加索人明显不同。为了确定中国人身高的常见基因或种族特异性基因，进行了一项初步的全基因组关联研究（GWAS）以及后续的验证研究。我们初步的GWAS研究发现，一组13个连续的单核苷酸多态性（SNP），跨越约150kb的区域，包含两个相邻基因，锌指蛋白（ZNP）510和ZNP782，与身高关联的信号很强，P值范围从9.71×10⁻⁵到3.11×10⁻⁶。经过多重检验的错误发现率校正后，13个SNP中有9个仍然显著（错误发现率q = 0.036 - 0.046）。在另外2953名无亲缘关系的中国南方人中进行的后续验证研究证实了rs10816533与身高的关联（P = 0.029）。所有13个SNP都处于持续的强连锁不平衡状态（D′>0.99），并形成了一个单一的完全单倍型模块。这13个连续SNP的次要等位基因频率存在明显的种族差异，在中国其范围从0.21到0.33，但在高加索人的dbSNP数据库中报道的低至约0.017。目前的研究结果表明，包含ZNP510和ZNP782基因的基因组区域是一个与中国人身高变异相关的种族特异性位点。
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, withPvalues ranging from 9.71 × 10−5to 3.11 × 10−6. After false discovery rate correction for multiple testing, 9 of the 13 SNPs remain significant (FDRq= 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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