Genome-wide association study identified CNP12587 region underlying height variation in Chinese females.
Genome-wide association study identified CNP12587 region underlying height variation in Chinese females.
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全基因组关联研究确定了中国女性身高变异的 CNP12587 区域
DOI：
10.1371/journal.pone.0044292
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Deng HW
中科院分区：
文献类型：
--
作者：
Zhang YP;Deng FY;Yang TL;Zhang F;Chen XD;Shen H;Zhu XZ;Tian Q;Deng HW
简介身高是一种高度可遗传的特征，被认为是影响健康的重要因素。在识别导致身高变化的遗传因素方面取得的成功有限。我们的目标是通过对中国人拷贝数变异(CNV)的全基因组关联研究来识别与成人身高相关的序列变异。方法对1625例无血缘关系的中国成年人和性别特异性亚组的身高变异分别进行全基因组CNV关联分析。身高是用直尺测量的。用Affymetrix SNP6.0基因分型平台检测拷贝数多态(CNPs)。我们构建了一个包含1009个中国人CNP的基因组图谱，并进行了全基因组范围的CNP与身高的关联研究。结果在整个人群中检测到10个显著的身高关联信号(p<；0.05)，中国女性和男性分别检测到9个和11个显著的关联信号。即使在严格的Bonferroni校正后(p = 0.048)，也发现拷贝数多态(CNP12587，chr18：54081842-54086942，p-−2.41×10- = 4)与中国女性身高变异显著相关。验证性实时聚合酶链式反应实验进一步支持了CNV的验证。与携带两个CNP拷贝的女性受试者相比，携带三个拷贝的女性的身高平均下降了8.1%。在该区域发现了一个重要的候选基因--泛素蛋白连接酶NEDD4-like(NEDD4L)，它通过与骨形成调节因子结合而在骨代谢中发挥重要作用。结论我们的研究结果提示了中国人身高变异的重要遗传变异。
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.
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影响因子：
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作者：
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