A genome wide association study between copy number variation (CNV) and human height in Chinese population
A genome wide association study between copy number variation (CNV) and human height in Chinese population
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中国人群拷贝数变异（CNV）与人体身高之间的全基因组关联研究
DOI：
10.1016/s1673-8527(09)60095-3
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发表时间：
2010-12-01
影响因子：
5.9
通讯作者：
Deng, Hongwen
中科院分区：
文献类型：
--
作者：
Li, Xi;Tan, Lijun;Deng, Hongwen
拷贝数变异（Copy number variation， CNV）是一种遗传变异，在表型变异和疾病易感性中具有重要作用。为了寻找人类身高变异背后的遗传变异，我们使用Affymetrix 500K阵列对618名中国无血缘关系受试者进行了人类身高全基因组CNV关联研究。在调整了年龄和性别后，我们发现6p21.3、8p23.3-23.2、9p23和16p12.1四个位点的CNVs与人类身高相关（p值分别为0.013、0.011、0.024、0.049）。然而，经过多次测试校正，没有一个与人类身高有关。我们观察到8p23.3-23.2拷贝数增加（大于2个拷贝）与较低的身高相关（正常拷贝数vs拷贝数增加：161.2 cm vs 153.7 cm, p = 0.011），占身高变异的0.9%。6p21.3时拷贝数缺失（少于2份）与身高降低0.8%相关（拷贝数缺失vs.正常拷贝数：154.5 cm vs. 161.1 cm, p = 0.013）。由于cnv中8p23.3-23.2和6p21.3位点上没有重要的影响身高的基因，这两个cnv可能会引起邻近重要候选基因的结构重排，从而调控身高的变化。我们的研究结果扩大了我们对身高变化的遗传因素和人类身高的生物调节的认识。
Copy number variation (CNV) is a type of genetic variation which may have important roles in phenotypic variability and disease susceptibility. To hunt for genetic variants underlying human height variation, we performed a genome wide CNV association study for human height in 618 Chinese unrelated subjects using Affymetrix 500K array set. After adjusting for age and sex, we found that four CNVs at 6p21.3, 8p23.3-23.2, 9p23 and 16p12.1 were associated with human height (with borderline significant p value: 0.013, 0.011, 0.024, 0.049; respectively). However, after multiple tests correction, none of them was associated with human height. We observed that the gain of copy number (more than 2 copies) at 8p23.3-23.2 was associated with lower height (normal copy number vs. gain of copy number: 161.2 cm vs. 153.7 cm, p = 0.011), which accounted for 0.9% of height variation. Loss of copy number (less than 2 copies) at 6p21.3 was associated with 0.8% lower height (loss of copy number vs. normal copy number: 154.5 cm vs. 161.1 cm, p = 0.013). Since no important genes influencing height located in CNVs at loci of 8p23.3-23.2 and 6p21.3, the two CNVs may cause the structural rearrangements of neighbored important candidate genes, thus regulates the variation of height. Our results expand our knowledge of the genetic factors underlying height variation and the biological regulation of human height.