Gene-based copy number variation study reveals a microdeletion at 12q24 that influences height in the Korean population.
Gene-based copy number variation study reveals a microdeletion at 12q24 that influences height in the Korean population.
复制标题
基于基因的拷贝数变异研究揭示了 12q24 的微缺失会影响韩国人群的身高。
DOI：
10.1016/j.ygeno.2012.11.002
复制
发表时间：
2013
期刊：
影响因子：
4.4
通讯作者：
Bong
中科院分区：
文献类型：
--
作者：
Y. Kim;Sanghoon Moon;M. Y. Hwang;Dong;J. Oh;Y. J. Kim;B. Han;Jong;Bong
树高是一个典型的高遗传力多基因性状（h2=0.8）。最近的全基因组关联研究揭示了许多与人类身高相关的独立基因座。此外，尽管许多研究报道了拷贝数变异（CNV）与复杂疾病之间的关联，但很少有人探讨CNV与身高之间的关系。最近的研究报道，单核苷酸多态性（SNPs）与常见的CNVs高度相关，这表明有必要调查CNVs，以确定其他遗传因素影响遗传性状，如身高。这项研究验证了一个假设，即在已知影响身高的GWAS基因附近存在与身高相关的CNV区域（CNVRs）。我们使用Illumina HumanOmni 1-Quad BeadChip从3667个基于人群的队列样本中鉴定出包含>1%拷贝数缺失频率的区域。在已鉴定的CNVRs中，我们选择了15个候选区域，这些区域位于283个先前报道的基因的1 Mb内。为了评估这些CNVRs对身高的影响，对来自370个较高个体（较高10%）的病例组和1828个个体（较低50%）的对照组的样本进行统计分析。我们发现，在染色体位置12q24.33处，GPR 133下游约171.6kb处，新鉴定的17.7kb缺失与身高显著相关;使用定量PCR验证了这一发现。这些结果表明，CNVs在确定身高方面具有潜在的重要性，并可能导致人群的身高变异。
Height is a classic polygenic trait with high heritability (h2=0.8). Recent genome-wide association studies have revealed many independent loci associated with human height. In addition, although many studies have reported an association between copy number variation (CNV) and complex diseases, few have explored the relationship between CNV and height. Recent studies reported that single nucleotide polymorphisms (SNPs) are highly correlated with common CNVs, suggesting that it is warranted to survey CNVs to identify additional genetic factors affecting heritable traits such as height. This study tested the hypothesis that there would be CNV regions (CNVRs) associated with height nearby genes from the GWASs known to affect height. We identified regions containing >1% copy number deletion frequency from 3667 population-based cohort samples using the Illumina HumanOmni1-Quad BeadChip. Among the identified CNVRs, we selected 15 candidate regions that were located within 1Mb of 283 previously reported genes. To assess the effect of these CNVRs on height, statistical analyses were conducted with samples from a case group of 370 taller (upper 10%) individuals and a control group of 1828 individuals (lower 50%). We found that a newly identified 17.7kb deletion at chromosomal position 12q24.33, approximately 171.6kb downstream of GPR133, significantly correlated with height; this finding was validated using quantitative PCR. These results suggest that CNVs are potentially important in determining height and may contribute to height variation in human populations.
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
影响因子：
5.9
作者：
Li, Xi;Tan, Lijun;Deng, Hongwen
通讯作者：
Deng, Hongwen
影响因子：
9.8
作者：
Dauber, Andrew;Yu, Yongguo;Hirschhorn, Joel N.
通讯作者：
Hirschhorn, Joel N.