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首页> 外文期刊>PLoS Genetics >Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size
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Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size

机译：人类成年身材的全基因组扫描的荟萃分析确定了新的基因座和与骨架尺寸的关联

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Recent genome-wide (GW) scans have identified several independent loci affecting human stature, but their contribution through the different skeletal components of height is still poorly understood. We carried out a genome-wide scan in 12,611 participants, followed by replication in an additional 7,187 individuals, and identified 17 genomic regions with GW-significant association with height. Of these, two are entirely novel (rs11809207 in CATSPER4, combined P-value?=?6.1×10?8 and rs910316 in TMED10, P-value?=?1.4×10?7) and two had previously been described with weak statistical support (rs10472828 in NPR3, P-value?=?3×10?7 and rs849141 in JAZF1, P-value?=?3.2×10?11). One locus (rs1182188 at GNA12) identifies the first height eQTL. We also assessed the contribution of height loci to the upper- (trunk) and lower-body (hip axis and femur) skeletal components of height. We find evidence for several loci associated with trunk length (including rs6570507 in GPR126, P-value?=?4×10?5 and rs6817306 in LCORL, P-value?=?4×10?4), hip axis length (including rs6830062 at LCORL, P-value?=?4.8×10?4 and rs4911494 at UQCC, P-value?=?1.9×10?4), and femur length (including rs710841 at PRKG2, P-value?=?2.4×10?5 and rs10946808 at HIST1H1D, P-value?=?6.4×10?6). Finally, we used conditional analyses to explore a possible differential contribution of the height loci to these different skeletal size measurements. In addition to validating four novel loci controlling adult stature, our study represents the first effort to assess the contribution of genetic loci to three skeletal components of height. Further statistical tests in larger numbers of individuals will be required to verify if the height loci affect height preferentially through these subcomponents of height.
机译：最近的全基因组扫描（GW）扫描已经确定了几个独立的基因座，这些基因座影响着人类的身材，但是它们通过身高的不同骨骼成分的贡献仍然知之甚少。我们在12,611名参与者中进行了全基因组扫描，然后在另外7,187名个体中进行了复制，并确定了17个基因组区域与GW高度相关。其中有两个是完全新颖的（CATSPER4中的rs11809207，组合的P值≥6.1×10≤8，而TMS10中的rs910316的组合，P值≥1.4×10≤7），并且先前描述的两个统计量较弱支持（NPR3中的rs10472828，P值？=？3×10？7和JAZF1中的rs849141，P值？=？3.2×10？11）。一个基因座（位于GNA12的rs1182188）标识了第一高度eQTL。我们还评估了身高位点对身高的上身（躯干）和下身（髋关节轴和股骨）骨骼成分的贡献。我们发现一些与躯干长度（包括GPR126中的rs6570507，P值？=？4×10？5和rs6817306和LCORL中的rs6817306，P值？=？4×10？4）相关的多个基因座的证据LCORL处的rs6830062，UQCC处的P值？=？4.8×10？4和U49CC处的rs4911494，P值？=？1.9×10？4）和股骨长度（包括PRKG2处的rs710841，P值？=？2.4×在HIST1H1D处为10？5和rs10946808，P值？=？6.4×10？6）。最后，我们使用条件分析来探索高度位点对这些不同骨骼大小测量值的可能差异贡献。除了验证四个新的基因座控制成年身材，我们的研究代表了评估遗传基因座对身高的三个骨骼组成部分的首次努力。将需要在大量个体中进行进一步的统计检验，以验证身高位点是否优先通过身高的这些子成分影响身高。

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