Common variants in the GDF5-UQCC region are associated with variation in human height
Common variants in the GDF5-UQCC region are associated with variation in human height
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DOI：
10.1038/ng.74
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发表时间：
2008-02-01
期刊：
影响因子：
30.8
通讯作者：
Mohlke, Karen L.
中科院分区：
文献类型：
--
作者：
Sanna, Serena;Jackson, Anne U.;Mohlke, Karen L.
识别影响人类身高的基因变异将增进我们对骨骼生长和发育的理解。在孟德尔综合征中，一些罕见的基因变异已令人信服且可重复地与身高相关联，并且转录因子基因HMGA2的常见变异与普通人群的身高差异有关（1）。在此，我们报告了对来自芬兰和撒丁岛的6669名个体进行的全基因组关联分析（使用基因分型和推算标记），以及对另外28801名个体进行的后续分析。我们表明，与骨关节炎相关的基因座（2）GDF5 - UQCC中的常见变异导致身高差异，估计的累加效应为0.44厘米（总体P < 10⁻¹⁵）。我们的结果表明，身高的遗传基础和骨关节炎之间可能存在联系，这可能是通过骨骼生长和发育的改变来介导的。
Identifying genetic variants that influence human height will advance our understanding of skeletal growth and development. Several rare genetic variants have been convincingly and reproducibly associated with height in mendelian syndromes, and common variants in the transcription factor gene HMGA2 are associated with variation in height in the general population(1). Here we report genome-wide association analyses, using genotyped and imputed markers, of 6,669 individuals from Finland and Sardinia, and follow-up analyses in an additional 28,801 individuals. We show that common variants in the osteoarthritis-associated locus(2) GDF5-UQCC contribute to variation in height with an estimated additive effect of 0.44 cm (overall P < 10(-15)). Our results indicate that there may be a link between the genetic basis of height and osteoarthritis, potentially mediated through alterations in bone growth and development.