澳大利亚双胞胎家庭身高和体重指数的全基因组关联研究。
Genome-wide association study of height and body mass index in Australian twin families.
作者信息
Liu Jimmy Z, Medland Sarah E, Wright Margaret J, Henders Anjali K, Heath Andrew C, Madden Pamela A F, Duncan Alexis, Montgomery Grant W, Martin Nicholas G, McRae Allan F
机构信息
Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.
出版信息
Twin Res Hum Genet. 2010 Apr;13(2):179-93. doi: 10.1375/twin.13.2.179.
Human height and body mass index are influenced by a large number of genes, each with small effects, along with environment. To identify common genetic variants associated with these traits, we performed genome-wide association studies in 11,536 individuals composed of Australian twins, family members, and unrelated individuals at approximately 550,000 genotyped SNPs. We identified a single genome-wide significant variant for height (P value=1.06x10(-9)) located in HHIP, a well-replicated height-associated gene. Suggestive levels of association were found for other known genes associated with height (P values<1x10(-6)): ADAMTSL3, EFEMP1, GPR126, and HMGA2; and BMI (P values<1x10(-4)): FTO and MC4R. Together, these variants explain less than 2% of total phenotypic variation for height and 0.5% for BMI.
人类身高和体重指数受大量基因（每个基因的影响都较小）以及环境的影响。为了确定与这些性状相关的常见基因变异，我们对11536名个体进行了全基因组关联研究，这些个体包括澳大利亚双胞胎、家庭成员以及无血缘关系的个体，对约55万个单核苷酸多态性（SNP）进行了基因分型。我们在HHIP基因中发现了一个全基因组显著的身高变异位点（P值 = 1.06×10⁻⁹），HHIP是一个多次被证实与身高相关的基因。还发现了与身高相关的其他已知基因（P值 < 1×10⁻⁶）：ADAMTSL3、EFEMP1、GPR126和HMGA2；以及与体重指数相关的基因（P值 < 1×10⁻⁴）：FTO和MC4R，这些基因显示出提示性的关联水平。这些变异共同解释的身高表型总变异不到2%，体重指数表型总变异不到0.5%。
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