瘦体重和初潮年龄是与人类健康密切相关的两个复杂性状.本文采用高功效的双变量全基因组关联方法对以上2个性状的多效基因进行了研究.采用Genome-Wide Human SNP Array6.0芯片,对研究样本(801名中国女性)和验证样本(1692名白人女性)的909622SNP进行基因分型,然后对四肢瘦体重和初潮年龄进行全基因组关联分析.研究发现,一个SNP rs3027009在研究样本中P=7.26×10-6,在验证样本也达到了P<0.01的显著水平.此SNP的上游存在对瘦体重和初潮年龄具有重要影响的Duffy抗原趋化因子受体基因.研究结果提示,DARC基因可能是以上2个性状的多效基因.
Lean body mass （LBM） and age at menarche （AAM） are two important complex traits for human health. The aim of this study was to identify pleiotropic genes for both traits using a powerful bivariate genome-wide association study （GWAS）. Two stud- ies, a discovery study and a replication study, were performed. In the discovery study, 909622 single nucleotide polymor- phisms （SNPs） were genotyped in 801 unrelated female Han Chinese subjects using the Affymetrix human genome-wide SNP array 6.0 platform. Then, a bivariate GWAS was performed to identify the SNPs that may be important for LBM and AAM. In the replication study, significant findings from the discovery study were validated in 1692 unrelated Caucasian female subjects One SNP rs3027009 that was bivafiately associated with left arm lean mass and AAM in the discovery samples （P=7.26x10-6） and in the replication samples （P=0.005） was identified. The SNP is located at the upstream of DARC （Duffy antigen receptor for chemokines） gene, suggesting that DARC may play an important role in regulating the metabolisms of both LBM and AAM.
