腰臀比性状的全基因组通路关联分析研究

目的:通过对欧洲裔美国人群腰臀比性状进行全基因组通路关联分析研究，以期寻找与腰臀比性状相关的信号通路。方法:以700例腹型肥胖患者（病例组）和358例正常人群（对照组）为研究对象，利用改良的基因富集分析法（GenGen软件）在全基因组大约550 000个SNP位点，1 347条通路/基因集合中对腰臀比性状进行全基因组通路关联分析。结果:腰臀比二分类变量（病例/对照）分析结果显示，65条通路/基因集合达到显著水平（empirical P<0.05），其中rasPathway（empirical P=0.003，FDR=0.238）最为显著，该通路相关基因也包含于ceramidePathway（empirical P=0.004，FDR=0.196）和hcmvPathway（empirical P=0.005，FDR=0.203）信号通路中。结论:Ras信号通路可能与欧洲裔中美国人群的腰臀比性状相关。

A genome wide pathway association study of waist-to-hip ratio

Objective: To explore the signaling pathways associated with WHR (waist to hip ratio), and to conduct case/control pathway-based genome wide association study in a European American cohort. Methods: Comprising 700 patients with abdominal obesity and 358 matched healthy controls, pathway-based genome wide association study in WHR was carried out by the modified Gene Set Enrichment Alogrithm (GenGen software) in 550 000 single nucleotide polymorphisms (SNPs) and a total of 1 347 pathways. Results: Sixty-five pathways manifested a significant level of empirical P< 0.05, and the most significant pathway was rasPathway（empirical P=0.003, FDR=0.238）. Genes in the rasPathway were also identified by ceramidePathway (empirical P=0.004, FDR=0.196) and hcmvPathway (empirical P=0.005,FDR=0.203). Conclusion: The results indicate that the rasPathway may affect the WHR of European ancestry Americans.