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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:

24卷

期数:

2018年02期

页码:

135-137,141

栏目:

出版日期:

2018-03-20

文章信息/Info

Title:

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

作者:

张苗苗₁; StruanGrant₂; HakonHakonarson₂; R.ArlenPrice₃; 张愿₁; 李卫东₁; 焦红肖₄

1.天津医科大学遗传学系，天津 300070；2.美国费城儿童医院应用基因组学中心，费城 PA 19104；3.美国宾夕法尼亚大学医学院精神医学系，费城 PA 19104；4.天津医科大学基础医学研究中心，天津 300070

Author(s):

ZHANG Miao-miao₁;  Struan Grant₂;  Hakon Hakonarson₂;  R.Arlen Price₃;  ZHANG Yuan₁;  LI Wei-dong₁;  JIAO Hong-xiao₄

1.Department of Genetics, Tianjin Medical University, Tianjin 300070,China; 2.Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia PA 19104, USA; 3.Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia PA 19104, USA; 4.Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin 300070, China

关键词:

腰臀比; 全基因组关联分析; 通路关联分析; 腹型肥胖; 欧洲裔

Keywords:

waist to hip ratio;  genome wide association study;  pathway associations analysis;  abdominal obesity;  European ancestry

分类号:

R394.5

DOI:

-

文献标志码:

A

摘要:

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。

Abstract:

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.

参考文献/References:

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备注/Memo

备注/Memo:

文章编号 １００６－８１４７（２０18）０2-0135-03
基金项目 国家重点研发计划基金资助项目（2017YFC1001900）；天津医科大学科研基金（2016KYZQ08）
作者简介 张苗苗（1993-），女，硕士在读，研究方向：病理学与病理生理学；通信作者：李卫东，E-mail: liweidong98@tijmu.edu.cn；焦红肖，E-mail：jiaohongxiao@163.com。

常用功能

更新日期/Last Update: 2018-03-20