高原肺水肿易感基因多态性的全基因组关联分析  

Genome-wide association study of high altitude pulmonary edema

作　　者：段瑞峰[1] 刘卫[1] 龙超良[1] 张雁芳[1] 崔文玉[2] 王引虎[3] 汪海[1] 

机构地区：[1]军事医学科学院卫生学环境医学研究所全军军事环境医学重点实验室,北京100850 [2]北京赛德维康医药研究院,北京100039 [3]解放军第18医院高原病研究所,新疆叶城844900

出　　处：《中国应用生理学杂志》2014年第2期101-105,I0003,共6页Chinese Journal of Applied Physiology

基　　金：军队特需药品保密专项(2011ZXJ09105-05B);国家973项目(2012CB518206);国家自然科学基金资助项目(81171870)

摘　　要：目的:高原肺水肿严重影响高原人群的健康。筛选高原肺水肿易感基因以用于高原肺水肿易感者的评估及防护。方法:利用Affymetrix SNP Array 6.0芯片对23例高原肺水肿患者和17个健康对照进行全基因组SNP分型,利用PLINK软件进行了全基因组关联分析,利用GO和Pathway软件进行分析及作图。结果:全基因组关联分析获得39个相对显著的SNPs位点(P<10-4)。通过对这些SNP位点附近27个基因的GO和Pathway富集分析,发现这些基因主要参与细胞增殖调控过程、氮代谢过程和G蛋白耦联受体蛋白信号转导通路等。结论:本文发现的多态性位点及相关基因可能与高原肺水肿易感性相关。Objective： High altitue pulmonary edema（HAPE） impacts seriously people＇s health at high altitude. Screening of susceptibil- ity genes for HAPE will be used for the evaluation and protection of susceptible people. Methods： We performed a genome-wide association study （GWAS） using Affymetrix SNP array 6.0 in 23 HAPE patients and 17 healthy controls. GO and Pathway analysis softwares were used to analyze and draw gene network. Results： Thirty-nine SNPs were found to be significantly different between case and control groups （ P 〈 10^-4）. GO and Pathway analysis of 27 genes around the 39 SNPs indicated that these genes mainly participate in the regulating of cell prolifera tion, regulation of nitrogen compound metabolic process and G-protein coupled receptor protein signaling pathway and so on. C, onchtsion： It suggests that these SNPs and genes found in this study may be associated with the susceptibility of HAPE.

关 键 词：高原肺水肿 易感性 SNP6 0芯片 关联分析 单核苷酸多态性 

分 类 号：Q337[生物学—遗传学]