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浙江大学学报（农业与生命科学版）
浙江大学学报(农业与生命科学版)  2014, Vol. 40 Issue (4): 431-439    DOI: 10.3785/j.issn.1008-9209.2014.04.271
论文     
全基因组关联分析SGRQ遗传变异与吸烟的关系(英文)
郝心颖1， 朱军1,2,3*
（1.浙江大学数学系，杭州 310058；2.浙江大学农业与生物技术学院农学系，杭州 310058；3.浙江大学空气污染与健康研究中心，杭州 310058）
Genome-wide association studies for identifying genetic architecture of SGRQ in smoking population
Hao Xinying1, Zhu Jun1,2,3*
(1. Department of Mathematics, Zhejiang University, Hangzhou 310058, China; 2. Department of Agronomy, College of Agriculture and Biotechnology, Zhejiang University, Hangzhou 310058, China; 3. Research Center for Air Pollution and Health, Zhejiang University, Hangzhou 310058, China)
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摘要： 慢性阻塞性肺病作为人类第四大疾病，它的遗传倾向和性别影响一直是热门话题，而吸烟被认为是肺疾病的主要危险因素。本文基于从dbGaP下载的数据，运用我们提出的混合线性模型方法和关联分析软件QTLNetwork，分析了慢性阻塞性肺病复杂性状的遗传变异。运用全基因组关联条件定位的方法，检测到与吸烟无关的8个基因(CSMD1，CAPN8，TNS1，LOC643037，LRFN2，DGKH，FOXL1，DNAH11)、被吸烟诱导的6个基因(CSMD1，CNTNAP5，DGKH，MACROD2，CNIH3，DNAH11)和被吸烟抑制的5个基因(GSDMC，DGKH，LINC00426，METTL4，BMP2)及1对上位基因(CSMD1，LOC643037)。其中，具有显著的高遗传性的基因有TNS1，DGKH，MACROD2，CNIH3，LINC00426,METTL4和GSDMC。讨论了吸烟及性别对SGRQ疾病基因表达的影响。
Abstract: The dualism of genetic predisposition and gender influences has long been a hot topic in the development of chronic obstructive pulmonary disease (COPD), and smoking is considered a primary risk factor for this lung disease. This paper aimed to detect susceptibility genes for COPD with the data downloaded from dbGaP. A linear mixed model was employed to conduct association-mapping QTSs (quantitative trait single-nucleotide polymorphisms) because of its effectiveness in unbiased estimation of random effects with unbalanced data and in controlling population stratification. The primary focus of the study is to identify genetic risk factors that determine susceptibility for COPD and COPD-related phenotypes with the goal of providing insight into clinically relevant COPD subtypes. By comparing the conditional model excluding the cofactor smoking with the full model, we can detect related QTSs, which will reveal the gene expression on COPD caused or suppressed by smoking. As a result, there are significant genes with high heritability: TNS1 and DGKH were not caused by smoking, MACROD2 and CNIH3 were due to smoking, and LINC00426, METTL4 and GSDMC were suppressed by smoking.
出版日期: 2014-07-20
CLC:  Q 811.4  
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引用本文:

郝心颖， 朱军. 全基因组关联分析SGRQ遗传变异与吸烟的关系(英文)[J]. 浙江大学学报(农业与生命科学版), 2014, 40(4): 431-439.

Hao Xinying, Zhu Jun. Genome-wide association studies for identifying genetic architecture of SGRQ in smoking population. Journal of Zhejiang University (Agriculture and Life Sciences), 2014, 40(4): 431-439.

链接本文:

http://www.zjujournals.com/agr/CN/10.3785/j.issn.1008-9209.2014.04.271    或    http://www.zjujournals.com/agr/CN/Y2014/V40/I4/431

[1] 张斌， 朱军. 吸烟和性别对身体质量指数遗传结构的影响(英文)[J]. 浙江大学学报(农业与生命科学版), 2014, 40(4): 421-430.
[2] 许昌巍， 朱军. 吸烟对控制FEV1/FVC比率的基因上位性及性别互作效应的影响(英文)[J]. 浙江大学学报(农业与生命科学版), 2014, 40(4): 413-420.