Department of Epidemiology, University Medical Center Groningen, Hanzeplein 1 9700 RD, Groningen, The Netherlands.
Proc Am Thorac Soc. 2009 Dec;6(8):701-3. doi: 10.1513/pats.200907-058DP.
Genome-wide association (GWA) studies are applied to identify novel genetic variants that are associated with disease. Results of the first three GWA studies on asthma identified susceptibility genes for asthma as ORMDL3, IL1RL1, and PDE4D. The first GWA study on chronic obstructive pulmonary disease (COPD) identified two single nucleotide polymorphisms at the alpha-nicotinic acetylcholine receptor (CHRNA 3/5) locus, identified earlier as risk factor for both lung cancer and nicotine dependence, to be associated with COPD. GWA studies have been shown to be relevant study designs that brought us new insight and identified novel genetic factors for asthma and COPD, but future studies should take environmental factors into account and proceed with more in-depth studies on functionality of the identified variants and their impact on public health.
全基因组关联 (GWA) 研究被应用于识别与疾病相关的新型遗传变异。前三项哮喘 GWA 研究的结果确定了哮喘的易感基因，包括 ORMDL3、IL1RL1 和 PDE4D。第一项慢性阻塞性肺疾病 (COPD) 的 GWA 研究确定了位于α-烟碱型乙酰胆碱受体 (CHRNA 3/5) 基因座的两个单核苷酸多态性，该基因座早些时候被确定为肺癌和尼古丁依赖的风险因素，与 COPD 相关。GWA 研究已被证明是相关的研究设计，为哮喘和 COPD 提供了新的见解，并确定了新的遗传因素，但未来的研究应考虑环境因素，并对所确定的变异的功能及其对公共健康的影响进行更深入的研究。
