期刊
CLINICAL BIOCHEMISTRY
卷 43, 期 1-2, 页码 43-50出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.clinbiochem.2009.08.026
关键词
SERPINA1 ADRB2; Chronic Obstructive Pulmonary Disease; Disseminated Bronchiectasis; haplotypes; SNPs
资金
- Athens University Research Grant [70/4/1661]
- Glaxo-Smith-Kline [1013]
objectives: The aim of our Study was to determine the genetic risk conferred by SNPs in the SERPINA1 and ADRB2 for development of Chronic Obstructive Pulmonary Disease (COPD) and Disseminated Bronchiectasis (DB), while at the same time validating the NanoChip technology. This was a case-control study consisting of 112 COPD, 62 DB patients and 2 control groups (106 smokers without COPD: healthy smokers control group and 205 general population subjects). Design and methods: The novel methodology of the Nanogen NanoChip (R) 400 (NC400 Nanogen www.nanogen.com) was employed for genotyping five mutations/SNPs in the SERPINA1 and 2 in the ADRB2 gene. Results: For the SERPINA1 gene a statistically significant difference in the frequency was found for heterozygotes for p.V213A between DB patients and healthy smokers (44.1% vs. 26.4% respectively; p=0.035) and for heterozygotes for c.1237G > A between DB patients and general population subjects (10.2% vs. 25.4% respectively; p=0.023). There was a clustering of ADRB2 p.Gly16 homozygotes in patients with severe COPD (24/44, 54.5% with FEV1 values < 35% of predicted). Conclusions: The SERPINA1 p.V213A polymorphism was found associated with DB risk while the ADRB2 p.G16R is a risk factor for severe COPD in smokers. (c) 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据