Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học 'Respiratory Research cung cấp cho các bạn kiến thức về ngành y đề tài: " The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. | Respiratory Research BioMed Central Research The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency Alice M Wood1 Matthew J Simmonds1 Darren L Bayley2 Paul R Newby1 Stephen C Gough1 and Robert A Stockley 2 Open Access Address 1Division of Medical Sciences The Medical School University of Birmingham Birmingham B15 2TT UK and 2Lung Investigation Unit University Hospital Birmingham Birmingham B15 2TH UK Email Alice M Wood - Matthew J Simmonds - Darren L Bayley - bayleydl@ Paul R Newby - Stephen C Gough - Robert A Stockley - Corresponding author Published II July 2008 Received 7 May 2008 Respiratory Research 2008 9 52 doi 1465-9921 -9-52 Accepted 11 July 2008 This article is available from http content 9 1 52 2008 Wood et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Genetic variation may underlie phenotypic variation in chronic obstructive pulmonary disease COPD in subjects with and without alpha 1 antitrypsin deficiency AATD . Genotype specific sub-phenotypes are likely and may underlie the poor replication of previous genetic studies. This study investigated subjects with AATD to determine the relationship between specific phenotypes and TNFa polymorphisms. Methods 424 unrelated subjects of the PiZZ genotype were assessed for history of chronic bronchitis impairment of lung function and radiological presence of emphysema and bronchiectasis. A subset of subjects with 3 years consecutive lung function data was assessed for decline of lung function. Four single nucleotide polymorphisms SNPs tagging TNFa were genotyped using
