期刊
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
卷 33, 期 1, 页码 71-78出版社
AMER THORACIC SOC
DOI: 10.1165/rcmb.2005-0073OC
关键词
association studies; case-control studies; emphysema; genetics; single nucleotide polymorphism
资金
- NHLBI NIH HHS [N01HR76106, N01HR76102, HL61575, N01HR76113, N01HR76111, N01HR76114, N01HR76118, N01HR76103, N01HR76110, N01HR76101, N01HR76116, N01HR76119, N01HR76104, N01HR76112, T32-HL07427, N01HR76109, N01HR76108, N01HR76107, N01HR76115, HL075478, N01HR76105, HL71393] Funding Source: Medline
Case-control studies have successfully identified many significant genetic associations for complex diseases, but lack of replication has been a criticism of case-control genetic association studies in general. We selected 12 candidate genes with reported associations to chronic obstructive pulmonary disease (COPD) and genotyped 29 polymorphisms in a family-based study and in a case-control study. In the Boston Early-Onset COPD Study families, significant associations with quantitative and/or qualitative COPD-related phenotypes were found for the tumor necrosis factor (TNF)-alpha -308G > A promoter polymorphism (P < 0.02), a coding variant in surfactant protein B (SFTPB Thr131Ile) (P = 0.03), and the (GT)(31) allele of the heme oxygenase (HMOX1) promoter short tandem repeat (P = 0.02). In the case-control study, the SFTPB Thr131Ile polymorphism was associated with COPID, but only in the presence of a gene-by-environment interaction term (P = 0.01 for both main effect and interaction). The 30-repeat, but not the 31-repeat, allele of HMOX1 was associated (P = 0.04). The TNF -308G > A polymorphism was not significant. In addition, the microsomal epoxide hydrolase fast allele (EPHX1 His139Arg) was significantly associated in the casecontrol study (P = 0.03). Although some evidence for replication was found for SFTPB and HMOX1, none of the previously published COPD genetic associations was convincingly replicated across both study designs.
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