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Type: Journal article
Title: The transforming growth factor-β1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD)
Other Titles: The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD)
Author: Celedón, J.
Lange, C.
Raby, B.
Litonjua, A.
Palmer, L.
DeMeo, D.
Reilly, J.
Kwiatkowski, D.
Chapman, H.
Laird, N.
Sylvia, J.
Hernandez, M.
Speizer, F.
Weiss, S.
Silverman, E.
Citation: Human Molecular Genetics, 2004; 13(15):1649-1656
Publisher: Oxford University Press (OUP)
Issue Date: 2004
ISSN: 0964-6906
Statement of
Juan C. Celedón, Christoph Lange, Benjamin A. Raby, Augusto A. Litonjua, Lyle J. Palmer, Dawn L. DeMeo, John J. Reilly, David J. Kwiatkowski, Harold A. Chapman, Nan Laird, Jody S. Sylvia, Melvin Hernandez, Frank E. Speizer, Scott T. Weiss and Edwin K. Silverman
Abstract: Although cigarette smoking is the primary environmental risk factor, genetic risk factors likely influence the development of chronic obstructive pulmonary disease (COPD). Linkage analysis between short-tandem repeat markers on chromosome 19 and COPD phenotypes was followed by association analysis of single nucleotide polymorphisms in a gene on chromosome 19q [transforming growth factor-beta1 (TGFB1)] and COPD phenotypes in a family-based sample and a case-control study (cases with severe COPD and control subjects with significant history of smoking but no COPD). Stratification by smoking status substantially improved the evidence of linkage to chromosome 19q for COPD phenotypes. Among former and current smokers in the Boston Early-Onset COPD Study, there was significant evidence of linkage between chromosome 19q and pre-bronchodilator (pre-BD) FEV(1) (LOD=3.30) and suggestive evidence of linkage between chromosome 19q and other COPD phenotypes. In these families, a SNP in the promoter region of TGFB1 (rs2241712) and two SNPs in the 3' genomic region of TGFB1 (rs2241718 and rs6957) were significantly associated with pre- and post-BD FEV(1) (P<0.05). Among smokers in the COPD cases and control subjects, two SNPs in the promoter region of TGFB1 (rs2241712 and rs1800469) and one SNP in exon 1 of TGFB1 (rs1982073) were significantly associated with COPD (P</=0.02 in all cases). Chromosome 19q likely contains a genetic locus (or loci) that influences COPD through an interaction with cigarette smoking. We hypothesize that genetic variants in or near the TGFB1 gene influence the pathogenesis of COPD among cigarette smokers.
Keywords: Chromosomes, Human, Pair 19
Pulmonary Disease, Chronic Obstructive
Transforming Growth Factor beta
Genetic Markers
Case-Control Studies
Chromosome Mapping
Transforming Growth Factor beta1
Genetic Predisposition to Disease
Rights: © Oxford University Press 2004; all rights reserved
DOI: 10.1093/hmg/ddh171
Grant ID: NFC
Appears in Collections:Aurora harvest 2
Translational Health Science publications

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