title: Single-nucleotide polymorphisms in SMAD3 are associated with chronic obstructive pulmonary disease.
abstract: The aim of this study was to determine the frequencies of single-nucleotide polymorphisms (SNPs) in the Smad3 gene in the Chinese population and their possible association with chronic obstructive pulmonary disease (COPD). The frequency distribution of nine SNPs in the introns of the Smad3 gene was determined in both the COPD patients and control groups by the TaqMan polymerase chain reaction method using a minor groove binder probe. The genotype distribution of the rs28683050 polymorphism in control subjects was as follows: CC, 67.6%; CT, 27.0% and TT, 5.4%; and in COPD patients was as follows: CC, 47.0%; CT, 38.8% and TT, 14.2%. Therefore, a significant difference in allelic and genotypic frequencies between the COPD patients and control subjects is observed. Their genotypic distribution was not significantly different from that predicted by Hardy-Weinberg's equilibrium. The frequency of the TT genotype in the COPD patients was significantly higher than that in controls (14.2% versus 5.4%, odds ratio [OR] = 3.762, 95% confidence interval: 1.650-8.581, P = 0.002), and the frequency of the T allele in the COPD patients was significantly higher than that in controls (81.1% versus 66.4%, OR = 1.774, 95% confidence interval: 1.354-2.324, P = 0.001). These data show that the rs28683050 polymorphism of the Smad3 gene may be associated with COPD.
authors.affiliation: Division of Pulmonary Disease, State Key Laboratory of Biotherapy, Chengdu, Sichuan 610041, People's Republic of China.
authors.forename: Ting
authors.initials: T
authors.lastname: Yang
authors.forename: Binwu
authors.initials: B
authors.lastname: Ying
authors.forename: Xingbo
authors.initials: X
authors.lastname: Song
authors.forename: Sizhong
authors.initials: S
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Fan
authors.forename: Dan
authors.initials: D
authors.lastname: Xu
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.forename: Daishun
authors.initials: D
authors.lastname: Liu
authors.forename: Fuqiang
authors.initials: F
authors.lastname: Wen
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D051900:Smad3 Protein / Q000235:genetics*; D012907:Smoking / Q000235:genetics
chemical_list: C497790:SMAD3 protein, human; D051900:Smad3 Protein