Title | Association of ADAM33 gene polymorphisms with COPD in the Mongolian population of China |
Authors | Tan, Jie Liu, Ai Ping Sun, Chao Bai, Yun Fei Lv, Fuzhen |
Affiliation | Harbin Med Univ, Dept Resp, Affiliated Hosp 2, Harbin 150081, Peoples R China. Peking Univ, Dept Social Med & Hlth Educ, Sch Publ Hlth, Beijing 100191, Peoples R China. Inner Mongolia Med Coll, Affiliated Hosp 2, Hohhot 010050, Inner Mongolia, Peoples R China. Inner Mongolia Med Coll, Affiliated Hosp, Dept Otolaryngol, Hohhot 010050, Inner Mongolia, Peoples R China. |
Keywords | A disintegrin and metalloproteinase 33 chronic obstructive pulmonary disease Mongolian population of China single nucleotide polymorphisms SINGLE-NUCLEOTIDE POLYMORPHISMS OBSTRUCTIVE PULMONARY-DISEASE LUNG-FUNCTION DECLINE BRONCHIAL HYPERRESPONSIVENESS ASTHMA RISK HISTORY T1 |
Issue Date | 2014 |
Publisher | 人类生物学纪事 |
Citation | ANNALS OF HUMAN BIOLOGY.2014,41,(1),9-14. |
Abstract | Background: Chronic obstructive pulmonary disease (COPD) is a respiratory disorder with increasing prevalence and mortality, influenced by both environmental and genetic factors. ADAM33 gene has been found to be associated with asthma, declined lung function and COPD. Aim: The aim of this study was to find out if SNPs in ADAM33 (V4, T+1, T1, T2, S1, S2, Q-1 and F+1) play any role in genetic susceptibility to COPD in the Mongolian population of China. Subjects and methods: Two hundred and fifteen Mongolian COPD patients and 223 Mongolian healthy individuals were recruited for the study. Eight polymorphic loci (V4, T+1, T2, T1, S2, S1, Q-1, and F+1) of ADAM33 were selected for genotyping. Genotyping was carried out using the Polymerase Chain Reaction and Restriction Fragment Length polymorphism (PCR-RFLP) method. Results: Seven SNPs in ADAM33 were associated with COPD (T+1, p = 0.014; T2, p = 0.018; T1, p = 0.048; S2, p = 0.003; S1, p = 0.000; Q-1, p = 0.000 and F+1, p = 0.000), even after Bonferroni correction, SNPs S2, S1, Q-1 and F+1 remained significant. Haplotype analysis showed that the frequencies of haplotype H1 (GGAGGGT), H5 (GGAGGGC) and H10 (GGGGAGT) were significantly higher in the COPD group than in the control group (p = 0.002, 0.031 and 0.009, respectively). In contrast, the haplotype H11 (GGACAGC) was more common in the control group than in the case group (p = 0.015). Conclusions: Seven SNPs in ADAM33 were associated with COPD in the Mongolian population of China. |
URI | http://hdl.handle.net/20.500.11897/218922 |
ISSN | 0301-4460 |
DOI | 10.3109/03014460.2013.821165 |
Indexed | SCI(E) SSCI |
Appears in Collections: | 公共卫生学院 |