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

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