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    已发表论文

    中国黎族人口慢性阻塞性肺病 (COPD) 与多基因多态性变异的关联分析

     

    Authors Ding Y, Yang D, Zhou L, Xu J, Chen Y, He P, Yao J, Chen J, Niu H, Sun P, Jin T
    Published Date July 2015 Volume 2015:10(1) Pages 1455—1463
    DOI http://dx.doi.org/10.2147/COPD.S86721
    Received 16 April 2015, Accepted 13 May 2015, Published 27 July 2015

    Approved for publication by Dr Richard Russell

    Background: It is known that the contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. Further, previous studies involving various ethnic groups have revealed associations between COPD and genetic polymorphisms in families with sequence similarity 13, member A (FAM13A ), micro-RNA 2054 (MIR2054 ), SET domain containing protein 7 (SETD7 ), ring finger protein 150 (RNF150 ), hedgehog interacting protein (HHIP ), and vascular endothelial growth factor A (VEGFA ). Our objective was to explore the association between these gene polymorphism and COPD in members of Chinese Li minority population.

    Materials and methods: The Chinese Li population case–control study was conducted to assess genetic associations with COPD risk. Seven single nucleotide polymorphisms (SNPs) located on chromosome 4, including FAM13A , MIR2054 , SETD7 , RNF150 , and HHIP , and nine SNPs in the VEGFA gene were genotyped among 234 cases and 240 controls using Sequenom Mass-ARRAY® platform. Linkage disequilibrium (LD) analysis was performed using Haploview software and the associations of the SNP frequencies with COPD were analyzed using chi-square (χ 2) tests, genetic models analysis, and haplotype analysis.
    Results: By χ 2 we found the minor allele “G” of rs17050782 was with increased COPD risk in allele model. In genetic models, we found the minor allele of rs7671167 (P =0.028 by dominant model) and rs17050782 (P =0.008 by recessive model) was associated with the increased risk of COPD disease. Likewise, an increased risk of developing COPD was associated with the “GGCGC” haplotype of VEGFA (odds ratio =1.48, 95% confidence interval =1.02–2.12, P =0.037).
    Conclusion: Our results were the first time to reveal that SNPs from FAM13A  (rs7671167), SETD7  (rs17050782), and a haplotype of VEGFA  (“GGCGC”) are potential susceptibility loci associated with increased COPD risk in Chinese Li minority population.
    Keywords: chronic obstructive pulmonary disease, case–control study, single nucleotide polymorphism, Chinese Li minority population


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