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