Relationship Between Gene Polymorphism And Susceptibility To Chronic Obstructive Pulmonary Disease In Hainan Han And Li Populations

Purpose:Chronic obstructive pulmonary disease (COPD) is a respiratory disease. Individual genetic predisposition factors affected the incidence of COPD risk. Our purpose was to investigate whether single nucleotide polymorphisms (SNPs) in multiple genetic variants were related to COPD risk in Han and Li ethnic from Hainan province. Find related genes of affected the risk of COPD. We provided a theoretical basis for the COPD screening of early prevention, diagnosed and treatment.Methods:In our research, we recruited 480 subjects (234 Li ethnic,246 Han ethnic) who were diagnosed in 2012-2014 with COPD at People’s Hospital of Hainan Province. Control group included 580 subjects (240 Li population,350 Han population).We genotyped 33 SNPs by the Sequenom MassARRAY and evaluated their association with COPD using the χ2 test and genetic model analysis.Results:1. Chi-square test was found, rs7671167 (FAM13A), rs950063(MR2054), rs17050782(SETD7), rs652520(ATF1P1), rs1923539(SFTPD), rs17157266 (AHNAK), rs667282(CHRNA5), rs8048576(ATP2C2), rs7937(EGLN2) loci which Li and Han population have significantly difference in frequency distribution.2. The genetic model analysis found, rs17050782 (odds ratio [OR]=1.40,95% confidence interval[CI]=1.07-1.83, p=0.017), in the SETD7 gene, rs667282 (OR=1.36,95%CI=1.05-1.76, p=0.029), in the CHRN3/5 gene, rs8048576 in the ATP2C2 geners 17050782 (OR=0.68,95%CI=0.52-0.88, p=0.004) were significantly associated with COPD risk at a 5% level in Li population. In Han ethnic we found three locis were related to COPD risk, respectively RNF150 rs10007052 (OR=1.48, 95%CI=1.12-1.98,p=0.008), rs13181561 of TMEM173 (OR=0.74,95%CI=0.58-0.94, p =0.018), rs9296092 of ZBTB9 gene (OR=2.54,95%CI=1.26-5.24, p=0.014).3. Further stratified analysis test between smoking and non- smoking group risk allele differences, rs2301113 (HIFIA) (p interaction=0.0074), and rs13180 (IREB2) (P interaction=0.012) of these two sites exist interaction between smoking and polymorphism.Conclusion:The results of our research indicated that Li and Han populations found FAM13, CHRNA5, IREB2, HIFIA, RNF150.SETD7 et al. genetic predisposition loci. These data could be offer novel idea into the pathogenesis of COPD.