Background The risk of developing chronic obstructive pulmonary disease(COPD) is partially genetically determined as well as environmental. Many published candidate gene studies had conflicting results due to different races and sample sizes.
Objectives To investigate candidate genes and haplotype in susceptibility to COPD in a southern Chinese Han population.
Methods We performed genotyping of DNA samples in 200 COPD patients and 250 control subjects according to 54 single nucleotide polymorphisms (SNPs) in 23 genes associated with development of COPD and/or pulmonary function identified by GWAS. We also made linkage disequilibrium (LD) and haplotype analysis according the results of genotyping.
Results The frequencies of the SNP(rs3749893 of testis specific protein Y encoded like 4 (TSPYL-4) gene) G allele and SNP (rs1052443 of 5‘-nucleotidase domain containing 1 (NT5DC1) gene) A allele were significantly higher in cases than in controls (p=0.032, p<0.05,OR=0.692, 95%CI=0.495-0.970; P=0.0205, p<0.05, OR=0.670, 95%CI=0.477-0.941, respectively). There were two blocks of SNPs (rs1052443 and rs3749893; rs11155242 and rs6937121) that had sufficient precision to warrant construction of a haplotype block. We constructed the TSPYL-4 and NT5DC1 haplotypes of cases and controls, but with no significantly difference between the two groups. rs3749893 A allele of TSPYL-4 and rs1052443 C allele of NT5DC1 were associated with a protective effect from the deterioration of pulmonary function.
Conclusion TSPYL-4, NT5DC1 genes polymorphism are associated with susceptibility to COPD and pulmonary function in a southern Chinese Han population.