SERPINE2 rs16865421 polymorphism is associated with a lower risk of chronic obstructive pulmonary disease in Uygur population: a case control study.

Background The present study aimed to investigate the relationship between seven polymorphisms of the serine protease inhibitor-2 (SERPINE2) gene and the risk of chronic obstructive pulmonary disease (COPD) in the Uygur population via a case-control study. Methods In total, 440 Uygur patients with COPD were included in the patient group and 384 healthy individuals were recruited in the matched control group. Data on demographic variables, smoking status, occupational dust exposure history and living conditions were collected. Polymorphism analysis was performed for seven loci of the SERPINE2 gene by mass spectrometry. Results The genotype distribution of rs16865421 showed a significant difference between the patient and control groups (p < 0.05). Participants carrying the rs16865421-AG heterozygous mutant genotype had a lower risk of COPD compared to those with the rs16865421-A allele (odds ratio = 0.68, 95% confidence interval = 0.47-0.98, p = 0.041). However, no such association was found for rs1438831, rs6734100, rs6748795, rs7583463, rs840088 and rs975278. No significant interaction was observed between the genotypes and risk factors. Conclusions Polymorphisms of rs16865421-AG carried by the Uygur population may be protective against COPD.