Genetic susceptibility to the development of chronic obstructive pulmonary disease (COPD) might depend on variation in the activities of enzymes that detoxify cigarette smoke products, such as microsomal epoxide hydrolase (mEPHX) and glutathione S-transferase (GST). It was investigated whether polymorphisms in these genes had any association with susceptibility to COPD and COPD severity.The genotypes of 184 patients with COPD and 212 control subjects were determined by polymerase chain reaction followed by restriction fragment length polymorphism analysis of the mEPHX, GSTM1, GSTT1 and GSTP1 genes. All subjects were smokers or exsmokers.The proportion of GSTM1-null genotypes was significantly higher in patients with COPD than in control subjects (61.4 versus 42.5%). No differences were observed in the frequency of polymorphic genotypes for mEPHX, GSTT1 and GSTP1. During combined analysis of genetic polymorphisms for mEPHX, GSTM1 and GSTP1, it was found that there are strong indicators for susceptibility to COPD (genotype combination with at least one mutant mEPHX exon-3 allele (histidine 113), GSTM1 null and homozygous for the GSTP1 isoleucine 105 allele). The frequencies of homozygous mutant alleles of mEPHX exon 3 and the GSTM1-null genotype were significantly higher in patients with severe COPD (forced expiratory volume in one second of v35% of the predicted value).It is proposed that the combination of genetic variants including at least one mutant microsomal epoxide hydrolase exon-3 allele and glutathione S-transferase M1-null and homozygous isoleucine 105 glutathione S-transferase P1 genotypes are significant indicators of susceptibility to chronic obstructive pulmonary disease in the Taiwanese population. In addition, the homozygous variant of microsomal epoxide hydrolase exon 3 and the glutathione S-transferase M1-null genotype are independent risk factors for developing severe chronic obstructive pulmonary disease.

ABSTRACT. We conducted a case-control study to assess the role of two IL10 gene polymorphisms (rs1800896 and rs1800872) in susceptibility to liver cirrhosis, and their association with chronic hepatitis B in a Chinese population. A case-control study was designed to investigate the association between functional polymorphisms of IL10 (rs1800896 and rs1800872) and the development of liver cirrhosis. Between March 2012 and March 2014, we recruited 241 patients with liver cirrhosis and 254 controls from Xianyang Central Hospital. Genotyping of IL10 rs1800896 and rs1800872 polymorphisms was carried out using the polymerase chain reaction coupled with restriction fragment length polymorphism. Using multivariate logistic regression analysis, we found that individuals with the AA genotype of IL10 rs1800896 showed an increased risk of liver cirrhosis compared with those with the GG genotype in a codominant model (OR = 2.01, 95%CI = 1.10-3.65). In dominant and recessive models, we found that the IL10 rs1800896 polymorphism was correlated with the development of liver cirrhosis (for the dominant model, OR = 1.46, 95%CI = 1.01-2.13; for the recessive model, OR = 1.72, 95%CI = 1.01-3.02). In summary, our study suggests that the IL10 rs1800896 polymorphism is associated with the development of liver cirrhosis.

No abstract