title: TRPM8genetic variations associated with COPD risk in the Chinese Han population.
abstract: TRPM8plays a key role in COPD. The development of pulmonary hypertension (PH) in COPD adversely affects survival and exercise capacity. Thus, the aim of this study was to evaluate the possible association between single nucleotide polymorphisms (SNPs) inTRPM8and COPD or PH in COPD among the Chinese Han population. A total of 513 COPD patients and 506 controls were enrolled in the study. Six tag SNPs (tSNPs) were genotyped. The relationship between COPD or PH in COPD and the six tSNPs was evaluated using theχ2test and genetic model analysis. In the rs9789398 polymorphism, the T/C genotype was associated with an increased risk for COPD (P=0.005). Under the assumption of models of inheritance, there was an association between the rs9789398 polymorphism and COPD. In the rs9789675 polymorphism, the G/A genotype was associated with an increased risk for COPD (P=0.021). Furthermore, by theχ2test, we found that the minor allele "A" of rs9789675 (odds ratio [OR] =0.63, 95% confidence interval [CI], 0.42-0.97,P=0.034) and the minor allele "C" of rs9789398 (OR =1.59, 95% CI, 1.03-2.44,P=0.034) were associated with a decreased risk of PH in COPD in allele models. In genetic models, the genotypes "GA" and "AA" of rs9789675 were associated with a decreased risk of PH in COPD. The genotypes "TC" and "CC" of rs9789398 were associated with a decreased risk of PH in COPD. Moreover, "CG" of rs1004478 was significantly associated with a decreased risk of PH in COPD. There was a significant association between the five SNPs (rs2362290, rs9789675, rs9789398, rs1003540, and rs104478) in theTRPM8gene and the risk of PH in COPD. Our findings indicated that rs9789398 in theTRPM8gene was significantly associated with the risk of COPD in the Chinese Han population. Moreover, rs9789675, rs9789398, and rs1004478 were significantly associated with the risk of PH in COPD. This study provides a novel insight into COPD and PH in the development of COPD.
authors: State Key Laboratory of Respiratory Diseases, Guangzhou Institute of Respiratory Disease, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China.
authors: Mingmei
authors: M
authors: Xiong
authors: State Key Laboratory of Respiratory Diseases, Guangzhou Institute of Respiratory Disease, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China.
authors: Jian
authors: J
authors: Wang
authors: State Key Laboratory of Respiratory Diseases, Guangzhou Institute of Respiratory Disease, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China.
authors: Meihua
authors: M
authors: Guo
authors: State Key Laboratory of Respiratory Diseases, Guangzhou Institute of Respiratory Disease, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China.
authors: Qipeng
authors: Q
authors: Zhou
authors: State Key Laboratory of Respiratory Diseases, Guangzhou Institute of Respiratory Disease, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China.
authors: Wenju
authors: W
authors: Lu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D005541:Forced Expiratory Volume; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics / Q000503:physiopathology; D016015:Logistic Models; D008168:Lung / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D018570:Risk Assessment; D012307:Risk Factors; D050053:TRPM Cation Channels / Q000235:genetics*; D014797:Vital Capacity
chemical_list: D050053:TRPM Cation Channels; C425966:TRPM8 protein, human
keywords: COPD; case–control study; pulmonary hypertension; single nucleotide polymorphism