Dataset Information

TRPM8 genetic variations associated with COPD risk in the Chinese Han population.

ABSTRACT: TRPM8 plays 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) in TRPM8 and 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 the ?2 test 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 the ?2 test, 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 the TRPM8 gene and the risk of PH in COPD. Our findings indicated that rs9789398 in the TRPM8 gene 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.

SUBMITTER: Xiong M

PROVIDER: S-EPMC5072571 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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TRPM8 genetic variations associated with COPD risk in the Chinese Han population.

Xiong Mingmei M Wang Jian J Guo Meihua M Zhou Qipeng Q Lu Wenju W

International journal of chronic obstructive pulmonary disease 20161014

TRPM8 plays 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) in TRPM8 and 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 ...[more]

PMID: 27789940

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Project description:Renal cell carcinoma (RCC) is a common malignant tumor of the urinary system, the pathogenesis of RCC is still unclear. It is reported that genetic variations in telomere length related-genes TERT and TERC are involved in the many types of cancers. However, little is known about the association between TERT and TERC polymorphisms and susceptibility to RCC risk. To solve this problem, a total of 293 patients with primary renal cell carcinoma and 459 healthy people were recruited in our study. Six SNPs of TERC and TERT were genotyped, and association analysis was performed. We found TERC-rs35073794 and TERT-rs10069690 were associated with an increased risk of RCC in an allele model. (OR =2.39, 95% CI = 0.99-5.80, p = 0.047; OR =1.39, 95% CI = 1.07-1.81, p = 0.014, respectively). The genotype "TC" of rs10069690 was associated with an increased risk of RCC in the genotype model. (OR =1.52, 95% CI = 1.11-2.08, p = 0.009).TERC-rs35073794 was associated with an increased risk of RCC in the codominant model. (OR =2.61, 95% CI = 1.01-6.76, p = 0.045). Rs10069690 was associated with an increased risk of RCC under the dominant model. (OR=1.44, 95% CI= 1.04-2.01, p = 0.03). Haplotype "CA" was found to be associated with a decreased risk of RCC while haplotype "TA" was associated with an increased risk of RCC without adjustment for gender, age and body mass index (BMI). (OR=0.07; 95% CI= 0.01-0.54; p=0.011; OR= 1.24; 95% CI= 0.92-1.65; p=0.013, respectively). Rs35073794, rs10936599 and rs10069690 were positively correlated with the age older than 55 (OR= 3.27, 95%CI= 1.08-9.93, p=0.031; OR= 1.56, 95%CI= 1.03-2.37, p= 0.034; OR= 4.94, 95%CI= 1.18-20.70, p= 0.022, respectively) with or without history of drinking(OR= 4.47, 95%CI= 0.99-20.25, p= 0.024; OR= 2.62, 95%CI= 1.13-6.08, p= 0.022; OR=2.44, 95%CI=1.03-5.78, p= 0.04, respectively) and clinical stage I/II RCC (OR=2.62, 95%CI=1.02-6.74, p= 0.045; OR= 2.23, 95%CI= 1.08-4.60, p= 0.028; OR= 1.63, 95%CI= 1.17-2.27, p= 0.014, respectively). Our study indicated a significant association between SNPs in the TERC, TERT and RCC risk in a Chinese Han population. It could be used as diagnostic and prognostic markers in clinical studies of renal cell carcinoma patients.

Dataset Information

TRPM8 genetic variations associated with COPD risk in the Chinese Han population.

Publications

<i>TRPM8</i> genetic variations associated with COPD risk in the Chinese Han population.

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