CHRNA3基因rs1051730位点和CHRNA5基因rs16969968位点的多态性与墨西哥人群中的重度吸烟、肺癌和慢性阻塞性肺疾病相关。

CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms are associated with heavy smoking, lung cancer, and chronic obstructive pulmonary disease in a mexican population.

作者信息

Pérez-Morales Rebeca, González-Zamora Alberto, González-Delgado María Fernanda, Calleros Rincón Esperanza Y, Olivas Calderón Edgar H, Martínez-Ramírez Ollin Celeste, Rubio Julieta

机构信息

Laboratorio de Biología Celulary Molecular, Facultad de Ciencias Químicas, Universidad Juárez del Estado de Durango, Durango, México.

Laboratorio de Biología Evolutiva. Facultad de Ciencias Biológicas, Universidad Juárez del Estado de Durango, Durango, México.

出版信息

Ann Hum Genet. 2018 Nov;82(6):415-424. doi: 10.1111/ahg.12264. Epub 2018 Jul 11.

DOI:10.1111/ahg.12264

PMID:29993116

Abstract

BACKGROUND AND PURPOSE

Smoking is a major public health problem worldwide. Polymorphisms in CHRNA3, CHRNA5, and CHRNB4 receptors play a critical role in nicotine dependence, lung cancer (LC) risk, and chronic obstructive pulmonary disease (COPD). This study characterized the CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms in a Mexican population and its association with nicotine dependence, LC, and COPD.

METHODS

The study included 312 healthy individuals, 74 LC cases and 117 COPD cases. Genotyping was performed using TaqMan probes, and the data were analyzed using logistic regression adjusted for covariates.

RESULTS

The polymorphism CHRNA3 rs1051730 and CHRNA5 rs16969968 were in the Hardy-Weinberg equilibrium and the allelic frequency of the A allele was 0.15, for both polymorphisms. The smokers were stratified in heavy smokers and moderate/light smokers, and we found in A alleles an OR = 2.86 (P = 0.01) to CHRNA3 rs1051730 and OR = 3.12 (P = 0.03) to CHRNA5 rs16969968. In addition, the A alleles in CHRNA3 rs1051730 and CHRNA5 rs16969968 were associated with the risk for LC (OR = 1.66, P = 0.07 and OR = 1.57, P = 0.1, respectively) and for COPD (OR = 2.04, P = 0.01 and OR = 1.91, P = 0.02, respectively).

CONCLUSION

CHRNA3/5 polymorphisms are associated with nicotine dependence, LC, and COPD in Mexicans.

摘要

背景与目的

吸烟是全球主要的公共卫生问题。CHRNA3、CHRNA5和CHRNB4受体的多态性在尼古丁依赖、肺癌（LC）风险和慢性阻塞性肺疾病（COPD）中起关键作用。本研究对墨西哥人群中的CHRNA3 rs1051730和CHRNA5 rs16969968多态性进行了特征分析，并探讨了其与尼古丁依赖、LC和COPD的关联。

方法

该研究纳入了312名健康个体、74例LC患者和117例COPD患者。使用TaqMan探针进行基因分型，并对数据进行协变量调整后的逻辑回归分析。

结果

CHRNA3 rs1051730和CHRNA5 rs16969968多态性处于Hardy-Weinberg平衡状态，两种多态性的A等位基因频率均为0.15。吸烟者被分为重度吸烟者和中度/轻度吸烟者，我们发现CHRNA3 rs1051730的A等位基因的比值比（OR）=2.86（P=0.01），CHRNA5 rs16969968的A等位基因的OR=3.12（P=0.03）。此外，CHRNA3 rs1051730和CHRNA5 rs16969968的A等位基因与LC风险相关（OR分别为1.66，P=0.07和OR=1.57，P=0.1），与COPD风险相关（OR分别为2.04，P=0.01和OR=1.91，P=0.02）。