Genetics and smoking.
Genetics and smoking.
复制标题
DOI：
10.1007/s40429-013-0006-3
复制
发表时间：
2014-03-01
影响因子：
4.3
通讯作者：
中科院分区：
文献类型：
--
作者：
经常吸烟是心血管疾病和癌症的主要风险因素，因此是全世界最可预防的发病率和死亡率原因之一。尼古丁的摄入量、对中枢神经系统的影响以及尼古丁的新陈代谢都受到生物途径的调节；其中一些是众所周知的，而另一些则不是。基因研究提供了一种深入了解导致这些途径的基因的方法。近年来，大型全基因组关联研究(GWAS)的荟萃分析一直表明，吸烟相关性状的最大遗传贡献来自尼古丁受体亚单位基因的变异。许多其他基因，包括那些编码参与尼古丁新陈代谢的酶的基因，也与此有关。然而，被识别的遗传变异所解释的表型变异的比例非常小。本文综述了近年来吸烟行为的遗传学和遗传流行病学的研究进展，重点介绍了染色体15q25上尼古丁受体基因簇的研究。还简要回顾了支持尼古丁依赖和精神分裂症共同病理生理学的新途径的证据。本文对吸烟行为中基因-环境相互作用的研究现状进行了综述。
Regular smoking is the major risk factor for cardiovascular disease and cancers, and thus is one of the most preventable causes of morbidity and mortality worldwide. Intake of nicotine, its central nervous system effects, and its metabolism are regulated by biological pathways; some of these are well known, but others are not. Genetic studies offer a method for developing insights into the genes contributing to those pathways. In recent years, large genome-wide association study (GWAS) meta-analyses have consistently revealed that the strongest genetic contribution to smoking-related traits comes from variation in the nicotinic receptor subunit genes. Many other genes, including those coding for enzymes involved in nicotine metabolism, also have been implicated. However, the proportion of phenotypic variance explained by the identified genetic variants is very modest. This review intends to cover progress made in genetics and genetic epidemiology of smoking behavior in recent years, and focuses on studies revealing the nicotinic receptor gene cluster on chromosome 15q25. Evidence supporting the involvement of a novel pathway in the shared pathophysiology of nicotine dependence and schizophrenia is also briefly reviewed. A summary of the current knowledge on gene–environment interactions involved in smoking behavior is included.