脑源性神经营养因子和5-羟色胺转运体基因多态性对吸烟表型的影响：一项针对日本参与者的初步研究。
Effect of genetic polymorphism of brain-derived neurotrophic factor and serotonin transporter on smoking phenotypes: A pilot study of Japanese participants.
作者信息
Ohmoto Masanori, Takahashi Tatsuo
机构信息
Faculty of Pharmaceutical Sciences, Hokuriku University, Ho-3 Kanagawa-machi, Kanazawa 920-1181, Japan.
出版信息
Heliyon. 2019 Feb 15;5(2):e01234. doi: 10.1016/j.heliyon.2019.e01234. eCollection 2019 Feb.
PURPOSE
This study investigated whether a gene polymorphism causing a Val66Met substitution (rs6265) in brain-derived neurotrophic factor (BDNF) is associated with smoking initiation, smoking cessation, nicotine dependence and age of smoking initiation, in Japanese participants. Additionally, this study examined whether the S allele of the serotonin transporter gene-linked polymorphic region (5-HTTLPR) is associated with the Val66Met polymorphism on smoking phenotypes.
PATIENTS AND METHODS
The genotypic proportion of the polymorphism responsible for Val66Met was determined in 148 participants including 88 current smokers, 21 former smokers, and 39 never smokers, and Fisher's exact test was used to investigate the relationship between this polymorphism and smoking cessation and initiation as well as the association between the genotypes of current smokers with a heavy smoking index (HSI) and the age of smoking initiation. In addition to the Val66Met polymorphism, the polymorphism has also been evaluated in a specific subset of participants.
RESULTS
We found statistically significant correlations between the Val66Met polymorphism and the HSI, both in the whole study sample (P = 0.017) and in the male subgroup (P = 0.049). Moreover, the polymorphism was associated with the age of smoking initiation in current smokers carrying the Met allele, in both the whole study sample (P = 0.041) and the male subgroup (P = 0.041). On the other hand, no association was observed between the Val66Met polymorphism, either alone or in combination with the polymorphism, and the age of smoking cessation. Finally, no independent effects of the Val66Met genotype on the age of smoking initiation were detected.
CONCLUSION
This pilot study provides preliminary findings regarding the influence of Val66Met on smoking phenotypes and the interacting effect of on the association between Val66Met and smoking phenotypes in Japanese participants.
目的
本研究调查了在日本参与者中，脑源性神经营养因子（BDNF）中导致缬氨酸66位被甲硫氨酸替代的基因多态性（rs6265）是否与开始吸烟、戒烟、尼古丁依赖及开始吸烟的年龄相关。此外，本研究还检测了血清素转运体基因连锁多态性区域（5-HTTLPR）的S等位基因是否与缬氨酸66位甲硫氨酸多态性在吸烟表型上存在关联。
患者与方法
在148名参与者中确定了导致缬氨酸66位甲硫氨酸多态性的基因型比例，其中包括88名当前吸烟者、21名既往吸烟者和39名从不吸烟者，并采用Fisher精确检验来研究这种多态性与戒烟及开始吸烟之间的关系，以及当前吸烟者的基因型与重度吸烟指数（HSI）和开始吸烟年龄之间的关联。除了缬氨酸66位甲硫氨酸多态性外，还在特定的参与者亚组中评估了该多态性。
结果
我们发现，在整个研究样本（P = 0.017）和男性亚组（P = 0.049）中，缬氨酸66位甲硫氨酸多态性与HSI之间存在统计学上的显著相关性。此外，在整个研究样本（P = 0.041）和男性亚组（P = 0.041）中，该多态性与携带甲硫氨酸等位基因的当前吸烟者的开始吸烟年龄相关。另一方面，未观察到缬氨酸66位甲硫氨酸多态性单独或与该多态性联合与戒烟年龄之间存在关联。最后，未检测到缬氨酸66位甲硫氨酸基因型对开始吸烟年龄有独立影响。
结论
这项初步研究提供了关于缬氨酸66位甲硫氨酸对吸烟表型影响以及该多态性对日本参与者中缬氨酸66位甲硫氨酸与吸烟表型之间关联的相互作用效应的初步发现。
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