Chaity Nusrat Islam, Apu Mohd Nazmul Hasan
Department of Clinical Pharmacy and Pharmacology, Faculty of Pharmacy, University of Dhaka, Dhaka 1000, Bangladesh.
Heliyon. 2022 Jul 14;8(7):e09947. doi: 10.1016/j.heliyon.2022.e09947. eCollection 2022 Jul.
A recent study has identified the role of gene cluster variants rs16969968 and rs578776 of nicotinic acetylcholine receptors (nAChRs) on smoking status in Bengali ethnicity. The aim of the current study was to investigate whether these rs16969968-rs578776-rs11072768 single nucleotide polymorphisms (SNPs) of gene cluster were associated with nicotine dependence (ND) and related phenotypes.
The Fagerstrom Test for Nicotine Dependence (FTND) and Cigarette Dependence Scale (CDS-12) were used to assess the degree of ND, and genotyping was done using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method on a cohort of 129 male smokers participating in a structured questionnaire-based survey.
Smokers with AA genotype of rs16969968 SNP were at significantly increased risk of developing ND compared to its wild type variant with odds ratio (ORs) of 1.20 (FTND: 95% CI 0.25-5.37, p = 0.253) and 2.48 (CDS-12: 95% CI 0.46-13.26, p = 0.081), respectively. Conversely, smokers with AA genotype of rs578776 variant had a strong protective effect against ND development (ORs = 0.27, 95% CI 0.09-0.80, p = 0.076). There was no such link reported in rs11072768 variant carriers. Similarly, G-A/G-A diplotype of rs16969968_rs578776 variants was discovered to be a protective factor against ND. Moreover, demographic features such as age, occupation and dwelling status were found to be significantly associated with ND.
Taken together, gene cluster variants rs16969968 and rs578776 as well as specific demographic characteristics regulate ND and related smoking phenotypes in Bangladeshi male smokers. Further studies with large sample sizes are required to substantially validate the significance.
最近一项研究确定了烟碱型乙酰胆碱受体（nAChRs）基因簇变体rs16969968和rs578776在孟加拉族裔吸烟状况中的作用。本研究的目的是调查该基因簇的这些rs16969968 - rs578776 - rs11072768单核苷酸多态性（SNP）是否与尼古丁依赖（ND）及相关表型有关。
使用尼古丁依赖Fagerstrom测试（FTND）和香烟依赖量表（CDS - 12）评估ND程度，并对129名参与基于问卷的结构化调查的男性吸烟者队列采用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）方法进行基因分型。
与野生型变体相比，rs16969968 SNP的AA基因型吸烟者发生ND的风险显著增加，比值比（OR）分别为1.20（FTND：95%置信区间0.25 - 5.37，p = 0.253）和2.48（CDS - 12：95%置信区间0.46 - 13.26，p = 0.081）。相反，rs578776变体的AA基因型吸烟者对ND发展具有强大的保护作用（OR = 0.27，95%置信区间0.09 - 0.80，p = 0.076）。rs11072768变体携带者未报告有此类关联。同样，发现rs16969968_rs578776变体的G - A/G - A双倍型是预防ND的保护因素。此外，发现年龄、职业和居住状况等人口统计学特征与ND显著相关。
总体而言，基因簇变体rs16969968和rs578776以及特定的人口统计学特征调节孟加拉男性吸烟者的ND及相关吸烟表型。需要进行更大样本量的进一步研究以充分验证其意义。
