Department of Clinical Pharmacy and Pharmacology, Faculty of Pharmacy, University of Dhaka, Dhaka, 1000, Bangladesh.
Department of Medicine, Mymensingh Medical College Hospital, Mymensingh, 2200, Bangladesh.
Pharmacol Rep. 2021 Apr;73(2):574-582. doi: 10.1007/s43440-021-00243-1. Epub 2021 Mar 6.
Past studies have established the association of CHRNA5-A3-B4 gene cluster variants with various smoking behaviors in different ethnicities, yet no such study has been reported in Bengali ethnicity to date.
A case-control study with 129 smokers and 111 non-smokers was conducted and genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method aimed to manifest the association of three SNPs in this gene cluster with smoking status (SS) in a Bangladeshi population.
The non-synonymous CHRNA5 rs1s6969968 and 3'-UTR variant CHRNA3 rs578776 polymorphisms were found to have a strong association with SS. Carriers of polymorphic 'A' allele of rs16969968 showed 1.51-fold more risk of being smokers (adjusted OR = 1.51, 95% CI 0.88-2.57, p = 0.128); whereas, rs578776 polymorphic 'A' allele carriers showed 0.595-fold less risk of being smokers (adjusted OR = 1.51, 95% CI 0.88-2.57, p = 0.006). Comparing smokers and non-smokers, A/A mutant homozygous genotypes of rs578776 and rs16969968 variants pose 0.369-fold (95% CI 0.177-0.77, p = 0.008) and 3.3-fold (95% CI 0.66-16.46, p = 0.14) more risk for positive SS, respectively. No genotypic association for SS was found with intronic variant CHRNB4 rs11072768 (T/G; adjusted OR = 0.827, 95% CI 0.457-1.499, p = 0.532 and G/G; adjusted OR = 0.992, 95% CI 0.455-2.167, p = 0.985). Combination of rs16969968-positive/rs578776-negative polymorphic variants possesses the risk of positive SS in young adults. Furthermore, two new haplotypes (AAT and AAG) were identified in Bangladeshi population and GAG (OR = 0.45, 95% CI 0.25-0.8, p = 0.006) haplotype was found to be a protective factor for SS.
Nicotinic acetylcholine gene cluster CHRNA5-A3-B4 variants rs16969968 and rs578776 are associated with SS in a Bangladeshi population. Large-scale studies are warranted to establish this genotype-phenotype correlation.
过去的研究已经证实了 CHRNA5-A3-B4 基因簇变异与不同种族的各种吸烟行为有关，但迄今为止，在孟加拉族中尚未有此类研究报告。
进行了一项病例对照研究，共纳入 129 名吸烟者和 111 名不吸烟者，使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行基因分型，旨在表明该基因簇中的三个 SNP 与孟加拉人群的吸烟状态（SS）之间的关联。
发现非 synonymous CHRNA5 rs1s6969968 和 3'-UTR 变体 CHRNA3 rs578776 多态性与 SS 有很强的关联。携带 rs16969968 多态性“ A”等位基因的携带者吸烟的风险增加 1.51 倍（调整后的 OR=1.51，95%CI 0.88-2.57，p=0.128）；而 rs578776 多态性“ A”等位基因携带者吸烟的风险降低 0.595 倍（调整后的 OR=1.51，95%CI 0.88-2.57，p=0.006）。与吸烟者和不吸烟者相比，rs578776 和 rs16969968 变体的 A/A 突变纯合基因型分别使 SS 阳性的风险增加 0.369 倍（95%CI 0.177-0.77，p=0.008）和 3.3 倍（95%CI 0.66-16.46，p=0.14）。未发现内含子变体 CHRNB4 rs11072768（T/G；调整后的 OR=0.827，95%CI 0.457-1.499，p=0.532 和 G/G；调整后的 OR=0.992，95%CI 0.455-2.167，p=0.985）与 SS 存在基因关联。rs16969968 阳性/rs578776 阴性多态性变体的组合具有使年轻人 SS 阳性的风险。此外，在孟加拉人群中鉴定出了两个新的单倍型（AAT 和 AAG），并且发现 GAG（OR=0.45，95%CI 0.25-0.8，p=0.006）单倍型是 SS 的保护因素。
尼古丁乙酰胆碱基因簇 CHRNA5-A3-B4 变体 rs16969968 和 rs578776 与孟加拉人群的 SS 有关。需要进行大规模研究来确定这种基因型-表型相关性。
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