烟碱型乙酰胆碱受体基因重测序与常见和罕见变异体与尼古丁依赖 Fagerström 测试的关联。
Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.
机构信息
Center for Health Sciences, SRI International, Menlo Park, CA 94025, USA.
出版信息
Neuropsychopharmacology. 2010 Nov;35(12):2392-402. doi: 10.1038/npp.2010.120. Epub 2010 Aug 25.
Common single-nucleotide polymorphisms (SNPs) at nicotinic acetylcholine receptor (nAChR) subunit genes have previously been associated with measures of nicotine dependence. We investigated the contribution of common SNPs and rare single-nucleotide variants (SNVs) in nAChR genes to Fagerström test for nicotine dependence (FTND) scores in treatment-seeking smokers. Exons of 10 genes were resequenced with next-generation sequencing technology in 448 European-American participants of a smoking cessation trial, and CHRNB2 and CHRNA4 were resequenced by Sanger technology to improve sequence coverage. A total of 214 SNP/SNVs were identified, of which 19.2% were excluded from analyses because of reduced completion rate, 73.9% had minor allele frequencies <5%, and 48.1% were novel relative to dbSNP build 129. We tested associations of 173 SNP/SNVs with the FTND score using data obtained from 430 individuals (18 were excluded because of reduced completion rate) using linear regression for common, the cohort allelic sum test and the weighted sum statistic for rare, and the multivariate distance matrix regression method for both common and rare SNP/SNVs. Association testing with common SNPs with adjustment for correlated tests within each gene identified a significant association with two CHRNB2 SNPs, eg, the minor allele of rs2072660 increased the mean FTND score by 0.6 Units (P=0.01). We observed a significant evidence for association with the FTND score of common and rare SNP/SNVs at CHRNA5 and CHRNB2, and of rare SNVs at CHRNA4. Both common and/or rare SNP/SNVs from multiple nAChR subunit genes are associated with the FTND score in this sample of treatment-seeking smokers.
先前的研究表明,烟碱型乙酰胆碱受体(nAChR)亚基基因中的常见单核苷酸多态性(SNP)与尼古丁依赖的测量指标有关。我们研究了常见 SNP 和罕见单核苷酸变异(SNV)在 nAChR 基因中对戒烟治疗的吸烟者尼古丁依赖测试(Fagerström 测试,FTND)评分的贡献。通过下一代测序技术对 448 名参加戒烟试验的欧洲裔美国人的 10 个基因的外显子进行了重测序,并通过 Sanger 技术对 CHRNB2 和 CHRNA4 进行了重测序,以提高测序覆盖率。共鉴定出 214 个 SNP/SNV,其中 19.2%由于完成率降低而被排除在分析之外,73.9%的次要等位基因频率<5%,48.1%相对于 dbSNP 构建版 129 是新的。我们使用来自 430 名个体的数据(由于完成率降低,有 18 人被排除在外),使用线性回归进行常见 SNP/SNV 的测试,使用队列等位基因总和测试和加权总和统计量进行罕见 SNP/SNV 的测试,使用多变量距离矩阵回归方法进行常见和罕见 SNP/SNV 的测试,检测了 173 个 SNP/SNV 与 FTND 评分的关联。对每个基因中相关测试进行调整后的常见 SNP 关联测试确定了与两个 CHRNB2 SNP 的显著关联,例如,rs2072660 的次要等位基因使平均 FTND 评分增加了 0.6 个单位(P=0.01)。我们观察到 CHRNA5 和 CHRNB2 上常见和/或罕见 SNP/SNV 以及 CHRNA4 上罕见 SNV 与 FTND 评分之间存在显著关联。在这个寻求治疗的吸烟者样本中,多个 nAChR 亚基基因的常见和/或罕见 SNP/SNV 都与 FTND 评分相关。