Lueders Kira K, Hu Stella, McHugh Louise, Myakishev Max V, Sirota Leo A, Hamer Dean H
Laboratory of Biochemistry, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892-4255, USA.
Nicotine Tob Res. 2002 Feb;4(1):115-25. doi: 10.1080/14622200110098419.
The beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2) is a logical candidate for influencing smoking behavior and nicotine dependence. We discovered six single nucleotide polymorphisms (SNPs) in the CHRNB2 gene by surveying 15.4 kb of genomic sequence including a previously undescribed 3' untranslated region that extends 4.0 kb downstream of the coding region. One of the SNPs causes an amino acid substitution in exon 5, one occurs in the promoter region, one changes an intronic base, and three occur in the 3' untranslated region. The ethnically dependent allele frequencies and the marker-to-marker linkage disequilibrium patterns of five of these polymorphisms were determined. The SNPs were assayed in 743 individuals for whom information on smoking history and lifelong nicotine dependence was available. No significant associations of the individual markers or their haplotypes to smoking behavior or level of nicotine dependence were found.
β2-神经元烟碱型乙酰胆碱受体基因(CHRNB2)是影响吸烟行为和尼古丁依赖的一个合理候选基因。我们通过检测15.4 kb的基因组序列,在CHRNB2基因中发现了6个单核苷酸多态性(SNP),其中包括一个先前未描述的3'非翻译区,该区域在编码区下游延伸4.0 kb。其中一个SNP在外显子5中导致氨基酸替换,一个发生在启动子区域,一个改变内含子碱基,三个发生在3'非翻译区。确定了这些多态性中五个的种族依赖性等位基因频率和标记间连锁不平衡模式。在743名有吸烟史和终身尼古丁依赖信息的个体中对这些SNP进行了检测。未发现单个标记或其单倍型与吸烟行为或尼古丁依赖水平有显著关联。