Suppr超能文献

ADH1B、ADH4、ADH1C、OPRM1、DRD2、BDNF和ALDH2基因单核苷酸多态性对高加索人群酒精依赖的影响

Effect of single-nucleotide polymorphisms in ADH1B, ADH4, ADH1C, OPRM1, DRD2, BDNF, and ALDH2 genes on alcohol dependence in a Caucasian population.

作者信息

Katsarou Martha-Spyridoula, Karakonstantis Konstantinos, Demertzis Nikolaos, Vourakis Emmanouil, Skarpathioti Aspasia, Nosyrev Aleksandr E, Tsatsakis Aristidis, Kalogridis Theodoris, Drakoulis Nikolaos

机构信息

Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, Athens, 15771, Greece.

Department of Biochemistry and Molecular Biology, Faculty of Biology, School of Health Sciences, National and Kapodistrian University of Athens, Athens, 15771, Greece.

出版信息

Pharmacol Res Perspect. 2017 Aug;5(4). doi: 10.1002/prp2.326.

Abstract

Alcohol is a frequently used addictive substance worldwide. Aim of this study is to determine the frequency distribution of SNPs within ADH1B, ADH4, ADH1C, ALDH2, BDNF, OPRM1, and DRD2 genes in a southeastern European Caucasian population from Greece. For this purpose samples of 1276 volunteers were analyzed after deidentification and anonymization. The allele distribution of the examined polymorphisms in the present Greek population cohort was as follows: rs1229984 (ADH1B): GG(wt) = 64.14%, GA = 29.86%, AA = 4.00%; rs1693482 (ADH1C): CC(wt) = 57.45%, CT = 36.76%, TT = 5.80%; rs1799971 (OPRM1): AA(wt) = 72.43%, AG = 28.72%, GG = 1.89%; rs1800497 (DRD2): CC(wt) = 70.84%, CT = 27.18%, TT = 1.98%; rs1800759 (ADH4): CC(wt) = 34.25%, CA = 48.12%, AA = 17.63%; rs6265 (BDNF): GG(wt) = 65.99%, GA = 31.02%, AA = 2.99%; and rs671 (ALDH2): GG(wt) = 99.84% GA = 0.16%, AA = 0.00%. Mutant rs1229984 allele A was ~6.5× more frequent in the Greek than in the European population. Mutant rs1693482 allele T was ~1.7× more frequent in the European than in the Greek population. Mutant alleles for polymorphisms rs1800759 and rs1799971 show similar frequencies in both northern and southern Europeans. One rs671 mutant A allele was detected in the Greek population (0.08%). The mutant rs1800497 allele T was ~1.2× more frequent in the European than in the Greek population and the mutant rs6265 allele A was ~1.1× more frequent in the European than in the Greek population. An alcohol addiction-specific algorithm was generated (TGS) that may predict alcohol addiction prevalence in a population. According to our findings, the analyzed Southeastern population may differ genetically from north Europeans due to influences from neighboring Asian and African populations and a calculated TGS score >50 indicates individuals with low susceptibility to develop alcohol addiction.

摘要

酒精是全球范围内常用的成瘾性物质。本研究的目的是确定希腊东南欧高加索人群中乙醇脱氢酶1B(ADH1B)、乙醇脱氢酶4(ADH4)、乙醇脱氢酶1C(ADH1C)、乙醛脱氢酶2(ALDH2)、脑源性神经营养因子(BDNF)、阿片受体μ1(OPRM1)和多巴胺受体D2(DRD2)基因内单核苷酸多态性(SNP)的频率分布。为此,对1276名志愿者的样本进行了身份识别去除和匿名化处理后进行分析。在当前希腊人群队列中,所检测多态性的等位基因分布如下:rs1229984(ADH1B):GG(野生型)=64.14%,GA=29.86%,AA=4.00%;rs1693482(ADH1C):CC(野生型)=57.45%,CT=36.76%,TT=5.80%;rs1799971(OPRM1):AA(野生型)=72.43%,AG=28.72%,GG=1.89%;rs1800497(DRD2):CC(野生型)=70.84%,CT=27.18%,TT=1.98%;rs1800759(ADH4):CC(野生型)=34.25%,CA=48.12%,AA=17.63%;rs6265(BDNF):GG(野生型)=65.99%,GA=31.02%,AA=2.99%;以及rs671(ALDH2):GG(野生型)=99.84%,GA=0.16%,AA=0.00%。希腊人群中突变型rs1229984等位基因A的频率比欧洲人群高约6.5倍。突变型rs1693482等位基因T在欧洲人群中的频率比希腊人群高约1.7倍。多态性rs1800759和rs1799971的突变等位基因在北欧和南欧人群中的频率相似。在希腊人群中检测到1个rs671突变型A等位基因(0.08%)。突变型rs1800497等位基因T在欧洲人群中的频率比希腊人群高约1.2倍,突变型rs6265等位基因A在欧洲人群中的频率比希腊人群高约1.1倍。生成了一种酒精成瘾特异性算法(TGS),可预测人群中的酒精成瘾患病率。根据我们的研究结果,由于受邻近亚洲和非洲人群的影响,所分析的东南欧人群在基因上可能与北欧人群不同,计算得出的TGS评分>50表明个体发生酒精成瘾的易感性较低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5653/5684860/55f596d4a43d/PRP2-5-e00326-g001.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验