Scott Marcia S
National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, Maryland.
Am J Addict. 2017 Aug;26(5):526-531. doi: 10.1111/ajad.12584.
Racial/ethnic groups comprise more than 20% of the U.S. population, but many experience disproportionately high risk for alcohol misuse, often resulting in higher rates of alcohol-associated consequences. Completion of mapping the human genome has launched rapidly evolving research methods aimed at improved understanding of genetic contribution to disease. Despite decades of research on the influence of genetic and environmental risks on alcohol use disorders and outcomes, few studies have included racial/ethnic subpopulations in sufficient numbers to allow for proper statistical analysis.
The papers in this special issue help to elucidate current knowledge on the etiology of genetic and environmental contributors and potential moderators of alcohol use and associated problems among racial/ethnic populations. The lack of racial/ethnic diversity across many genetic studies contributes to challenges in interpretation of findings and eventually applications to precision medicine.
Proposed approaches to overcome disparities in racial/ethnic participant recruitment in genetic studies include methods to address population stratification in allele frequency, improve transparency in subjects' consenting to participate, and engaging interdisciplinary research teams and community involvement to improve recruitment of racial/ethnic minorities.
The reviews presented underscore various gaps in our knowledge of the genetic influences on alcohol use disorders due to the failure to include racially and ethnically diverse populations in genetic and epigenetic study samples. New directions are suggested to overcome the resulting research challenges and ultimately to inform future personalized intervention approaches for racial/ethnic populations.
Inclusion of heterogeneous populations in genomic research will provide a better comprehension of possible unique genetic factors in the broader general population that may be missed due to exclusion of unique and common variants that may be present in racial/ethnic populations. (Am J Addict 2017;26:526-531).
种族/族裔群体占美国人口的20%以上，但许多群体存在酒精滥用风险过高的问题，这往往导致与酒精相关后果的发生率更高。人类基因组图谱的完成催生了快速发展的研究方法，旨在更好地理解基因对疾病的影响。尽管数十年来一直在研究基因和环境风险对酒精使用障碍及后果的影响，但很少有研究纳入足够数量的种族/族裔亚群体以进行适当的统计分析。
本期特刊中的论文有助于阐明关于基因和环境因素以及种族/族裔人群中酒精使用及相关问题的潜在调节因素的病因学的现有知识。许多基因研究缺乏种族/族裔多样性，这给研究结果的解释以及最终在精准医学中的应用带来了挑战。
为克服基因研究中种族/族裔参与者招募方面的差异而提出的方法包括解决等位基因频率中的群体分层问题、提高受试者参与同意的透明度，以及组建跨学科研究团队并让社区参与以改善对种族/族裔少数群体的招募。
所呈现的综述强调了我们在基因对酒精使用障碍影响方面的知识存在的各种差距，原因是基因和表观遗传学研究样本中未纳入种族和族裔多样化的人群。建议采用新的方向来克服由此产生的研究挑战，并最终为种族/族裔人群的未来个性化干预方法提供依据。
在基因组研究中纳入异质人群将有助于更好地理解更广泛普通人群中可能存在的独特基因因素，这些因素可能因排除种族/族裔人群中可能存在的独特和常见变异而被遗漏。（《美国成瘾杂志》2017年；26:526 - 531）
