Díaz-Peña Roberto, Quiñones Luis A, Castro-Santos Patricia, Durán Josefina, Lucia Alejandro
Faculty of Health Sciences, Universidad Autónoma de Chile, Talca 3460000, Chile.
Laboratory of Chemical Carcinogenesis and Pharmacogenetics, Department of Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago 8320000, Chile.
J Pers Med. 2020 Oct 26;10(4):196. doi: 10.3390/jpm10040196.
The successful implementation of personalized medicine will rely on the integration of information obtained at the level of populations with the specific biological, genetic, and clinical characteristics of an individual. However, because genome-wide association studies tend to focus on populations of European descent, there is a wide gap to bridge between Caucasian and non-Caucasian populations before personalized medicine can be fully implemented, and rheumatoid arthritis (RA) is not an exception. In this review, we discuss advances in our understanding of genetic determinants of RA risk among global populations, with a focus on the Latin American population. Geographically restricted genetic diversity may have important implications for health and disease that will remain unknown until genetic association studies have been extended to include Latin American and other currently under-represented ancestries. The next few years will witness many breakthroughs in personalized medicine, including applications for common diseases and risk stratification instruments for targeted prevention/intervention strategies. Not all of these applications may be extrapolated from the Caucasian experience to Latin American or other under-represented populations.
个性化医疗的成功实施将依赖于整合从人群层面获得的信息与个体特定的生物学、遗传学和临床特征。然而,由于全基因组关联研究往往侧重于欧洲裔人群,在个性化医疗能够全面实施之前,白种人群体与非白种人群体之间存在很大差距需要弥合,类风湿性关节炎(RA)也不例外。在本综述中,我们讨论了全球人群中RA风险的遗传决定因素的认识进展,重点关注拉丁美洲人群。地理上受限的遗传多样性可能对健康和疾病具有重要影响,在遗传关联研究扩展到包括拉丁美洲和其他目前代表性不足的血统之前,这些影响仍将未知。未来几年将见证个性化医疗的许多突破,包括常见疾病的应用以及针对预防/干预策略的风险分层工具。并非所有这些应用都可以从白种人的经验外推到拉丁美洲或其他代表性不足的人群。