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多样性很重要:在拉丁美洲中低收入国家研究精神障碍遗传学的机会。

Diversity matters: opportunities in the study of the genetics of psychotic disorders in low- and middle-income countries in Latin America.

机构信息

Laboratório Interdisciplinar de Neurociências Clínicas (LiNC), Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.

Programa de Esquizofrenia (PROESQ), Departamento de Psiquiatria, UNIFESP, São Paulo, SP, Brazil.

出版信息

Braz J Psychiatry. 2021 Nov-Dec;43(6):631-637. doi: 10.1590/1516-4446-2020-1240.

DOI:10.1590/1516-4446-2020-1240
PMID:33237255
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8639010/
Abstract

Lack of diversity regarding genetic and environmental backgrounds weakens the generalization and clinical applicability of research findings on psychotic disorders. Notably, Latin Americans have been generally neglected in genetic studies, comprising less than 2% of genome-wide association study samples. But Latin American populations represent a unique opportunity for research, given the exceptionally high ethnic admixture of this group. Increasing genetic diversity is essential to improve the fine mapping of known regions associated with psychotic disorders, discover novel genetic associations, and replicate studies. Additionally, Latin America is characterized by massive social, political, and economic inequalities, all known risk factors for mental health issues, including psychotic disorders. This article aims to 1) discuss the challenges and advantages of studying Latin America's particular genetic makeup and environmental context; 2) review previous studies conducted in the region; and 3) describe three Latin American research initiatives in progress: the Neuropsychiatric Genetics of Psychosis in Mexican Populations (NeuroMEX), the Paisa, and the Latin American Network for the Study of Early Psychosis (ANDES) studies.

摘要

在遗传和环境背景方面缺乏多样性,会削弱精神障碍研究结果的概括性和临床适用性。值得注意的是,拉丁美洲人在遗传研究中通常被忽视,在全基因组关联研究样本中所占比例不到 2%。但鉴于该群体极高的种族混合程度,拉丁美洲人群代表了一个独特的研究机会。增加遗传多样性对于改善与精神障碍相关的已知区域的精细映射、发现新的遗传关联以及复制研究至关重要。此外,拉丁美洲的特点是存在巨大的社会、政治和经济不平等,这些都是精神健康问题(包括精神障碍)的已知风险因素。本文旨在:1)讨论研究拉丁美洲特殊遗传构成和环境背景所面临的挑战和优势;2)回顾该地区以前进行的研究;3)描述正在进行的三个拉丁美洲研究计划:墨西哥人群的精神分裂症神经精神遗传学研究(NeuroMEX)、Paisa 和拉丁美洲早期精神病研究网络(ANDES)研究。

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