Camarena Beatriz, Atkinson Elizabeth G, Baker Mark, Becerra-Palars Claudia, Chibnik Lori B, Escamilla-Orozco Raúl, Jiménez-Pavón Joanna, Koenig Zan, Márquez-Luna Carla, Martin Alicia R, Morales-Cedillo Ingrid Pamela, Olivares Ana Maria, Ortega-Ortiz Hiram, Rodriguez-Ramírez Alejandra Monserrat, Saracco-Alvarez Ricardo, Basaldua Rebecca E, Sena Brena F, Koenen Karestan C
Pharmacogenetics Department, National Institute of Psychiatry Ramón de la Fuente Muñiz, Mexico City, Mexico.
Broad Institute of MIT and Harvard, Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA.
Complex Psychiatry. 2021 Dec;7(3-4):60-70. doi: 10.1159/000518926. Epub 2021 Aug 24.
No large-scale genome-wide association studies (GWASs) of psychosis have been conducted in Mexico or Latin America to date. Schizophrenia and bipolar disorder in particular have been found to be highly heritable and genetically influenced. However, understanding of the biological basis of psychosis in Latin American populations is limited as previous genomic studies have almost exclusively relied on participants of Northern European ancestry. With the goal of expanding knowledge on the genomic basis of psychotic disorders within the Mexican population, the National Institute of Psychiatry Ramón de la Fuente Muñiz (INPRFM), the Harvard T.H. Chan School of Public Health, and the Broad Institute's Stanley Center for Psychiatric Research launched the Neuropsychiatric Genetics Research of Psychosis in Mexican Populations (NeuroMex) project to collect and analyze case-control psychosis samples from 5 states across Mexico. This article describes the planned sample collection and GWAS protocol for the NeuroMex study. The 4-year study will span from April 2018 to 2022 and aims to recruit 9,208 participants: 4,604 cases and 4,604 controls. Study sites across Mexico were selected to ensure collected samples capture the genomic diversity within the Mexican population. Blood samples and phenotypic data will be collected during the participant interview process and will contribute to the development of a local biobank in Mexico. DNA extraction will be done locally and genetic analysis will take place at the Broad Institute in Cambridge, MA. We will collect extensive phenotypic information using several clinical scales. All study materials including phenotypic instruments utilized are openly available in Spanish and English. The described study represents a long-term collaboration of a number of institutions from across Mexico and the Boston area, including clinical psychiatrists, clinical researchers, computational biologists, and managers at the 3 collaborating institutions. The development of relevant data management, quality assurance, and analysis plans are the primary considerations in this protocol article. Extensive management and analysis processes were developed for both the phenotypic and genetic data collected. Capacity building, partnerships, and training between and among the collaborating institutions are intrinsic components to this study and its long-term success.
迄今为止，墨西哥或拉丁美洲尚未开展过关于精神病的大规模全基因组关联研究（GWAS）。尤其是精神分裂症和双相情感障碍，已被发现具有高度遗传性且受基因影响。然而，由于先前的基因组研究几乎完全依赖北欧血统的参与者，拉丁美洲人群中对精神病生物学基础的了解有限。为了扩大对墨西哥人群中精神障碍基因组基础的认识，墨西哥国立精神病学研究所拉蒙·德拉富恩特·穆尼兹（INPRFM）、哈佛陈曾熙公共卫生学院以及布罗德研究所的斯坦利精神病学研究中心发起了墨西哥人群精神病神经精神遗传学研究（NeuroMex）项目，以收集和分析来自墨西哥5个州的病例对照精神病样本。本文描述了NeuroMex研究计划的样本收集和GWAS方案。这项为期4年的研究将从2018年4月持续到2022年，旨在招募9208名参与者：4604例病例和4604名对照。墨西哥各地的研究地点经过挑选，以确保所收集的样本能够反映墨西哥人群的基因组多样性。血液样本和表型数据将在参与者访谈过程中收集，并将为墨西哥当地生物样本库的建立做出贡献。DNA提取将在当地进行，基因分析将在马萨诸塞州剑桥的布罗德研究所进行。我们将使用多种临床量表收集广泛的表型信息。所有研究材料，包括所使用的表型工具，均以西班牙语和英语公开提供。所描述的研究代表了墨西哥和波士顿地区多家机构的长期合作，其中包括3个合作机构的临床精神科医生、临床研究人员、计算生物学家和管理人员。相关数据管理、质量保证和分析计划的制定是本方案文章的主要考虑因素。针对所收集的表型和基因数据，制定了广泛的管理和分析流程。合作机构之间的能力建设、伙伴关系以及培训是本研究及其长期成功的内在组成部分。
