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墨西哥帕金森病研究项目:帕金森病流行病学与基因研究全国网络

MEX-PD: A National Network for the Epidemiological & Genetic Research of Parkinson's Disease.

作者信息

Lázaro-Figueroa Alejandra, Reyes-Pérez Paula, Morelos-Figaredo Eugenia, Guerra-Galicia Carlos M, Estrada-Bellmann Ingrid, Salinas-Barboza Karla, Matuk-Pérez Yamil, Gandarilla-Martínez Nadia A, Caballero-Sánchez Ulises, Flores-Ocampo Victor, Montés-Alcántara Pablo, Espinosa-Méndez Ian M, Moral Alejandra Zayas-Del, Gaspar-Martínez Edith, Vazquez-Guevara Damaris, Rodríguez-Violante Mayela, Inca-Martinez Miguel, Mata Ignacio F, Alcauter Sarael, Rentería Miguel E, Medina-Rivera Alejandra, Ruiz-Contreras Alejandra E

机构信息

Lab. Neurogenómica Cognitiva, Unidad de Investigación en Psicobiología y Neurociencias, Coord. Psicobiología y Neurociencias, Fac. Psicología, Universidad Nacional Autónoma de México (UNAM), Ciudad de México, México.

Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, México.

出版信息

medRxiv. 2023 Aug 31:2023.08.28.23294700. doi: 10.1101/2023.08.28.23294700.

Abstract

BACKGROUND

Parkinson's Disease (PD) has a complex etiology, involving genetic and environmental factors. Most of our current understanding of the disease comes from studies in populations with mostly European ancestry, representing challenges in generalizing findings to other populations with different genetic, social, and environmental contexts. There are scarce studies focused in Latin American populations. The Mexican population is genetically diverse because its admixture from Native American, European, and African ancestries, coupled with the unique environmental conditions, stressing the relevance of establishing genetic studies in this population. Thus, we have established the (MEX-PD), a consortium to research the clinical, genetical, environmental, and neurophysiological bases of the phenotypic diversity in Mexican PD patients.

OBJECTIVES

Describing how MEX-PD was established, the methods and instruments and presenting the first results.

METHODS

Patients and controls were recruited from medical centers in 20 states of Mexico. Initial recruitment included neurological evaluation, cognitive assessment, and DNA collection.

RESULTS

MEX-PD has registered 302 controls and 262 PD patients with a mean age of diagnosis of 61 years (SD=10.86). There were 19.8% PD patients identified with early onset. Levodopa was the most common pharmacological treatment.

CONCLUSIONS

MEX-PD contributes to understand PD nationally. The information gathered here will allow us to understand the prevalence of mental health, neurological symptoms, and cognitive function in the PD Mexican population and how genetical and environmental factors contributes to those outcomes. These will advocate for personalized treatments and improving quality of life in the Mexican population.

摘要

背景

帕金森病(PD)病因复杂,涉及遗传和环境因素。我们目前对该疾病的大多数认识来自对主要为欧洲血统人群的研究,这给将研究结果推广到具有不同遗传、社会和环境背景的其他人群带来了挑战。针对拉丁美洲人群的研究很少。墨西哥人群在基因上具有多样性,因为它混合了美洲原住民、欧洲和非洲血统,再加上独特的环境条件,凸显了在该人群中开展基因研究的重要性。因此,我们成立了墨西哥帕金森病研究联盟(MEX-PD),这是一个研究墨西哥帕金森病患者表型多样性的临床、遗传、环境和神经生理学基础的联盟。

目的

描述MEX-PD是如何成立的、方法和工具,并展示首批研究结果。

方法

从墨西哥20个州的医疗中心招募患者和对照。初始招募包括神经学评估、认知评估和DNA采集。

结果

MEX-PD已登记302名对照和262名帕金森病患者,平均诊断年龄为61岁(标准差=10.86)。19.8%的帕金森病患者为早发型。左旋多巴是最常用的药物治疗。

结论

MEX-PD有助于在全国范围内了解帕金森病。在此收集的信息将使我们能够了解墨西哥帕金森病患者群体中心理健康、神经症状和认知功能的患病率,以及遗传和环境因素如何导致这些结果。这些将有助于倡导个性化治疗并改善墨西哥人群的生活质量。

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