Clinical and genetic insights of Parkinson's Disease in a Mexican cohort: highlighting Latino's diversity.

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

Objective: This study aims to describe the establishment of the Mexican Parkinson's Research Network (MEX-PD), a consortium dedicated to investigating the clinical, genetic, environmental, and neurophysiological underpinnings of phenotypic diversity in Mexican Parkinson's disease (PD) patients and to present preliminary clinical and genetic outcomes.

Methods: PD patients and control participants were recruited from medical centers across Mexico. The initial recruitment phase involved comprehensive neurological evaluations, cognitive assessments, and DNA collection. We conducted classical statistical analyses on clinical variables. Secondly, following genotyping with NeuroBooster array, quality control and imputation, preliminary analysis of ancestry composition, allele frequency calculation and association analysis was carried out for 294 samples.

Results: The cohort consisted of 530 control participants and 470 PD patients, with a mean age of diagnosis of 59.9 ± 11.52 years. Among the PD patients, 21.2% were identified as having early-onset PD (<50 years old). Ancestry composition analysis revealed that the main components were European (49.8% in cases and 42.4% in controls) and Native American (46.1% in cases and 54.3% in controls). Variants in genes such as NOTCH, LRRK2, MTHFR and KPNA1 emerged as relevant to be prioritized in future studies.

Conclusions: The MEX-PD consortium will contribute to the understanding of PD within the Mexican population. The data collected will enable a deeper comprehension of the specific contributions of genetic and environmental factors to these outcomes.

Significance: This research advocates for the development of personalized treatments and aims to improve the quality of life for Mexican PD patients.

Abstract Image

Abstract Image

MEX-PD:帕金森病流行病学和遗传学研究的国家网络。
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部分理解来自于对主要具有欧洲血统的人群的研究,这代表着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的挑战。很少有针对拉丁美洲人口的研究。墨西哥人口的基因多样性是因为其混合了美洲原住民、欧洲和非洲祖先,再加上独特的环境条件,强调了在该人口中进行基因研究的相关性。因此,我们建立了墨西哥帕金森病研究网络(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、遗传学、环境和神经生理学基础的联盟。目的:描述MEX-PD是如何建立的,方法和仪器,并介绍最初的结果。方法:从墨西哥20个州的医疗中心招募患者和对照组。最初的招募包括神经系统评估、认知评估和DNA采集。结果:MEX-PD登记了302名对照和262名PD患者,平均诊断年龄为61岁(SD=10.86)。19.8%的PD患者被确定为早发。左旋多巴是最常见的药物治疗方法。结论:MEX-PD有助于在全国范围内了解PD。这里收集的信息将使我们能够了解墨西哥帕金森病患者的心理健康、神经症状和认知功能的患病率,以及遗传和环境因素如何影响这些结果。这将倡导个性化治疗,提高墨西哥人口的生活质量。
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