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[Frequency of single nucleotide polymorphisms and alpha-synuclein haplotypes associated with sporadic Parkinson's disease in the Mexican population].

Abstract：

INTRODUCTION:Parkinson's disease (PD) is a common neurodegenerative disease which begins in adulthood. Its incidence in Mexico is estimated to be 40-50 cases per 100,000 inhabitants/year and is the fourth reason for medical care in the National Institute of Neurology and Neurosurgery. The protein alpha-synuclein, SNCA, plays a key role in the pathology of PD, and its polymorphisms have been associated with an increased risk of developing the disease. AIM:To evaluate the risk of PD represented by the polymorphisms rs2619364, rs2619363, rs2736990, rs7684318, rs17016074, rs356219, rs356220 and rs356203 of SNCA in a sample of Mexican subjects. SUBJECTS AND METHODS:Altogether 171 patients diagnosed with PD and 171 gender- and age-paired controls were assessed by means of real-time polymerase chain reaction, and a statistical analysis was performed to determine the association between the polymorphisms and the disease. RESULTS:The SNCA variants rs356220, rs356203, rs7684318 and rs2736990 were associated with the disease and form two haplotypes with a high risk of developing sporadic PD in the Mexican population. CONCLUSIONS:Variations in SNCA are a risk factor for the development of PD and can act as specific genetic biomarkers as a diagnostic support tool in sporadic PD for Mexican mestizo patients. TITLE:Frecuencia de polimorfismos de nucleotido unico y haplotipos de alfa-sinucleina asociados con la enfermedad de Parkinson esporadica en poblacion mexicana. :Introduccion. La enfermedad de Parkinson (EP) es una entidad neurodegenerativa comun de inicio en la etapa adulta. Su incidencia en Mexico se estima en 40-50 casos por 100.000 habitantes/año y constituye la cuarta causa de atencion medica en el Instituto Nacional de Neurologia y Neurocirugia. La proteina alfa-sinucleina, SNCA, es clave en la patologia de la EP y sus polimorfismos se han asociado a un riesgo aumentado de desarrollarla. Objetivo. Evaluar el riesgo que representan los polimorfismos rs2619364, rs2619363, rs2736990, rs7684318, rs17016074, rs356219, rs356220 y rs356203 de SNCA en una muestra de sujetos mexicanos para la EP. Sujetos y metodos. Se evaluaron 171 pacientes con diagnostico de EP y 171 controles pareados por sexo y edad mediante reaccion en cadena de la polimerasa en tiempo real, y se realizo un analisis estadistico para determinar la asociacion de los polimorfismos con la enfermedad. Resultados. Las variantes rs356220, rs356203, rs7684318 y rs2736990 de SNCA estan asociadas a la enfermedad y forman dos haplotipos de riesgo elevado para desarrollar EP esporadica en la poblacion mexicana. Conclusiones. Las variaciones en SNCA son un factor de riesgo para desarrollar EP y pueden ser biomarcadores geneticos especificos para pacientes mestizos mexicanos como herramienta de apoyo diagnostico en la EP esporadica.

journal_name

Rev Neurol

journal_title

Revista de neurologia

authors

Davila-Ortiz de Montellano DJ,Rodriguez-Violante M,Fresan A,Monroy-Jaramillo N,Yescas-Gomez P

subject

Has Abstract

pub_date

2016-10-16 00:00:00

pages

345-350

issue

eissn

0210-0010

issn

1576-6578

pii

rn2016023

journal_volume

pub_type

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[Frequency of single nucleotide polymorphisms and alpha-synuclein haplotypes associated with sporadic Parkinson's disease in the Mexican population].