Frequency of single nucleotide polymorphisms and alpha-synuclein haplotypes associated with sporadic Parkinson's disease in the Mexican population
*Correspondencia: Dra. Petra Yescas Gómez. Departamento de Genética y Biología Molecular. Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez. Insurgentes Sur, 3877. Col. La Fama. Tlalpan. CP 12269. Ciudad de México (México).
E-mail: yescasp@gmail.com
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.
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 métodos Se evaluaron 171 pacientes con diagnóstico de EP y 171 controles pareados por sexo y edad mediante reacción en cadena de la polimerasa en tiempo real, y se realizó un análisis estadístico para determinar la asociación de los polimorfismos con la enfermedad.
Resultados Las variantes rs356220, rs356203, rs7684318 y rs2736990 de SNCA están asociadas a la enfermedad y forman dos haplotipos de riesgo elevado para desarrollar EP esporádica en la población mexicana.
Conclusiones Las variaciones en SNCA son un factor de riesgo para desarrollar EP y pueden ser biomarcadores genéticos específicos para pacientes mestizos mexicanos como herramienta de apoyo diagnóstico en la EP esporádica.
