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

D.J. Dávila-Ortiz de Montellano, M. Rodríguez-Violante, A. Fresán, N. Monroy-Jaramillo, P. Yescas-Gómez [REV NEUROL 2016;63:345-350] PMID: 27699750 DOI: https://doi.org/10.33588/rn.6308.2016023

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Volumen 63 | Number 08 | Nº of views of the article 6.736 | Nº of PDF downloads 274 | Article publication date 16/10/2016

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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. KeywordsMexican population Parkinson’s disease Risk haplotypes rs2736990 rs356203 rs356220 rs7684318 SNCA CategoriesNeurodegeneración Trastornos del movimiento

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Original

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

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