VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca

Abstract

Introduction: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean.

Objective: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes.

Methods and material: 255 adults of Chinantec Amerindian ethnic origin were included, who underwent anthropometric and biochemical evaluation. The VNTR was amplified by end-point PCR and by 8% PAGE electrophoresis.

Results: Differences were found in the waist/hip circumference index and body mass index in the carriers of genotypes different to the one homozygous for 22 repeats with a Student's t-test value of 0.0041 and 0.0334, respectively. We also found an association with a family history of chronic disease.

Conclusion: The VNTR of ATXN2 is associated with obesity in Mexican adults of Chinantec ancestry.

Keywords: Amerindian; Amerindio; Ataxin-2; Ataxina-2; Cardiovascular risk; Metabolic; Metabólico; Obesidad; Obesity; Repeated CAG; Repetido CAG; Riesgo cardiovascular.