H1/H2 MAPT haplotype and Parkinson’s disease in Mexican mestizo population

Abstract Parkinson’s disease (PD) is characterized by bradykinesia, resting tremor, rigidity and postural instability as well as early symptoms. Previous studies that evaluated the association between H1/H2 MAPT haplotype and PD were mostly conducted in European populations in which the H1 haplotype was a reported risk factor for PD. Despite those findings, some studies have suggested that the association may be ethnically dependent. Since studies conducted in Latin American population have been scarce, we genotyped the H1/H2 MAPT haplotype in Mexican mestizo population as part of a PD case-control study. DNA was extracted from peripheral blood leucocytes in 108 cases and 108 controls and detection of the H1/H2 haplotypes was achieved by determining the MAPT_238 bp deletion/insertion variant at intron 9 through end-point PCR followed by visual 3% agarose gel electrophoresis interpretation. We observed no-association between genotypes and PD risk [OR/CI (Odds ratio/95% Confidence Interval) of 1.60 (0.78–3.29) for H1/H2 genotype and 2.26 (0.20–25.78) for H2/H2]. No-association was maintained when stratifying our groups by central ( p  = 0.27) and northern regions ( p  = 0.70). Our data suggest that H1/H2 MAPT haplotype is not a risk factor to PD in our population.