Association Of The H1/H2 Haplotype, Rs242562 And Rs2435207 Variants In MAPT Gene With Parkinson's Disease

Background:Parkinson's disease (PD) is a common neurodegenerative disease, especially in senior group. It is characterized by resting tremor, rigidity, bradykinesia, and postural instability. It is widely accepted that environmental, hereditary factors and progress of aging all have essential influences on the mechanism of onset of PD. Recent researches discovered that H1/H2 haplotype and certain single nucleotide polymorphism (SNP) in MAPT gene may increase the risk for Parkinson's disease, and vary among different ethnicities.Objective and Method:We conducted a case-control study to determine the prevalence of H1/H2 haplotype, rs242562 and rs2435207 variants in MAPT gene in 719 patients with sporadic PD and 503 unrelated healthy controls in Han population in central part of China, and carried out an haplotype analysis among rs242562 and rs2435207. We utilized restricted fragments length polymorphism and DNA sequencing methods to identify genotype of these three variants.Results:The samples we analyzed were all identified as H1/H1 genotype. There is no statistical difference in genotype or allele frequencies of rs242562 variant in MAPT between sporadic PD patient group and healthy control group (genotype:χ2=0.371, P=0.831; allele:χ2=0.009, P=0.925). There is no statistical difference in genotype or allele frequencies of rs2435207 variant in MAPT between sporadic PD patient group and healthy control group (genotype:χ2=0.393, P=0.822; allele:χ2=0.080, P=0.778). There is statistical difference in the A-A haplotype frequency for rs242562 and rs2435207 in MAPT between late onset sporadic PD patient group and healthy control group (P=0.035).Conclusion:The H2 haplotype in MAPT gene is rare in Han population in central part of China. The A-A haplotype for rs242562 and rs2435207 in MAPT gene is a risk factor for late onset sporadic PD in Han population in central part of China.