An initial case-control study [PMID 18841019] of 300 patients with Alzheimer's disease found that subjects carrying both the rs2071746(T;T) and rs242557(A;A) genotypes had increased risk, however the confidence interval was huge (CI: 1.12-39.29; p = 0.037) and later studies have either failed to replicate the results or shown them to only partially hold in APOE4 carriers.
[PMID 19912324] Association of the MAPT locus with Parkinson's disease
[PMID 20951764] High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal ?-amyloid in Parkinson disease
|Title||Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.|
|Odds Ratio||1.4300 [1.32-1.54]|
[PMID 17179995] Fine mapping of the MAPT locus using quantitative trait analysis identifies possible causal variants in Alzheimer's disease.
[PMID 17192721] Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts.
[PMID 17266761] Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease.
[PMID 18065436] The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family.
[PMID 18072964] No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.
[PMID 18541914] Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.
[PMID 19063963] Genetic susceptibility in Parkinson's disease.
[PMID 19558713] Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease.
[PMID 19879020] Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.
[PMID 21391235] Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
[PMID 22291217] An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology.
[PMID 23116876] An exploratory study on STX6, MOBP, MAPT, and EIF2AK3 and late-onset Alzheimer's disease.
[PMID 24923570] Structural study of the microtubule-associated protein tau locus of Alzheimer's disease in Taiwan
[PMID 27115769] Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.
[PMID 28302384] The bridging integrator 1 Gene rs7561528 polymorphism contributes to Alzheimer's disease susceptibility in East Asian and Caucasian populations.
[PMID 28415654] The associations between the MAPT polymorphisms and Alzheimer's disease risk: a meta-analysis.