SNP information rs242557

Research and publications:

  17179995   Fine mapping of the MAPT locus using quantitative trait analysis identifies possible causative variants in Alzheimer's disease.

  17192721   Association of tau haplotype-marking polymorphisms with Parkinson's disease in different ethnic cohorts with Parkinson's disease.

  17266761   Haplotype-based association analysis of the MAPT locus in late-onset Alzheimer's disease.

  18065436   The tauopathy associated with mutation 3 in intron 10 of Tau: characterization of the MSTD family.

  18072964   No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.

  18541914   Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.

  18779388   Assessing the potential for excess of statistically significant results in published genetic association studies: Application to Alzheimer's disease.

  18841019   Synergistic effect of heme oxygenase-1 and tau genetic variants on Alzheimer's disease risk.

  19063963   Genetic predisposition to Parkinson's disease.

  19308965   Study of the association of common variations in the MAPT locus with late-onset Alzheimer's disease.

  19558713   The role of the H1 haplotype of the microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease.

  19879020   Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.

  19912324   Association of the MAPT locus with Parkinson's disease.

  20951764   High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal β-amyloid in Parkinson disease.

  21391235   Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.

  21397051   Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.

  21685912   Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

  21833654   Biomarkers to identify the pathological basis for frontotemporal lobar degeneration.

  22023810   Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.

  22291217   Assessing the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology.

  22911757   Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

  23116876   A preliminary study of STX6, MOBP, MAPT, and EIF2AK3 and late-onset Alzheimer's disease.

  24373676   Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.

  24851016   Genetic studies in human prion diseases.

  25426023   Biochemical studies of cerebrospinal fluid in patients with Parkinson's disease: towards a potential search for biomarkers of this disease.

  25535399   Paclitaxel-induced neuropathy: potential association of MAPT and GSK3B genotypes.

  26077951   Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

  26154020   A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

  26303052   Association analysis of GRNÂârs5848 and MAPT rs242557 polymorphisms in Parkinson's disease and multiple system atrophy: a large-scale population-based study and meta-analysis.

  26776090   SNCA gene variants are associated with motor progression, while MAPT gene variants are associated with Parkinson's disease severity.

  27115769   Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.

  27147968   Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes.

  27437086   Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

  28100725   Genome-wide association study identifies MAPT locus influencing human plasma tau levels.

  28281689   An innovative application of time-domain spectroscopy on localized surface plasmon resonance sensing.

  28302384   The rs7561528 bridge integrator 1 gene polymorphism promotes susceptibility to Alzheimer's disease in East Asian and Caucasian populations.

  28340771   A DNAzyme sensor based on target-catalyzed hairpin assembly for enzyme-free and non-label single nucleotide polymorphism genotyping.

  28402959   Meta-analysis of the association between variants in MAPT and neurodegenerative diseases.

  28415654   Association between MAPT polymorphisms and risk of Alzheimer's disease: a meta-analysis.

  29076559   Genetic influences on cognition in progressive supranuclear palsy.

  29098924   Association of microtubule-associated protein tau gene polymorphisms with risk of sporadic Alzheimer's disease: a meta-analysis.

  30329219   Association of polymorphisms marking MAPT haplotypes with cerebrospinal fluid biomarkers of Alzheimer's disease: a pilot study in a Croatian cohort.

  30708351   MAPT rs242557 variant is associated with hippocampus tau uptake on (18)F-AV-1451 PET in non-demented elders.

  31234228   Association of MAPT H1 subhaplotypes with neuropathology of lewy body disease.

  33635380   Latent trait modeling of tau neuropathology in progressive supranuclear palsy.

  33815092   Genetic variation in molecular pathways associated with Alzheimer's disease: a comprehensive review.