MAPT

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is mentioned by
Full namemicrotubule-associated protein tau
EntrezGene4137
PheGenI4137
VariationViewer4137
ClinVarMAPT
dbSNP4137
SADR4137
HugeNav4137
wikipediaMAPT
googleMAPT
gopubmedMAPT
EVSMAPT
HEFalMpMAPT
23andMeMAPT
UniProtP10636
EnsemblENSG00000186868
OMIM157140
EVSMAPT
# SNPs39
 Max MagnitudeChromosome positionSummary
Rs1052553045,996,523
Rs12938245045,983,243
Rs146796745,908,813
Rs1765099145,967,142
Rs1765150745,981,644
Rs1800547145,974,480
Rs1864325045,900,461
Rs198199745,979,401
Rs199422218046,010,373
Rs2258689045,990,016
Rs242557045,942,346
Rs24255945,948,522
Rs24256245,949,373
Rs243520745,981,562
Rs247173845,998,697
Rs378588345,977,067
Rs62063857045,999,299
Rs63750092046,014,277
Rs63750129045,996,612
Rs63750349045,996,638
Rs63750376045,996,657
Rs63750424046,024,061
Rs63750425046,018,675
Rs63750512046,024,010
Rs63750570046,018,629
Rs63750635046,014,286
Rs63750711046,018,645
Rs63750756046,010,324
Rs63750912046,010,375
Rs63750959045,962,351
Rs63750972046,010,416
Rs63751165046,010,401
Rs63751264046,018,726
Rs63751273046,010,389
Rs63751391046,010,395
Rs63751438046,010,388
Rs752146,028,029
Rs80707232.546,003,698
Rs946846,024,197


Located on chromosome 17, the microtubule-associated protein tau gene, MAPT, encodes the tau proteins found in humans primarily in neurons and best known medically for their role in CNS disorders such as Alzheimer's disease. There are six main forms ("isoforms") of tau proteins, produced by alternative splicing of the MAPT gene.Wikipedia

An inversion polymorphism arising about 3 million years ago of approximately 900kb on chromosome 17q21 and including the MAPT gene defines two haplotype clades, H1 and H2.[PMID 15654335] Since that time, the H1 and H2 haplotypes have been recombinationally suppressed and have accumulated sequence variations. As a result, any one of a large number of SNPs within the 900kb can be genotyped to distinguish the two haplotypes. In general, H2 haplotypes are rare in Africans, almost absent in East Asians but found at a frequency of 20% in Europeans.

An example of a SNP defining H1-H2 haplotypes is rs1800547; the rs1800547(A) allele is associated with the H1 haplotype, whereas the rs1800547(G) allele defines the H2 haplotype.

Studies have linked the MAPT H1/H1 diplotype to increased risk for certain neuropathologies. For example, a 2007 study of 1,000+ patients with Parkinson's disease found a significant association between the H1/H1 genotype and risk of disease (OR 1.46, CI: 1.25-1.69, p = 8 x 10e-7).[PMID 17514749]

It is now known that further variations within each haplotype (clade) define subhaplotypes (subclades), and for some disorders, risk differs between subclades. For example, the H1c subhaplotype of MAPT was associated with increased risk for Alzheimer's disease in 360 autopsy-confirmed cases.[PMID 16000317]

Mutations within the MAPT gene have also been linked to frontotemporal dementia and Pick's disease.