MAPT

From SNPedia
Jump to: navigation, search

is agene
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
Rs105255345,996,523
Rs1293824545,983,243
Rs146796745,908,813
Rs1765099145,967,142
Rs1765150745,981,644
Rs180054745,974,480
Rs186432545,900,461
Rs198199745,979,401
Rs19942221846,010,373
Rs225868945,990,016
Rs24255745,942,346
Rs24255945,948,522
Rs24256245,949,373
Rs243520745,981,562
Rs247173845,998,697
Rs378588345,977,067
Rs6206385745,999,299
Rs6375009246,014,277
Rs6375012945,996,612
Rs6375034945,996,638
Rs6375037645,996,657
Rs6375042446,024,061
Rs6375042546,018,675
Rs6375051246,024,010
Rs6375057046,018,629
Rs6375063546,014,286
Rs6375071146,018,645
Rs6375075646,010,324
Rs6375091246,010,375
Rs6375095945,962,351
Rs6375097246,010,416
Rs6375116546,010,401
Rs6375126446,018,726
Rs6375127346,010,389
Rs6375139146,010,395
Rs6375143846,010,388
Rs752146,028,029
Rs807072346,003,698
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.