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MAPT

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Full namemicrotubule-associated protein tau
EntrezGene4137
PheGenI4137
VariationViewer4137
ClinVarMAPT
dbSNP4137
SADR4137
HugeNav4137
wikipediaMAPT
googleMAPT
gopubmedMAPT
EVSMAPT
HEFalMpMAPT
23andMeMAPT
UniProtP10636
EnsemblENSG00000186868
OMIM157140
EVSMAPT
# SNPs39
  Max Magnitude Chromosome position Summary
Rs1052553 0 45,996,523
Rs12938245 0 45,983,243
Rs1467967 45,908,813
Rs17650991 45,967,142
Rs17651507 45,981,644
Rs1800547 1 45,974,480
Rs1864325 0 45,900,461
Rs1981997 45,979,401
Rs199422218 0 46,010,373
Rs2258689 0 45,990,016
Rs242557 0 45,942,346
Rs242559 45,948,522
Rs242562 45,949,373
Rs2435207 45,981,562
Rs2471738 45,998,697
Rs3785883 45,977,067
Rs62063857 0 45,999,299
Rs63750092 0 46,014,277
Rs63750129 0 45,996,612
Rs63750349 0 45,996,638
Rs63750376 0 45,996,657
Rs63750424 0 46,024,061
Rs63750425 0 46,018,675
Rs63750512 0 46,024,010
Rs63750570 0 46,018,629
Rs63750635 0 46,014,286
Rs63750711 0 46,018,645
Rs63750756 0 46,010,324
Rs63750912 0 46,010,375
Rs63750959 0 45,962,351
Rs63750972 0 46,010,416
Rs63751165 0 46,010,401
Rs63751264 0 46,018,726
Rs63751273 0 46,010,389
Rs63751391 0 46,010,395
Rs63751438 0 46,010,388
Rs7521 46,028,029
Rs8070723 2.5 46,003,698
Rs9468 46,024,197


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]