MAPT

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Full namemicrotubule-associated protein tau
EntrezGene4137
PheGenI4137
VariationViewer4137
dbSNP4137
SADR4137
HugeNav4137
wikipediaMAPT
googleMAPT
gopubmedMAPT
EVSMAPT
HEFalMpMAPT
23andMeMAPT
UniProtP10636
EnsemblENSG00000186868
OMIM157140
EVSMAPT
# SNPs39
  Max Magnitude Chromosome position Summary
Rs1052553 0 44,073,889
Rs12938245 0 44,060,609
Rs1467967 43,986,179
Rs17650991 44,044,508
Rs17651507 44,059,010
Rs1800547 1 44,051,846
Rs1864325 0 43,977,827
Rs1981997 44,056,767
Rs199422218 0 44,087,739
Rs2258689 0 44,067,382
Rs242557 0 44,019,712
Rs242559 44,025,888
Rs242562 44,026,739
Rs2435207 44,058,928
Rs2471738 44,076,063
Rs3785883 44,054,433
Rs62063857 0 44,076,665
Rs63750092 0 44,091,643
Rs63750129 0 44,073,978
Rs63750349 0 44,074,004
Rs63750376 0 44,074,023
Rs63750424 0 44,101,427
Rs63750425 0 44,096,041
Rs63750512 0 44,101,376
Rs63750570 0 44,095,995
Rs63750635 0 44,091,652
Rs63750711 0 44,096,011
Rs63750756 0 44,087,690
Rs63750912 0 44,087,741
Rs63750959 0 44,039,717
Rs63750972 0 44,087,782
Rs63751165 0 44,087,767
Rs63751264 0 44,096,092
Rs63751273 0 44,087,755
Rs63751391 0 44,087,761
Rs63751438 0 44,087,754
Rs7521 44,105,395
Rs8070723 2.5 44,081,064
Rs9468 44,101,563


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]