rs1052553

This is a synonymous variant in the MAPT gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

type 1 diabetes mellitus

Robertson CC et al. “Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.” Nature Genetics 53(7):962-971 (2021)

Allele G

OR 0.88

p 2.0e-15

N 59,527

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

12 submitters3 publications

Frontotemporal dementia (FTD1); MAPT-Related Spectrum Disorders; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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

AssociationN=9,463Elbaz A. et al.(2011)· Annals of Neurology

This large case-control study of 5,302 Parkinson's disease cases and 4,161 controls from 15 sites examined the independent and joint effects of SNCA and MAPT genes. Four SNCA SNPs (rs2583988, rs181489, rs356219, rs11931074) and two MAPT SNPs (rs1052553, rs242557) were all significantly associated with PD risk, with SNCA variants at the 3' end showing the strongest associations. Notably, no evidence of statistical interaction was found between SNCA and MAPT SNPs on either multiplicative or additive scales, despite their independent contributions to PD susceptibility.

Traits studied:Parkinson's disease

PubMed DOI Metascience Observatory

About MAPT

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]