Mutations

PSEN1 c.*947G>A

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype:
Reference Assembly: GRCh37 (105)
Position: Chr14:73686944 G>A
dbSNP ID: rs7523
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: 3' UTR

Findings

This common variant was reported as being associated with the thickness of cortical regions typically affected by Alzheimer’s disease (Seo et al., 2020). The study examined 274 cognitively normal adults 55 years or older, 137 individuals with mild cognitive impairment, and 94 patients with AD dementia from the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer’s disease (KBASE). MRI imaging revealed reduced thickness in the inferior frontal and orbitofrontal cortices, as well as in the basal ganglia of non-carriers compared with those of carriers (P = 2.5 × 10−5, k = 1497). The odds ratio of the association was 0.39 (95 percent CI, 0.25–0.60; P = 1.7 × 10−5).

The frequency of this variant in the KBASE cohort is 0.161, similar to that found worldwide (0.154, gnomAD v2.1.1 [non-neuro], Nov 2020).

Last Updated: 01 Dec 2020

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References

Paper Citations

  1. . Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. Alzheimers Res Ther. 2020 Nov 19;12(1):156. PubMed.

External Citations

  1. gnomAD v2.1.1 [non-neuro]

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. Alzheimers Res Ther. 2020 Nov 19;12(1):156. PubMed.

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