Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

ABSTRACT:

Background

The genetic prevalence of Pompe disease was estimated based on the proportion of individuals who have a causative genotype in a general population database. In addition, clinical severity for causative genotypes was assessed based on currently available locus-specific databases (LSDBs), which contain information on both genotype and clinical severity.

Methods

Genetic variants in the GAA gene in the Genome Aggregation Database (gnomAD) (v2.1.1) were analyzed in combination with LSDBs of ClinVar, ClinGen Evidence Repository, Pompe disease GAA variant database, and the Pompe Registry. Carrier frequency (CF) and predicted genetic prevalence (pGP) were estimated.

Results

Of 7 populations, East Asian and African showed higher proportions of pathogen

SUBMITTER: Park KS 

PROVIDER: S-EPMC7933537 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature