Academic Journal
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database
| Title: | Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database |
|---|---|
| Authors: | Kyung Sun Park |
| Source: | Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100734- (2021) |
| Publisher Information: | Elsevier, 2021. |
| Publication Year: | 2021 |
| Collection: | LCC:Medicine (General) LCC:Biology (General) |
| Subject Terms: | Pompe disease, Population database, Carrier frequency, Genetic prevalence, Clinical severity, gnomAD, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| More Details: | 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 pathogenic or likely pathogenic variants (PLPVs) associated with classic infantile-onset Pompe disease. Total CF and pGP in the overall population were 1.3% (1 in 77) and 1:23,232, respectively. The highest pGP was observed in the East Asian population at 1:12,125, followed by Non-Finnish European (1:13,756), Ashkenazi Jewish (1:22,851), African/African-American (1:26,560), Latino/Admixed American (1:57,620), South Asian (1:93,087), and Finnish (1:1,056,444). Conclusions: Pompe disease has a higher pGP (1:23,232) than earlier accepted (1:40,000). The pGP for Pompe disease was expectedly wide by population and consistent with previous reports based on newborn screening programs (approximately 1:10,000–1:30,000). |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426921000288; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2021.100734 |
| Access URL: | https://doaj.org/article/7636eb231dab4581bc891795b4a8d4c8 |
| Accession Number: | edsdoj.7636eb231dab4581bc891795b4a8d4c8 |
| Database: | Directory of Open Access Journals |
| ISSN: | 22144269 |
|---|---|
| DOI: | 10.1016/j.ymgmr.2021.100734 |
| Published in: | Molecular Genetics and Metabolism Reports |
| Language: | English |