Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
Mol Biol Rep
; 48(4): 3841-3844, 2021 Apr.
Article
in En
| MEDLINE
| ID: mdl-33948853
ABSTRACT
Primary hyperoxaluria type-III is a disorder of glyoxylate metabolism, caused by pathogenic variants in the HOGA1 gene. To date more than 50 disease-associated pathogenic sequence variants are identified in the gene. A few of the variants are population specific and are considered to have a founder effect in respective populations. The most prevalent variant, c.700+5G>T, identified frequently in Caucasian (allele frequency 0.63) and European (0.35) populations. Two variants, c.860G>T (p.Gly287Val) and c.944_946delAGG (p.Glu315del), account for 95% of the allele count in patients of Ashkenazi Jews ancestry. A possible mutational hot-spot at c.834 position is frequently found mutated in Chinese patients. This observed ethnic associations of HOGA1 alleles span a spectrum ranging from recurrence limited to an ethnic group to a possible founder-effect.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Polymorphism, Genetic
/
Hyperoxaluria, Primary
/
Oxo-Acid-Lyases
Type of study:
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Mol Biol Rep
Year:
2021
Type:
Article
Affiliation country:
Pakistan