The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.
Mol Genet Metab Rep
; 25: 100659, 2020 Dec.
Article
em En
| MEDLINE
| ID: mdl-33101979
The rs2229611 SNP (G6PC:c.*23T>C) in the 3'UTR region of the G6PC gene affects the stability of the glucose-6-phosphatase mRNA and occurs in a higher frequency in patients with glycogenosis Ia (GSD Ia) in some populations. Herein, a group of Brazilian patients (n = 116) was analyzed by NGS and the frequency of rs2229611:T>C was determined. The linkage disequilibrium (LD) between pathogenic variants and the rs2229611:T>C SNP was evaluated. The results showed that the rs2229611:T>C is associated to GSD Ia and is in LD with the most frequent pathogenic variants in Brazilian patients with GSD Ia.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Risk_factors_studies
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Mol Genet Metab Rep
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Estados Unidos