The rs2229611 (G6PC: c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

Franciele Cabral Pinheiro; Fernanda Sperb-Ludwig; Juliana Maria Fagundes Verch; Bruna Bento Dos Santos; Carolina Fischinger Moura de Souza; Ida Vanessa Doederlein Schwartz

doi:10.1016/j.ymgmr.2020.100659

The rs2229611 (G6PC: c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

Mol Genet Metab Rep. 2020 Oct 20:25:100659. doi: 10.1016/j.ymgmr.2020.100659. eCollection 2020 Dec.

Authors

Franciele Cabral Pinheiro^{1

2

3}, Fernanda Sperb-Ludwig^{1

2}, Juliana Maria Fagundes Verch^{2

4}, Bruna Bento Dos Santos¹, Carolina Fischinger Moura de Souza⁵, Ida Vanessa Doederlein Schwartz^{1

2

5}

Affiliations

¹ Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
² Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
³ Universidade Federal do Pampa (UNIPAMPA), Itaqui, RS, Brazil.
⁴ Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.
⁵ Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.

Abstract

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.

Keywords: GSD Ia; Genetic biomarker; Glycogenosis; Inborn error of metabolism; Linkage-disequilibrium.