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

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.

SUBMITTER: Pinheiro FC 

PROVIDER: S-EPMC7576508 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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

Pinheiro Franciele Cabral FC   Sperb-Ludwig Fernanda F   Fagundes Verch Juliana Maria JM   Dos Santos Bruna Bento BB   de Souza Carolina Fischinger Moura CFM   Schwartz Ida Vanessa Doederlein IVD  

Molecular genetics and metabolism reports 20201020

The rs2229611 SNP (<i>G6PC</i>:c.*23T>C) in the 3'UTR region of the <i>G6PC</i> 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 (<i>n</i> = 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 rs222961  ...[more]

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