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

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

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 th...

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Veröffentlicht in:Molecular genetics and metabolism reports 2020-12, Vol.25, p.100659-100659, Article 100659
Hauptverfasser: Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Fagundes Verch, Juliana Maria, dos Santos, Bruna Bento, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein
Format: Artikel
Sprache:eng
Schlagworte:
Genetic biomarker
Glycogenosis
GSD Ia
Inborn error of metabolism
Linkage-disequilibrium
Short Communication
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Zusammenfassung: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.
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2020.100659