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

Authors :: Pinheiro FC
Sperb-Ludwig F
Fagundes Verch JM
Dos Santos BB
de Souza CFM
Schwartz IVD
Source :: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Oct 20; Vol. 25, pp. 100659. Date of Electronic Publication: 2020 Oct 20 (Print Publication: 2020).
Publication Year :: 2020
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.<br />Competing Interests: None.<br /> (© 2020 The Authors.)

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