Pinheiro Franciele Cabral, Sperb-Ludwig Fernanda, Fagundes Verch Juliana Maria, Dos Santos Bruna Bento, de Souza Carolina Fischinger Moura, Schwartz Ida Vanessa Doederlein
Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
Mol Genet Metab Rep. 2020 Oct 20;25:100659. doi: 10.1016/j.ymgmr.2020.100659. eCollection 2020 Dec.
The rs2229611 SNP (:c.*23T>C) in the 3'UTR region of the 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 ( = 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.
该基因3'UTR区域中的rs2229611单核苷酸多态性（:c.*23T>C）影响葡萄糖-6-磷酸酶mRNA的稳定性，在某些人群的糖原贮积病Ia型（GSD Ia）患者中出现频率较高。在此，通过二代测序（NGS）分析了一组巴西患者（n = 116），并确定了rs2229611:T>C的频率。评估了致病变异与rs2229611:T>C单核苷酸多态性之间的连锁不平衡（LD）。结果表明，rs2229611:T>C与GSD Ia相关，并且与巴西GSD Ia患者中最常见的致病变异处于连锁不平衡状态。
