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.

中文翻译：

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rs2229611（G6PC： c。* 23 T> C）与巴西患者的Ia型糖原贮积病相关

G6PC基因的3'UTR区域中的rs2229611 SNP（G6PC：c。* 23T> C）影响葡萄糖-6-磷酸酶mRNA的稳定性，并且在糖原病Ia（GSD Ia）患者中以更高的频率发生。一些人群。在此， 通过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 SNP之间的连锁不平衡（LD）。结果表明，rs2229611：T> C与GSD Ia相关，并且在巴西GSD Ia患者中，LD具有最常见的致病变异。