Boris Zagradisnik , Katarina Bracic , Natasa Marcun Varda , Nadja Kokalj Vokac , Alojz Gregoric
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引用次数: 6
摘要
编码异源三聚体g蛋白β3亚基的GNB3基因的C825T多态性与g蛋白活性的变化密切相关。迄今为止,它已被证实与多种疾病有关,但尚未被证实与膀胱输尿管反流(VUR)有关。原发性VUR是一种遗传起源的条件,似乎是遗传在常染色体显性模式,但降低外显率。与C825T多态性相关的g蛋白介导的细胞信号的结构改变可能是通过修饰未知突变基因的作用参与VUR发生的因素之一。原发VUR患者(33例CC纯合子、40例CT杂合子、12例TT纯合子)与无反流病史的健康对照组(114例CC纯合子、88例CT杂合子、18例TT纯合子)的基因型频率差异有统计学意义(χ2 = 7.38, P = 0.025, df = 2)。提示GNB3基因C825T多态性可能与VUR的发生有关。
G-protein β3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux
The C825T polymorphism in the GNB3 gene encoding a β3 subunit from heterotrimeric G-proteins correlates strongly with the variation in activity of the G-proteins. It has so far been associated with a variety of medical conditions, but has not been tested for association with vesico-ureteric reflux (VUR). Primary VUR is a condition of genetic origin that appears to be inherited in an autosomal dominant mode, but with reduced penetrance. The constitutional change in G-protein-mediated cell signaling associated with the C825T polymorphism might be one of the factors that participate in the development of VUR by modifying the effect of still unknown mutated gene(s). A significant difference in genotype frequencies (χ2 = 7.38, P = 0.025, df = 2) was observed between patients with primary VUR (33 CC homozygotes, 40 CT heterozygotes, 12 TT homozygotes) and healthy controls with no medical record of reflux (114 CC homozygotes, 88 CT heterozygotes, 18 TT homozygotes). This result suggests that the C825T polymorphism of the GNB3 gene might be associated with the development of VUR.