Bronský J, Jirsa M, Nevoral J, Hrebícek M
Charles University in Prague: Second Faculty of Medicine and University Hospital Motol, Department of Paediatrics, Prague, Czech Republic.
Folia Biol (Praha). 2010;56(1):9-13.
Variations in genes encoding canalicular transportes, for biliary lipids may affect concentrations of biliary lipids in bile and promote cholesterol crystallization and gallstone formation. In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease. Genotyping was performed in 35 paediatric subjects with idiopathic gallstones with positive family history for gallstones and 150 population controls. The ABCB4 variant p.Thr175Ala was found only in the controls, not in the patients. The frequency of the remaining three variant alleles and the corresponding genotypes did not differ between patients and controls. We conclude that the studied common variations in genes encoding canalicular transporters known to contribute to genetic predisposition to cholesterol gallstones in adulthood do not contribute specifically to the aetiology of paediatric idiopathic gallstones.
编码胆小管转运体的基因变异可能会影响胆汁中胆脂的浓度，并促进胆固醇结晶和胆结石形成。在我们的研究中，我们调查了成人中被认为是潜在致病或易患等位基因的常见变异（ABCB4中的c.523A>G（p.Thr175Ala）和c.1954A>G（p.Arg652Gly）、ABCB11中的c.1331T>C（p.Val444Ala）以及ABCG8中的c.55 G>C（p.Asp19His））杂合性对小儿特发性胆结石病病因的影响。对35名有特发性胆结石且有胆结石家族史阳性的小儿患者和150名人群对照进行了基因分型。ABCB4变异体p.Thr175Ala仅在对照组中发现，患者中未发现。其余三个变异等位基因及其相应基因型的频率在患者和对照组之间没有差异。我们得出结论，已知在成年期对胆固醇胆结石遗传易感性有贡献的编码胆小管转运体的基因常见变异，对小儿特发性胆结石的病因没有特异性贡献。
