| Autor: |
Krawczyk, Marcin, Niewiadomska, Olga, Jankowska, Irena, Jankowski, Krzysztof, Swiderska, Jolanta, Lebensztejn, Dariusz, Wiecek, Sabina, Gozdowska, Jolanta, Kulaga, Zbigniew, Weber, Susanne N., Lammert, Frank, Socha, Piotr |
| Zdroj: |
Journal of Pediatric Gastroenterology & Nutrition; December 2022, Vol. 75 Issue: 6 p692-694, 3p |
| Abstrakt: |
Gallstones are increasingly frequent in children. In this candidate gene study, we genotyped 5 gene variants (ANO1, SPTLC3, TMEM147, TNRC6B, rs12532734) from a recent gallstone genome-wide association study (GWAS) in a cohort of 214 children with gallstones and 172 gallstone-free adult controls. In total, 138 genotyped children presented with symptomatic gallstone disease, 47 underwent cholecystectomy, and 126 received ursodeoxycholic acid (UDCA) as therapy for stones. Among 5 tested variants, the rs12532734 polymorphism modulated the gallstone risk in the studied cohort. Its genotype distribution significantly (P= 0.025) departed from the Hardy-Weinberg equilibrium among cases, and the common allele was associated with increased odds of developing gallstones at young age (OR = 1.69, P= 0.014). SLC26A3is the nearest gene to rs12532734 and is involved in the transepithelial bicarbonate and chloride transport. The association of rs12532734 with pediatric gallstones is a novel finding warranting further investigations also with regard to biliary bicarbonate flux and bile composition. |
| Databáze: |
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