https://pubmed.ncbi.nlm.nih.gov/36084219/

J Pediatr Gastroenterol Nutr. 2022 Sep 8.
doi: 10.1097/MPG.0000000000003609.Online ahead of print.

The rs12532734 polymorphism near the solute carrier 26A3 gene locus is associated with gallstone disease in children

Marcin Krawczyk 1 2, Olga Niewiadomska 3, Irena Jankowska 3, Krzysztof Jankowski 4 5, Jolanta Świderska 6, Dariusz Lebensztejn 7, Sabina Więcek 8, Jolanta Gozdowska 9, Zbigniew Kułaga 10, Susanne N Weber 1, Frank Lammert 1 11, Piotr Socha 3
Affiliations expand
PMID: 36084219

DOI: 10.1097/MPG.0000000000003609

Abstract
Gallstones are increasingly frequent in children. In this candidate gene study we genotyped five gene variants (ANO1, SPTLC3, TMEM147, TNRC6B, rs12532734) from a recant gallstone 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 five 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). SLC26A3 is the nearest gene to rs12532734 polymorphism 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.