The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children. Issue 6 (8th September 2022)

• Record Type: Journal Article
• Authors: Krawczyk, Marcin; Niewiadomska, Olga; Jankowska, Irena; Jankowski, Krzysztof; Świderska, Jolanta; Lebensztejn, Dariusz; Więcek, Sabina; Gozdowska, Jolanta; Kułaga, Zbigniew; Weber, Susanne N.; Lammert, Frank; Socha, Piotr
• Is Part Of: Journal of pediatric gastroenterology and nutrition. Volume 75:Issue 6(2022)
• Page Start: 692
• Page End: 694
• Publication Date: 2022-09-08
• Subjects: cholelithiasis -- gallbladder -- gallstones; Children -- Nutrition -- Periodicals; Pediatric gastroenterology -- Periodicals; Infants -- Nutrition -- Periodicals; Nutrition disorders in children -- Periodicals; Child Nutrition -- Periodicals; Digestive System -- growth & development -- Periodicals; Gastrointestinal Diseases -- Periodicals; Infant Nutrition -- Periodicals; Nutrition Disorders -- Periodicals; Child; 618.923
• DOI: 10.1097/MPG.0000000000003609
• Languages: English
• ISSNs: 0277-2116

Abstract

Abstract : 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). SLC26A3 is 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.