Short Communication: HepatologyThe rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in ChildrenKrawczyk, Marcin MD, PhD*,†; Niewiadomska, Olga MD‡; Jankowska, Irena MD, PhD‡; Jankowski, Krzysztof MD, PhD§,‖; Świderska, Jolanta MD¶; Lebensztejn, Dariusz MD, PhD#; Więcek, Sabina MD, PhD**; Gozdowska, Jolanta MD, PhD††; Kułaga, Zbigniew MD, PhD‡‡; Weber, Susanne N. PhD*; Lammert, Frank MD, PhD*,§§; Socha, Piotr MD, PhD‡ Author Information From the *Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany the †Laboratory of Metabolic Liver Diseases, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland the ‡Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children’s Memorial Health Institute, Warsaw, Poland the §Department of Internal Medicine and Cardiology, Medical University of Warsaw, Warsaw, Poland the ‖Department of Social Medicine and Public Health, Medical University of Warsaw, Warsaw, Poland the ¶Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, Warsaw, Poland the #Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland the **Department of Pediatrics, Medical University of Silesia, Katowice, Poland the ††Department of Transplantation Medicine and Nephrology, Medical University of Warsaw, Warsaw, Poland the ‡‡Public Health Department of the Children’s Memorial Health Institute, Warsaw, Poland the §§Hannover Health Science Campus, Hannover Medical School (MHH), Hannover, Germany. Received May 1, 2022; accepted August 29, 2022. The authors report no conflicts of interest. Informed consent was obtained from all patients and controls, and the study protocol follows the ethical guidelines of the declaration of Helsinki as reflected in an a priori approval by the Ethic Committee of the Children’s Memorial Health Institute in Warsaw (approval number: 39/KBE/2012). Patient data are part of the relevant minimal data set. The data of all patients who consented to share the data with other researchers are available upon request from the corresponding author. Address correspondence and reprint requests to Marcin Krawczyk, Department of Medicine II, Saarland University Medical Center, Saarland University, Kirrberger Str. 100, 66421 Homburg, Germany (e-mail: [email protected]); Piotr Socha, Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland (e-mail: [email protected]). Journal of Pediatric Gastroenterology and Nutrition: December 2022 - Volume 75 - Issue 6 - p 692-694 doi: 10.1097/MPG.0000000000003609 Buy Metrics 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. Copyright © 2022 by European Society for European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.