The following is a summary of “The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children” published in the December 2022 issue of Pediatric Gastroenterology and Nutrition by Krawczyk et al.

Children are being diagnosed with gallstones at an alarmingly high rate. In this candidate gene analysis, researchers genotyped 5 gene variants from a previous gallstone genome-wide association study (GWAS) in a cohort of 214 children with gallstones and 172 gallstone-free adult controls. These gene variants were ANO1, SPTLC3, TMEM147, TNRC6B, and rs12532734. 

In total, 138 children who had been genotyped were found to have symptomatic gallstone disease; 47n required cholecystectomy, and 126 were treated with ursodeoxycholic acid (UDCA) for their stones. The rs12532734 polymorphism, which was 1 of 5 variants evaluated, was the 1 that modified the gallstone risk in the population that was analyzed. 

Its genotype distribution considerably deviated from the Hardy-Weinberg equilibrium among cases, as indicated by the value of P equal to 0.025, and the common allele was associated with an increased likelihood of having gallstones at a young age, as indicated by an OR of 1.69 and a P value of 0.014. SLC26A3 is the nearest gene to rs12532734 and is involved in transepithelial bicarbonate and chloride transport. A novel discovery, the link between rs12532734 and pediatric gallstones, calls for further research to be conducted, not only with regard to biliary bicarbonate flux but also with regard to bile composition.