The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children.
J Pediatr Gastroenterol Nutr
; 75(6): 692-694, 2022 12 01.
Article
em En
| MEDLINE
| ID: mdl-36084219
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cálculos Biliares
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Antiportadores de Cloreto-Bicarbonato
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Estudo de Associação Genômica Ampla
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Transportadores de Sulfato
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Child
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Humans
Idioma:
En
Revista:
J Pediatr Gastroenterol Nutr
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Alemanha