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Article

Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.

Liver international : official journal of the International Association for the Study of the Liver - 1 Jul 2022

Krawczyk Marcin, Niewiadomska Olga, Jankowska Irena, Jankowski Krzysztof, Więckowski Sebastian, Lebensztejn Dariusz, Więcek Sabina, Gozdowska Jolanta, Kułaga Zbigniew, Weber Susanne N, Lütjohann Dieter, Lammert Frank, Socha Piotr

Abstract excerpt

INTRODUCTION: Gallstones are increasingly common in children. Genetic analyses of adult cohorts demonstrated that the sterol transporter ABCG8 p.D19H and Gilbert UGT1A1*28 variants enhance the odds of developing gallstones. The genetic background of common lithiasis in children remains unknown. METHODS: Overall, 214 children with gallstone disease (1 month-17 years, 107 boys) were inclueded. The control cohorts...

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PMID: 35129276
DOI: 10.1111/liv.15186

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