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

Marcin KrawczykOlga NiewiadomskaIrena JankowskaKrzysztof JankowskiSebastian WięckowskiDariusz LebensztejnSabina WięcekJolanta GozdowskaZbigniew KułagaSusanne N Weber Dieter Lütjohann Frank LammertPiotr Socha

Published in: Liver international : official journal of the International Association for the Study of the Liver (2022)

The p.D19H ABCG8 and, to a lesser extent, NPC1L1 rs217434 variants increase the risk of early-onset gallstone formation. These results point to the presence of a common lithogenic pathway in children and adults.

Keyphrases

early onset
young adults
late onset
copy number
dna methylation