Title : Genetic polymorphism of sterol transporters in children with future gallstones.

Pub. Date : 2018 Sep

PMID : 29764733






2 Functional Relationships(s)
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1 PATIENTS AND METHODS: In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126). Cholesterol NPC1 like intracellular cholesterol transporter 1 Homo sapiens
2 Gallstone subjects with alleles CC of rs41279633 and TT of rs217434 of NPC1L1 had ~18% lower campesterol/cholesterol-ratio compared to mutation carriers. Cholesterol NPC1 like intracellular cholesterol transporter 1 Homo sapiens