Article
Cholesterol 7alpha-hydrolase (CYP7A1) c.-278A>C promoter polymorphism in gallstone disease patients.
Genetic testing - 1 Mar 2008
Juzyszyn Zygmunt, Kurzawski Mateusz, Lener Agnieszka, Modrzejewski Andrzej, Pawlik Andrzej, Droździk Marek
Abstract excerpt
There is growing evidence that gallstone formation may be genetically determined. Cholesterol 7alpha-hydrolase (CYP7A1) is an enzyme that catalyzes the first, rate-limiting reaction of cholesterol catabolic pathway. Recently, a common c.-278A>C polymorphism (rs3808607:G>T) has been described in CYP7A1 gene, associated with altered plasma lipid levels. The aim of this study was to verify the finding that CYP7A1...
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