title: Cholesterol 7alpha-hydrolase (CYP7A1) c.-278A>C promoter polymorphism in gallstone disease patients.
abstract: 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 polymorphism may be associated with gallstone disease. Frequency and distribution of the studied alleles did not differ significantly between the patients (-278C; minor allele frequency: 0.45) and the controls (0.48). No significant gender-related differences of allele frequencies or distribution were noted. We conclude that CYP7A1 promoter polymorphism is not a valuable marker of gallstone disease susceptibility in a Polish population.
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Zygmunt
authors.initials: Z
authors.lastname: Juzyszyn
authors.forename: Mateusz
authors.initials: M
authors.lastname: Kurzawski
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Lener
authors.forename: Andrzej
authors.initials: A
authors.lastname: Modrzejewski
authors.forename: Andrzej
authors.initials: A
authors.lastname: Pawlik
authors.forename: Marek
authors.initials: M
authors.lastname: Droździk
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002790:Cholesterol 7-alpha-Hydroxylase / Q000235:genetics*; D005260:Female; D042882:Gallstones / Q000201:enzymology* / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D002790:Cholesterol 7-alpha-Hydroxylase