title: CYP7A1 gene polymorphism located in the 5' upstream region modifies the risk of coronary artery disease.
abstract: BACKGROUND
  7-Alpha cholesterol hydroxylase (CYP7A1), the first enzyme of classic conversion pathway leading from cholesterol to bile acids synthesis, is encoded by CYP7A1 gene. Its single nucleotide polymorphisms (SNPs) influence serum lipid levels and may be related to impaired lipid profile leading to coronary artery disease (CAD). The aim of the present study was to analyze the possible association between the rs7833904 CYP7A1 polymorphism and premature CAD.
  
  
  METHODS
  Serum lipid levels and rs7833904 SNP were determined in 419 subjects: 200 patients with premature CAD and 219 age and sex matched controls.
  
  
  RESULTS
  The A allele carrier state was associated with CAD (OR = 1.76, 95% CI; 1.14-2.71, P = 0.014). The effect was even stronger in the male subgroups (OR = 2.16, 95% CI; 1.28-3.65, P = 0.003). There was no effect in the females. Risk factors of CAD and clinical phenotype of atherosclerosis were not associated with genotype variants of the rs7833904 SNP. Lipid profiles also did not differ significantly between individual genotypes.
  
  
  CONCLUSIONS
  The CYP7A1 rs7833904 polymorphism may modify the risk of CAD. This effect is especially strong in male subjects. The studied polymorphism does not significantly influence serum lipid levels, in the present study.
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Department of Biochemistry and Medical Genetics, Medykow Street 18, 40-752 Katowice, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Iwanicki
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Department of Biochemistry and Medical Genetics, Medykow Street 18, 40-752 Katowice, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Balcerzyk
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Department of Biochemistry and Medical Genetics, Medykow Street 18, 40-752 Katowice, Poland.
authors.forename: Pawel
authors.initials: P
authors.lastname: Niemiec
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Department of Biochemistry and Medical Genetics, Medykow Street 18, 40-752 Katowice, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Nowak
authors.affiliation: Regional Centre of Blood Donation and Blood Treatment in Raciborz, Sienkiewicza Street 3, 47-400 Raciborz, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Ochalska-Tyka
authors.affiliation: School of Medicine in Katowice, Medical University of Silesia, 1st Department of Cardiac Surgery in Upper Silesian Center of Cardiology in Katowice, Ziolowa Street 47, 40-635 Katowice, Poland.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Krauze
authors.affiliation: School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Department of Internal Medicine, Diabetes and Nephrology, 3 Maja Street 13-18, 41-800 Zabrze, Poland.
authors.forename: Sylwia
authors.initials: S
authors.lastname: Kosiorz-Gorczynska
authors.affiliation: School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Department of Internal Medicine, Diabetes and Nephrology, 3 Maja Street 13-18, 41-800 Zabrze, Poland.
authors.forename: Wladyslaw
authors.initials: W
authors.lastname: Grzeszczak
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Department of Biochemistry and Medical Genetics, Medykow Street 18, 40-752 Katowice, Poland.
authors.forename: Iwona
authors.initials: I
authors.lastname: Zak
mesh_terms: D020121:5' Untranslated Regions; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002790:Cholesterol 7-alpha-Hydroxylase / Q000235:genetics*; D003324:Coronary Artery Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D020121:5' Untranslated Regions; D008055:Lipids; C553219:CYP7A1 protein, human; D002790:Cholesterol 7-alpha-Hydroxylase