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Variable association between genetic variation in the CYP7 gene promoter and plasma lipoproteins in three Canadian populations. 2001

R A Hegele, and J Wang, and S B Harris, and J H Brunt, and T K Young, and A J Hanley, and B Zinman, and P W Connelly, and C M Anderson
Department of Medicine, Blackburn Cardiovascular Genetics Laboratory, John P. Robarts Research Institute, University of Western Ontario, 406-100 Perth Drive, Ont., N6A 5K8, London, Canada. robert.hegele@rri.on.ca

The promoter sequence variant -278A in the CYP7 gene, which encodes cholesterol 7-alpha hydroxylase, was previously reported to be associated with reduced plasma low density lipoprotein (LDL) cholesterol concentration. We tested for association of CYP7-278A with plasma lipoprotein traits in samples taken from three distinct Canadian populations: 594 Alberta Hutterites, 325 Ontario Oji-Cree and 190 Keewatin Inuit. The CYP7-278A allele frequencies in these three groups were 0.708, 0.466 and 0.490, respectively. The frequencies of CYP7-278A/A homozygotes were 0.481, 0.215 and 0.247, respectively. In the Hutterites, CYP7-278A was associated with reduced plasma HDL-cholesterol and apolipoprotein AI concentration. In the Oji-Cree, CYP7-278A was not significantly associated with any plasma lipoprotein trait. In the Inuit CYP7-278A was associated with elevated plasma total and LDL-cholesterol. There was no consistent relationship between the population mean plasma LDL-cholesterol concentration and the population CYP7-278A frequency. Our findings suggest that the common -278A promoter variant of CYP7 was inconsistently associated with variation in plasma LDL- and HDL-cholesterol in samples from three independent populations. The inconsistencies could be due to differences in genetic background or to unspecified environmental or genetic factors.

UI MeSH Term Description Entries
D007198 Indians, North American Members of indigenous North American populations with pre-colonial contact origins. Amerinds, North American,Indigenous North Americans,American Indian, North,American, Indigenous North,Amerind, North American,Indian, North American,Indigenous North American,North American Amerind,North American Amerinds,North American Indian,North American Indians,North American, Indigenous
D008074 Lipoproteins Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes. Circulating Lipoproteins,Lipoprotein,Lipoproteins, Circulating
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011401 Promoter Regions, Genetic DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes. rRNA Promoter,Early Promoters, Genetic,Late Promoters, Genetic,Middle Promoters, Genetic,Promoter Regions,Promoter, Genetic,Promotor Regions,Promotor, Genetic,Pseudopromoter, Genetic,Early Promoter, Genetic,Genetic Late Promoter,Genetic Middle Promoters,Genetic Promoter,Genetic Promoter Region,Genetic Promoter Regions,Genetic Promoters,Genetic Promotor,Genetic Promotors,Genetic Pseudopromoter,Genetic Pseudopromoters,Late Promoter, Genetic,Middle Promoter, Genetic,Promoter Region,Promoter Region, Genetic,Promoter, Genetic Early,Promoter, rRNA,Promoters, Genetic,Promoters, Genetic Middle,Promoters, rRNA,Promotor Region,Promotors, Genetic,Pseudopromoters, Genetic,Region, Genetic Promoter,Region, Promoter,Region, Promotor,Regions, Genetic Promoter,Regions, Promoter,Regions, Promotor,rRNA Promoters
D002170 Canada The largest country in North America, comprising 10 provinces and three territories. Its capital is Ottawa.
D002790 Cholesterol 7-alpha-Hydroxylase A membrane-bound cytochrome P450 enzyme that catalyzes the 7-alpha-hydroxylation of CHOLESTEROL in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP7, converts cholesterol to 7-alpha-hydroxycholesterol which is the first and rate-limiting step in the synthesis of BILE ACIDS. CYP7,CYP7A,Cytochrome P-450 CYP7,CYP 7,CYP 7A,Cholesterol 7-alpha-Monooxygenase,Cholesterol 7alpha-Hydroxylase,Cholesterol-7-Hydroxylase,Cytochrome P450 7,Cholesterol 7 Hydroxylase,Cholesterol 7 alpha Hydroxylase,Cholesterol 7 alpha Monooxygenase,Cholesterol 7alpha Hydroxylase,Cytochrome P 450 CYP7
D004930 Inuit Inuktitut-speakers generally associated with the northern polar region. Aleuts,Eskimos,Inuits,Inuk,Inupiats,Kalaallits,Aleut,Eskimo,Inupiat,Kalaallit
D005006 Ethnicity A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. Ethnic Groups,Nationality,Ethnic Group,Nationalities

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