Abstract
The promoter sequence variant -278A in the CYP7 gene, which encodes cholesterol 7-α 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.
Keywords
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Article info
Publication history
Accepted:
February 14,
2000
Received in revised form:
January 27,
2000
Received:
September 10,
1999
Identification
Copyright
© 2001 Elsevier Science Ireland Ltd. Published by Elsevier Inc. All rights reserved.
