genotype at the p554l variant of the hexose-6 phosphate dehydrogenase gene is associated with carotid intima-medial thickness基因型在p554l hexose-6磷酸脱氢酶基因的变异与颈动脉intima-medial厚度有关.pdfVIP
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genotype at the p554l variant of the hexose-6 phosphate dehydrogenase gene is associated with carotid intima-medial thickness基因型在p554l hexose-6磷酸脱氢酶基因的变异与颈动脉intima-medial厚度有关
Genotype at the P554L Variant of the Hexose-6
Phosphate Dehydrogenase Gene Is Associated with
Carotid Intima-Medial Thickness
1 2 3 1 4
Thahira J. Rahman , Elizabeth A. Walker , Bongani M. Mayosi , Darroch H. Hall , Peter J. Avery ,
5 6 2 1
John M. C. Connell , Hugh Watkins , Paul M. Stewart , Bernard Keavney *
1 Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom, 2 Department of Medicine, University of Birmingham, Birmingham, United
Kingdom, 3 Department of Medicine, University of Cape Town, Cape Town, South Africa, 4 School of Mathematics and Statistics, Newcastle University, Newcastle upon
Tyne, United Kingdom, 5 Department of Medicine, University of Dundee, Dundee, United Kingdom, 6 Department of Cardiovascular Medicine, Oxford University, Oxford,
United Kingdom
Abstract
Objective: The combined thickness of the intima and media of the carotid artery (carotid intima-medial thickness, CIMT) is
associated with cardiovascular disease and stroke. Previous studies indicate that carotid intima-medial thickness is a
significantly heritable phenotype, but the responsible genes are largely unknown. Hexose-6 phosphate dehydrogenase
(H6PDH) is a microsomal enzyme whose activity regulates corticosteroid metabolism in the liver and adipose tissue;
variability in measures of corticosteroid metabolism within the normal range have been associated with risk factors for
cardiovascular disease. We performed a genetic association study in 854 members of 224 families to assess the relationship
between polymorphisms in the gene coding for hexose-6 phosphate dehydrogenase
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