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Article type: Research Article
Authors: Abdollahi, Mohammad Reza; | Huang, Shuwen | Rodriguez, Santiago | Guthrie, Philip Alexander Isles | Smith, George Davey | Ebrahim, Shah | Lawlor, Debbie A. | Day, Ian N.M. | Gaunt, Tom R.
Affiliations: Bristol Genetic Epidemiology Laboratory, University of Bristol, No. 24 Tyndall Avenue, Bristol, BS8 1TQ, UK | Human Genetics Division, MP 808, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK | Department of Social Medicine, Canynge Hall, Whiteladies Road, Bristol, BS8 2PR, UK | Department of Epidemiology & Population Health, London School of Hygiene & Tropical Medicine, Keppel Street, London WC1E 7HT, UK | Section of Genetics, Leeds Institute of Molecular Medicine, University of Leeds, St. James's Hospital, Beckett St., Leeds LS9 7TF, UK
Note: [] Corresponding author: Dr. M.R. Abdollahi, Tel.: +44 0113 3438422; Fax: +44 0113 3438702; E-mail: medmra@leeds.ac.uk; rabdollahi@gmail.com
Abstract: Current literature suggests that ACE SNP rs4343, ACE 2350A>G in exon 17, T202T, may be the best proxy for the ACE Alu I/D whereas rs4363 and rs4362 may be slightly stronger predictors of ACE levels. Considering reported difficulties in genotyping ACE I/D and stronger associations of rs4343 than ACE I/D with plasma ACE levels in Africans, and suitability of rs4343 for allelic mRNA (cDNA) studies, we developed and validated a liquid phase assay for rs4343, which has advantage on both functional and technical grounds. We confirmed that rs4343, is in near perfect linkage disequilibrium (D'=1, r^{2}=0.88, n=64) with ACE I/D in Europeans (A and G alleles of rs4343 marking insertion and deletion alleles of ACE I/D respectively). We then studied its association with metabolic and cardiovascular traits in 3253 British women (60–79 years old). Apart from a nominal trend of association with diastolic blood pressure (p anova=0.08; p trend=0.05), no other associations were observed. A post-hoc vascular and general phenome scan revealed no further associations. We conclude that ACE I/D is not a major determinant of metabolic and cardiovascular traits in this population. Liquid phase genotyping of SNP rs4343 may be preferable to gel based ACE I/D genotyping both for technical and functional reasons.
Keywords: Angiotensin converting enzyme, insertion deletion polymorphism, metabolic syndrome trait, Alu element, single nucleotide polymorphism
Journal: Disease Markers, vol. 24, no. 1, pp. 11-17, 2008
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