Abdollahi, Mohammad Reza; Huang, Shuwen; Rodriguez, Santiago; Guthrie, Philip Alexander Isles; Smith, George Davey; Ebrahim, Shah; Lawlor, Debbie A; Day, Ian NM; Gaunt, Tom R; (2008) Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS). Disease markers, 24 (1). pp. 11-17. ISSN 0278-0240 DOI: https://doi.org/10.1155/2008/813679
Permanent Identifier
Use this Digital Object Identifier when citing or linking to this resource.
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, r2=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.
Item Type | Article |
---|---|
Keywords | Aged, Alleles, Blood Pressure, Cardiovascular Diseases, enzymology, genetics, DNA, analysis, Female, Genotype, Great Britain, Humans, INDEL Mutation, Linkage Disequilibrium, genetics, Metabolic Syndrome X, enzymology, Middle Aged, Peptidyl-Dipeptidase A, blood, genetics, Phenotype, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, genetics, RNA, Messenger, analysis, Women's Health |
Faculty and Department | Faculty of Epidemiology and Population Health > Dept of Non-Communicable Disease Epidemiology |
Research Centre | Centre for Global Non-Communicable Diseases (NCDs) |
PubMed ID | 18057531 |
ISI | 252204400002 |
Related URLs |
Download
Filename: DM24-01-813679.pdf
Licence: Creative Commons: Attribution-Noncommercial-No Derivative Works 3.0
Download