Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS).

@article{citeulike:2616113, 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.}, address = {Bristol Genetic Epidemiology Laboratory, University of Bristol, No. 24 Tyndall Avenue, Bristol, BS8 1TQ, UK. medmra@leeds.ac.uk}, author = {Abdollahi, M. R. and Huang, S. and Rodriguez, S. and Guthrie, P. A. and Smith, G. D. and Ebrahim, S. and Lawlor, D. A. and Day, I. N. and Gaunt, T. R. }, citeulike-article-id = {2616113}, issn = {0278-0240}, journal = {Dis Markers}, keywords = {ace, snp}, number = {1}, pages = {11--17}, posted-at = {2008-03-31 13:50:54}, priority = {2}, title = {Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS).}, url = {http://view.ncbi.nlm.nih.gov/pubmed/18057531}, volume = {24}, year = {2008} }

TY - JOUR ID - citeulike:2616113 L3 - citeulike-article-id:2616113 TI - Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS). JF - Dis Markers VL - 24 IS - 1 SP - 11 EP - 17 AD - Bristol Genetic Epidemiology Laboratory, University of Bristol, No. 24 Tyndall Avenue, Bristol, BS8 1TQ, UK. medmra@leeds.ac.uk SN - 0278-0240 N2 - 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. KW - ace KW - snp AU - Abdollahi, MR AU - Huang, S AU - Rodriguez, S AU - Guthrie, PA AU - Smith, GD AU - Ebrahim, S AU - Lawlor, DA AU - Day, IN AU - Gaunt, TR PY - 2008/// UR - http://view.ncbi.nlm.nih.gov/pubmed/18057531 ER -