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

Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS)
Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS)
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.
0278-0240
11-17
Abdollahi, Mohammad Reza
96ec68db-6302-4216-9aaf-9951a44be8b8
Huang, Shuwen
50d7f3f2-2767-462c-a3f9-bf4711657e1f
Rodriguez, Santiago
f235ea2b-b6f3-45e4-9fc3-5a0383689ed6
Guthrie, Philip Alexander Isles
9736f09b-d955-4218-ad6d-a5845c68b787
Smith, George Davey
f5bc8327-f2cb-49a0-8eae-4a6ba63207a2
Ebrahim, Shah
0f2ade5c-4ef6-4ca7-9f9b-9b60ba192b13
Lawlor, Debbie A
220a802a-1560-4433-b4fa-fadbc336b1f4
Day, Ian N M
da3e496f-5262-4595-a20a-6db60aa0bade
Gaunt, Tom R
28c4a0b7-ec5e-4ee8-85eb-6d03b24bd6d1
Abdollahi, Mohammad Reza
96ec68db-6302-4216-9aaf-9951a44be8b8
Huang, Shuwen
50d7f3f2-2767-462c-a3f9-bf4711657e1f
Rodriguez, Santiago
f235ea2b-b6f3-45e4-9fc3-5a0383689ed6
Guthrie, Philip Alexander Isles
9736f09b-d955-4218-ad6d-a5845c68b787
Smith, George Davey
f5bc8327-f2cb-49a0-8eae-4a6ba63207a2
Ebrahim, Shah
0f2ade5c-4ef6-4ca7-9f9b-9b60ba192b13
Lawlor, Debbie A
220a802a-1560-4433-b4fa-fadbc336b1f4
Day, Ian N M
da3e496f-5262-4595-a20a-6db60aa0bade
Gaunt, Tom R
28c4a0b7-ec5e-4ee8-85eb-6d03b24bd6d1

Abdollahi, Mohammad Reza, Huang, Shuwen, Rodriguez, Santiago, Guthrie, Philip Alexander Isles, Smith, George Davey, Ebrahim, Shah, Lawlor, Debbie A, Day, Ian N M and 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), 11-17. (PMID:18057531)

Record type: Article

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.

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Published date: 2008
Organisations: Cancer Sciences

Identifiers

Local EPrints ID: 364367
URI: https://eprints.soton.ac.uk/id/eprint/364367
ISSN: 0278-0240
PURE UUID: 2a3d4bf1-0696-4416-b4e2-9ddb50864004

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Date deposited: 25 Apr 2014 13:37
Last modified: 29 Sep 2017 23:27

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Contributors

Author: Shuwen Huang
Author: Santiago Rodriguez
Author: Philip Alexander Isles Guthrie
Author: George Davey Smith
Author: Shah Ebrahim
Author: Debbie A Lawlor
Author: Ian N M Day
Author: Tom R Gaunt

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