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 A...

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Main 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.
Format:	Online
Language:	English
Published:	IOS Press 2008
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850618/

id	pubmed-3850618
recordtype	oai_dc
spelling	pubmed-38506182013-12-11 Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS) 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. Other 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). IOS Press 2008 2007-11-26 /pmc/articles/PMC3850618/ /pubmed/18057531 http://dx.doi.org/10.1155/2008/813679 Text en Copyright © 2008 Hindawi Publishing Corporation.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	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.
spellingShingle	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. Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS)
author_facet	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.
author_sort	Abdollahi, Mohammad Reza
title	Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS)
title_short	Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS)
title_full	Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS)
title_fullStr	Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS)
title_full_unstemmed	Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS)
title_sort	homogeneous assay of rs4343, an ace i/d proxy, and an analysis in the british women’s heart and health study (bwhhs)
description	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).
publisher	IOS Press
publishDate	2008
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850618/
_version_	1612034266923794432

Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS)

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