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Hindawi, Disease Markers, 1(24), p. 11-17

DOI: 10.1155/2008/813679

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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)

Journal article published in 2008 by G. {Davey Smith}, Gaunt Tr, Mohammad Reza Abdollahi, Abdollahi Mr, Shuwen Huang, Santiago Rodriguez, Philip Alexander Isles Guthrie, Guthrie Pai, George Davey Smith, Shah Ebrahim, Debbie A. Lawlor, Ian N. M. Day, Day Inm, Tom R. Gaunt ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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).