The DOI matches its Crossref record; 67 of the 67 references it cites were found in a registry or an index.
ACE Polymorphisms
Open accessAbstract
Angiotensin converting enzyme (ACE) plays an essential role in two physiological systems, one leading to the production of angiotensin II and the other to the degradation of bradykinin. The wide distribution and multifunctional properties of these peptides suggest that ACE could be involved in various pathophysiological conditions. The discovery that ACE levels are under genetic control ushered in a new era of investigation; most studies focused on an insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene as a marker for a functional polymorphism. Recently, many single nucleotide polymorphisms were detected in the gene and the search for the locations of functional polymorphisms became a topic of extensive investigation. Nevertheless, association studies on the I/D polymorphism and clinical outcomes continued, mostly with conflicting results. This article reviews the current state of knowledge regarding ACE polymorphisms and suggests that a functional polymorphism is most likely located between intron 18 and the 3′ UTR. The potential existence of another functional polymorphism in the 5′ UTR, however, cannot be excluded. This review also presents an overview of ACE function in different pathophysiological systems, and summarizes previous reports on ACE and clinical outcomes. Although findings on the I/D polymorphism and disorders like diabetic nephropathy and Alzheimer disease can be considered conclusive, reports on most of the cardiovascular phenotypes are still controversial. Genotypic and phenotypic misclassifications, insufficient power in some studies, and the presence of interaction with other genes or environmental factors are possible explanations for the contradictory findings.
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Cited by
Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses
Bertram, L., & Tanzi, R. E. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2494 · Cited by 747
Classical Renin‐Angiotensin System in Kidney Physiology
Sparks, M. A., Crowley, S. D., Gurley, S. B., Mirotsou, M., & Coffman, T. M. (2014) · Comprehensive Physiology · doi:10.1002/cphy.c130040 · Cited by 521
Dichgans, M. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70028-5 · Cited by 397
Stolk, R. P., Rosmalen, J. G. M., Postma, D. S., de Boer, R. A., Navis, G., Slaets, J. P. J., Ormel, J., & Wolffenbuttel, B. H. R. (2008) · European Journal of Epidemiology · doi:10.1007/s10654-007-9204-4 · Cited by 391
(2009) · PubMed Central · Cited by 165
Metadata
- Authors
- Sayed-Tabatabaei, F. A., Oostra, B. A., Isaacs, A., van Duijn, C. M., & Witteman, J. C. M.
- Venue
- Circulation Research
- Published
- 2006-05-12
- Volume
- 98
- Issue
- 9
- Pages
- 1123-1133
- ISSN
- 0009-7330 (ISSN-L)
- 1524-4571
- OpenAlex
- W4238920409
- Cited by
- 353
- References
- 67
- FWCI
- 13.56
- Type
- journal article
- Language
- en
- Open access
- bronze
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