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Association of ACE gene haplotype with essential hypertension

Journal of Human Hypertension volume 18, pages 913–914 (2004)Cite this article

Several studies on the association of ACE I/D polymorphism and the risk of developing essential hypertension (EH)1, 2, 3 have generated inconsistent information. This instigated a search for new polymorphisms in the ACE gene to identify better markers or actual functional variants. Accumulated evidence points to the existence of two QTLs at this chromosomal locus.4 A genome-scan analysis by The Framingham Heart Study found strong evidence for a QTL on chromosome 17, located close to the ACE gene and linked to blood pressure (BP).3 Among the 13 polymorphisms of the ACE gene recently reported, a polymorphism in exon 17, ACE 2350 G>A, has the most significant effect on plasma ACE concentrations as it accounts for 19% of the total variance in ACE plasma levels.5 After adjustment for the effect of ACE 2350 G>A polymorphism, the I/D polymorphism was no longer associated with plasma ACE concentration, indicating that it is in linkage disequilibrium (LD) with ACE 2350 G>A and unlikely to be a functional mutation.5 We recently found that the ACE 2350 G>A polymorphism is associated with EH.6

To substantiate our findings further we genotyped our patients6 for ACE I/D as well using the protocol previously described.7 Haplotypes of the two ACE polymorphisms were constructed and their segregation with EH was observed. Our study subjects were nationals of the United Arab Emirates (Emirati)—an ethnic group characterized by no alcohol intake and no cigarette smoking and marked by high levels of consanguinity, which raise homozygosity levels and minimize the influence of selection bias and population stratification. Informed consent was taken from all participants and the project was approved by the Research Ethics Committee of the Faculty of Medicine and Health Sciences (UAE University, Al Ain, UAE).

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Authors and Affiliations

  1. Department of Biological and Biomedical Sciences, Faculty of Health Sciences, The Aga Khan University, Karachi, Pakistan

    M Saeed, A N Khan, S Siddiqui, K Saboohi, S O Ali & P M Frossard

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  1. M Saeed
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  2. A N Khan
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  3. S Siddiqui
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  4. K Saboohi
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  5. S O Ali
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  6. P M Frossard
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Correspondence to P M Frossard.

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Saeed, M., Khan, A., Siddiqui, S. et al. Association of ACE gene haplotype with essential hypertension. J Hum Hypertens 18, 913–914 (2004). https://doi.org/10.1038/sj.jhh.1001757

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