Payne, JR and Dhamrait, SS and Gohlke, P and Cooper, J and Scott, RA and Pitsiladis, YP and Humphries, SE and Rayner, B and Montgomery, HE (2007) The impact of ACE genotype on serum ACE activity in a black south african male population. ANN HUM GENET , 71 1 - 7. 10.1111/j.1469-1809.2006.00300.x.
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The strong association between the angiotensin I-converting enzyme (ACE) gene I/D polymorphism with serum ACE activity appears lacking in Nigerians and Kenyans, but has not previously been well assessed in others of African origin. This study addressed this issue in an ethnically well defined black South African population. A putative association for the A22982G ACE gene variant, a QTL likely to impact on serum ACE activity, was also sought.Subjects were 200 healthy male black South African volunteers from the Xhosa ethnic group. Venous blood was obtained from all subjects for DNA extraction. ACE I/D and A22982G genotypes were determined and serum ACE activity measured. Age and blood pressure were recorded. For the group as a whole (mean +/- SD age 38.5 +/- 9.8 years, SBP 119.6 +/- 14.1 mmHg, DBP 78.2 +/- 10.1 mmHg) serum ACE activity was 38.2 +/- 11.2 nmol ml(-1) min(-1). ACE I/D genotype was not significantly associated with serum ACE activity. In contrast, the A22982G variant was significantly associated with serum ACE activity, being 35.9 +/- 9.6, 38.1 +/- 10.6 and 42.4 +/- 15.3 nmol ml(-1)min(-1) for AA, AG and GG genotypes respectively; p=0.03 by ANOVA and p=0.01 by linear trend.In keeping with the findings in some other African populations, the ACE I/D polymorphism is not strongly associated with serum ACE activity in Xhosa South Africans. As such, it cannot be used as a marker of ACE activity in these subjects. In this regard the use of the A22982G gene variant may be more appropriate.
|Title:||The impact of ACE genotype on serum ACE activity in a black south african male population|
|Keywords:||ACE black African polymorphism serum, ANGIOTENSIN-CONVERTING ENZYME, GENE POLYMORPHISM, DELETION POLYMORPHISM, POSTMENOPAUSAL WOMEN, REPLACEMENT THERAPY, HAPLOTYPE ANALYSIS, I/D POLYMORPHISM, LINKAGE ANALYSIS, BLOOD-PRESSURE, DD GENOTYPE|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of) > Clinical Physiology|
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
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