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Int J Mol Epidemiol Genet 2010;1(2):145-157.

Original Article
Implications of the angiotensin converting enzyme gene insertion/deletion
polymorphism in health and disease: a snapshot review

Paul R. Gard

University of Brighton, Moulsecoomb, BRIGHTON BN2 4GJ UK

Received December 20, 2009; accepted December, 2009; available online January, 2010

Abstract: This review considers the 250+ publications concerning the association of the angiotensin converting enzyme (ACE)
gene insertion / deletion polymorphism and various disease conditions.  The deletion allele occurs in approximately 55% of the
population and is associated with increased activity of the ACE enzyme.  It might be predicted that the D allele, therefore, might
be associated with pathologies involving increased activity of the renin-angiotensin system. The D allele was seen to be
associated with an increased risk of hypertension, pre-eclampsia, heart failure, cerebral infarct, diabetic nephropathy,
encephalopathy, asthma, severe hypoglycaemia in diabetes, gastric cancer (in Caucasians) and poor prognosis following
kidney transplant.  On the positive side, the D allele appears to offer protection against schizophrenia and chronic periodontitis
and confers greater upper-body strength in old age. The I allele, meanwhile, offers improved endurance / athletic performance
and aerobic capacity as determined by lung function tests, although it does increase the risk of oral squamous cell carcinoma
and obstructive sleep apnoea in hypertensives. (IJMEG912003).

Key words: Angiotensin converting enzyme, ACE polymorphism, renin-angiotensin system, hypertension, heart failure,
dementia, depression

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Address all correspondence to:
Paul R Gard, PhD
University of Brighton