ACE DD Polymorphism

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The human angiotensin coverting enzyme (ACE) gene is located on chromosome 17q23 and is comprised of 26 exons and 25 introns. Importantly, there is an insertion/deletion polymorphism in which a 278-bp fragment is either present or absent within intron 16. The deletion “D allele” has been shown to result in increased expression of the ACE gene, and interestingly the DD genotype is associated with an increased risk of hypertension, diabetic renal disease, and cardiovascular complications. The DD genotype turns out to be much more common in black populations than in white populations, and perhaps can account for some of the increased susceptibility towards renal disease observed in blacks compared to whites.

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