Chromosome - 17 SNP - rs4341 Gene Name - ACE

Basic Information

  • SNP rs4341
  • Chromosome 17
  • Gene Name ACE
  • Weight of evidence 4
Genotype Frequency
  • CG
  • GG
  • CC
  • --
Allele Frequency
  • G
  • C
  • -

SNP Expression Description

How does this fit in to your daily life?

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General SNP Description

ACE gene is an I/D polymorphism. “I” stands for insertion or presence of an ALU codon, which acts as a premature stop codon and “D” stands for deletion or absence of an ALU codon. sat In a study done on children a D allele in this SNP is associated with a risk for obesity, since on average children with ACE (D) carriers were heavier than children without the deletion. In addition to that, blood pressure did not differ between I/D carriers, but children that had high body fat composition along with being a “D” carrier had an adverse effect on their blood pressure. Research has also associated the “I” allele of the ACE gene with a higher maximum oxygen uptake (VO2max), greater response to training, and increased muscle efficiency as compared to individuals that carry the “D” allele. In a number of research studies presence of the ALU insert has been shown to lower ACE enzymatic activity and thus have lower ACE levels and tend to perform better at endurance sporting events. This could be due to lower levels of Angiotensin II or higher levels of bradykinin or some combination of the two. Studies done on elite swimmer performance have associated the “I” allele with elite long distance swimmers and the “D” allele with elite short distance swimmers, but these associations were not found for the non-elite swimmers. The protein product that is encoded by the ACE gene is an enzyme that converts Angiotensin I into Angiotensin II, which is an active form of Angiotensin and a vasopressor. ACE also degrades bradykinin, which is a strong vasodilator (dilates blood vessels) as well as other vasoactive peptides. ACE is part of a body system called Renin-Angiotensin-Aldosterone-System (RAAS), this system regulates blood pressure and fluid electrolyte balance in the human body. When blood is low in the kidneys, kidney cells release an enzyme called renin that converts angiotensinogen to Angiotensin I, which is then converted by ACE into angiotensin II. Angiotensin is a hormone that constricts blood vessels this in turn increases blood pressure. Thus, ACE can indirectly increase blood pressure. In addition to that, Angiotensin II stimulates the release of another hormone from the adrenal cortex in the brain called, Aldosterone. Aldosterone is a steroid hormone that regulates blood pressure by electrolyte balance in nephrons, or renal cells in the kidneys. It accomplishes its task by conservation of sodium (Na+), secretion of potassium (K+), increasing water retention in the kidneys and thus resulting in the increase in blood pressure and blood volume. If Aldosterone is not regulated correctly it can contribute to progression of cardiovascular and renal disease. Some research indicates that individuals with a Vitamin D deficiency or with a high risk for cardiovascular diseases might benefit from Vitamin D supplementation. In addition to that Vitamin D is associated with decreasing the production of renin enzyme from kidneys and thus indirectly lowering Angiotensin II levels. Possible disease association with ACE include: stroke caused by either internal bleeding or through obstruction of a blood vessel and renal tubular dysgenesis characterized by abnormal development of kidneys prior to birth. There is also an association with ACE gene and risk for pneumonia in a Japanese population with (I;D) and (I;I) genotypes. In addition to that, diabetes mellitus related pathological conditions that develop in numerous tissue and organs such as diabetic nephropathy are possible. Diabetic nephropathy is characterized by high blood sugar concentrations in the blood that destroy tiny blood vessels in the kidneys responsible for filtering out waste from the blood. Over time this leads to less effective kidney function or even complete loss of kidney function-kidney failure. Diabetic retinopathy is another possible complication of diabetes, which is characterized by damage to blood vessels in retina, which is light-sensitive tissue in the back of the eye, which can eventually lead to blindness. ACE enzyme serum levels are also decreased in people with Crohn’s Disease and Ulcerative Colitis irrespective of their genotype. Both diseases are types of Inflammatory Bowl Disease with symptoms ranging from diarrhea, abdominal pain, fever, weight loss and affecting mainly the intestines, but can occur anywhere from mouth to rectum. Another study has also associated individuals with ACE (D;D) genotype to be at a lower risk for restenosis (restricted blood flow) after coronary artery stent placement in the presence of ACE inhibitors which slow the activity of ACE enzyme.

For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.