G
Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

ACE

Angiotensin Converting Enzyme

CHR 17
17q23.3

Overview

ACE encodes a key enzyme of the renin-angiotensin system that regulates blood pressure and electrolyte balance. The I/D (Insertion/Deletion) polymorphism influences ACE activity and is associated with athletic performance.

📍 Chromosomal Position

17q23.3 (Chromosome 17)

🧬 Gene Category

Fitness

🔬 Inheritance

Complex

📊 Prevalence

I/D polymorphism is very common

Function & Significance

ACE converts angiotensin I into angiotensin II, a potent vasoconstrictor. The enzyme plays a central role in:

  • Blood Pressure Regulation: Increases blood pressure
  • Fluid Balance: Regulates sodium and water
  • Heart Function: Influences heart size and performance
  • Muscle Metabolism: Influences energy availability

🏃 ACE and Sports

The I/D polymorphism influences athletic performance:

  • II Genotype: Low ACE activity, better for endurance
  • DD Genotype: High ACE activity, better for power/sprint
  • ID Genotype: Intermediate, balanced

Studies: II genotype is more frequent among elite mountaineers and marathon runners. DD genotype is more frequent among power athletes.

🧬 Relevant SNPs

The I/D polymorphism (rs4340):

rs4340
17:63488529
Allele 1

I

/

Allele 2

D

Significance: Insertion/Deletion Polymorphism

• II: Low ACE activity, better endurance, lower blood pressure

• DD: High ACE activity, better power, higher blood pressure

• ID: Intermediate ACE activity, balanced

🏋️ Training Recommendations

Based on your ACE genotype:

  • II Type: Focus on endurance training (running, cycling, swimming). Particularly benefits from altitude training.
  • DD Type: Focus on strength training and explosive movements (weightlifting, sprinting, HIIT).
  • ID Type: Versatile training, good all-round athletes. Can train both disciplines.

Important: Everyone can improve through training, regardless of genotype!

🩺 Health Aspects

DD Genotype:

  • Higher risk of hypertension
  • Increased risk of myocardial infarction (heart attack)
  • Regular blood pressure monitoring recommended

II Genotype:

  • Lower blood pressure
  • Lower cardiovascular risk
  • Better adaptation to high altitude

📚 Data Sources

The information on this page is based on the following scientific sources:

  • OMIM: #106180 – Online Mendelian Inheritance in Man
  • dbSNP: rs4340 – SNP Database (NCBI)
  • ClinVar: Clinical Variant Database (NCBI)
  • PubMed: ACE and Athletic Performance
  • Sports Medicine: ACE Genotype Studies

Last Update: February 2026

Biological Function

The ACE enzyme converts Angiotensin I into Angiotensin II, a potent vasoconstrictor. The I/D polymorphism (Insertion/Deletion) influences ACE activity and is associated with endurance performance, blood pressure, and cardiovascular health.

Associated Conditions

Hypertension Heart Failure Kidney Diseases
Molecular Analysis

Analyzed Markers

rs4340 Modifier
Pos: 17:63488529 | Alleles: I/D

I/D polymorphism - II: better endurance, DD: better power, higher blood pressure