Angiotensinogen, Angiotensin-Converting Enzyme, and Chymase Gene Polymorphisms as Biomarkers for Basal Cell Carcinoma

Christos Yapijakis1,2,3,4, Iphigenia Gintoni5,6,7, Sevastiana Charalampidou5,6

  • 1Unit of Orofacial Genetics, 1st Department of Pediatrics, National Kapodistrian University of Athens, "Hagia Sophia" Children's Hospital, Athens, Greece. cyapi@med.uoa.gr.

Abstract

Insights

Certain genetic variations in angiotensinogen (AGT), angiotensin-converting enzyme (ACE), and chymase (CMA1) genes are linked to an increased risk of basal cell carcinoma (BCC). These polymorphisms correlate with higher angiotensin II (AngII) levels, suggesting a role in BCC development.

Area of Science:

  • Genetics
  • Dermatology
  • Cardiovascular Research

Background:

  • Antihypertensive drugs like ACE inhibitors and angiotensin II receptor blockers reduce basal cell carcinoma (BCC) risk.
  • This suggests a potential role for angiotensin II (AngII) in BCC tumorigenesis.

Purpose of the Study:

  • To investigate the genetic association between BCC development and functional DNA polymorphisms in genes regulating AngII production.
  • Specifically examining AGT (M235T), ACE (I/D), and CMA1 (A1903G) polymorphisms.

Main Methods:

  • A case-control study was conducted with 203 unrelated Greek individuals.
  • The study included 100 patients diagnosed with BCC and 103 healthy controls matched for demographic factors.

Main Results:

  • The AGT-M235T polymorphism showed a significantly higher prevalence of the MT genotype in BCC patients (78.0%) compared to controls (28.3%).
  • The ACE-I/D polymorphism revealed an increased frequency of the DD genotype in BCC patients (72.8%) versus controls (46.2%).
  • The CMA1-A1903G polymorphism demonstrated a significantly higher frequency of the AG genotype in BCC patients (86%) compared to controls (50.5%).

Conclusions:

  • The MT, DD, and AG genotypes of AGT, ACE, and CMA1 polymorphisms, respectively, were significantly more frequent in BCC patients.
  • These genotypes are associated with increased enzyme activity and elevated AngII levels.
  • These findings suggest that these specific genotypes may serve as reliable biomarkers for increased BCC risk.

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