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Angiotensin Converting Enzyme Gene Insertion/Deletion Variant and Familial Mediterranean Fever-related Amyloidosis

Ayse Feyda Nursal1, Ercan Turkmen, Suheyla Uzun Kaya

  • 1Department of Medical Genetic, Faculty of Medicine, Hitit University, Corum, Turkey. feydanursal@hotmail.com.

Iranian Journal of Kidney Diseases
|June 13, 2018
PubMed
Abstract

Insights

The angiotensin converting enzyme (ACE) I/D variant, particularly the D/D genotype, is associated with an increased risk of developing familial Mediterranean fever (FMF)-related amyloidosis in Turkish patients. This finding may help identify individuals at higher risk for this kidney complication.

Area of Science:

  • Genetics
  • Nephrology
  • Internal Medicine

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease.
  • Secondary amyloidosis is a major complication of FMF, potentially leading to kidney failure.
  • Genetic variations in the renin-angiotensin system may influence kidney disease development in FMF.

Purpose of the Study:

  • To investigate the association between the angiotensin converting enzyme (ACE) I/D gene variant and the risk of FMF-related amyloidosis.
  • To explore the role of ACE gene variability in the pathogenesis of kidney complications in Turkish FMF patients.

Main Methods:

  • A case-control study involving 240 participants: 40 FMF patients with amyloidosis, 100 FMF patients without amyloidosis, and 100 healthy controls.
  • Genotyping of the ACE I/D variant was performed using polymerase chain reaction (PCR).

Main Results:

  • Significant differences in ACE I/D genotype distribution were observed between FMF patients with amyloidosis and controls (P < .05).
  • The ACE D/D and I/D genotypes were more prevalent in FMF patients with amyloidosis, while the I/I genotype was less frequent.
  • FMF patients (with and without amyloidosis) showed higher percentages of D/D and I/D genotypes compared to healthy controls (P < .05).
  • A significant correlation was found between DD genotypes and increased risk of FMF-related amyloidosis (odds ratio, 3.24; 95% CI, 1.05 to 12.01).

Conclusions:

  • The ACE I/D variant, specifically the D/D genotype, appears to be a risk factor for developing FMF-related amyloidosis in the Turkish population.
  • These findings suggest a potential genetic marker for predicting amyloidosis risk in FMF patients.
  • Further research is warranted to elucidate the precise mechanisms linking ACE gene variants to FMF-related kidney complications.

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