Genetic Background of Hypertension in Connective Tissue Diseases

Bogna Grygiel-Górniak1, Iwona Ziółkowska-Suchanek2, Elżbieta Kaczmarek3

  • 1Department of Rheumatology and Internal Diseases, Poznan University of Medical Sciences, Poznan 61-545, Poland.

Insights

Connective tissue diseases (CTD) and specific gene variations like PPAR gamma-2 and ADRB3 influence hypertension risk. These genetic factors, along with age and body fat, predict hypertension and metabolic complications in CTD patients.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Disease Research
  • Metabolic Syndrome Studies

Background:

  • Peroxisome proliferator-activated receptors (PPAR gamma-2) and beta-3-adrenergic receptors (ADRB3) are implicated in hypertension risk.
  • The specific roles of PPAR gamma-2 and ADRB3 in blood pressure regulation within connective tissue diseases (CTD) remain unclear.

Purpose of the Study:

  • To investigate the association between PPAR gamma-2 and ADRB3 gene polymorphisms and hypertension in patients with CTD.
  • To identify genetic and clinical predictors of hypertension and associated metabolic complications in CTD.

Main Methods:

  • Genotyping of 104 CTD patients and 103 controls for PPAR gamma-2 (Pro12Ala, C1431T) and ADRB3 (Trp64Arg) polymorphisms.
  • Analysis of anthropometric, biochemical data, and blood pressure measurements.
  • Utilized TaqMan® SNP genotyping assays and PCR-RFLP for genotyping.

Main Results:

  • No significant difference in genotype/allele prevalence between CTD patients and controls, or between hypertensive and normotensive subjects.
  • CTD patients exhibited lower body fat, higher body water, glucose, and triglyceride levels.
  • Hypertensive subjects were older with higher BMI, waist circumference, body water, glucose, and TG.
  • Multivariate analysis indicated that Ala12/X or Trp64Trp genotypes were associated with higher body mass and WC in hypertensive individuals.
  • Trp64Trp polymorphism correlated with higher TG levels, and T1431/X with higher WC.
  • CTD presence, visceral fat distribution, and age were identified as hypertension predictors.
  • Hypertensive CTD patients with Trp64Trp showed increased risk of visceral obesity and metabolic issues.
  • Ala12/X or T1431/X predicted visceral fat distribution in hypertensive subjects.

Conclusions:

  • Age, CTD, and visceral fat distribution are key predictors of hypertension.
  • Specific PPAR gamma-2 and ADRB3 polymorphisms may influence body composition and metabolic parameters, impacting hypertension risk and severity in CTD patients.
  • Trp64Trp polymorphism is linked to increased risk of visceral obesity and metabolic complications in hypertensive CTD patients.

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