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Cytochrome b-245 Alpha Chain Gene Variants and Arterial Function in Indonesian Short Stature Children

Nani Maharani1,2, Anindita Soetadji3, Agustini Utari1,3

  • 1Center for Biomedical Research, Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia.

Cardiology Research
|December 31, 2021
PubMed

Insights

Genetic variants in the cytochrome b-245 alpha chain (CYBA) gene may influence cardiovascular disease risk in short stature children. Specifically, the GG genotype of rs9932581 showed a protective effect on arterial function.

Area of Science:

  • Genetics
  • Cardiovascular Health
  • Pediatrics

Background:

  • Short stature and undernutrition are linked to increased cardiovascular disease (CVD) risk.
  • Genetic factors, like CYBA gene variants affecting nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, may impact arterial function.
  • Understanding these genetic links is crucial for identifying individuals with short stature at higher CVD risk.

Purpose of the Study:

  • To investigate the association between CYBA gene single nucleotide variants (SNVs) and arterial function in short stature children.
  • To explore potential genetic underpinnings for why some short stature individuals develop cardiovascular disease.
  • To identify specific CYBA gene variants that may influence cardiovascular health in this population.

Main Methods:

  • Collected genomic DNA from 142 short stature children in Indonesia.
  • Analyzed four common CYBA gene single-nucleotide polymorphisms (SNPs): rs4673, rs1049255, rs9932581, and rs7195830 using TaqMan assay.
  • Assessed arterial function via transthoracic echocardiography, measuring aortic stiffness and distensibility index.

Main Results:

  • The GG genotype of rs9932581 (-930A>G) in the CYBA gene was significantly associated with lower arterial stiffness.
  • Subjects with the GG genotype at rs9932581 exhibited higher arterial distensibility compared to AA and AG genotypes.
  • No significant associations were found for the other three CYBA gene SNVs examined.

Conclusions:

  • The GG genotype at rs9932581 of the CYBA gene may confer a protective effect against cardiovascular disease in children with short stature.
  • This specific genetic variant could be a key factor in modulating cardiovascular risk in this pediatric population.
  • Further research is warranted to confirm these findings and explore therapeutic implications.
Abstract

Keywords:
Aortic stiffnessCYBA geneNADPH oxidaseShort stature

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