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Functional DNA variations associated with Saudi female with low VO2max: a pilot microarray study.

Lubna Ibrahim Al Asoom1, Hind Saleh Alsuwat2, Nazish Rafique1

  • 1Department of Physiology, College of Medicine, Imam Abdulrahman Bin Faisal University Dammam 31441, Saudi Arabia.

American Journal of Translational Research
|July 18, 2019
PubMed
Summary

Genetic factors influence cardiorespiratory fitness in young Saudi females. Specific gene variants and haplotypes are linked to low maximal oxygen uptake (VO2max), increasing cardiovascular risk.

Keywords:
Cardiorespiratory fitnessSNP genotypingVO2maxcardiovascular diseasegenetic predispositionshaplotypingpredictor genesrisk alleles

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Area of Science:

  • Genetics
  • Cardiovascular Health
  • Exercise Physiology

Background:

  • Low cardiorespiratory fitness (VO2max) is a growing concern, particularly in young populations.
  • Understanding the genetic underpinnings of VO2max can inform targeted health interventions.

Purpose of the Study:

  • To investigate genetic predispositions and molecular pathways associated with low cardiorespiratory fitness (VO2max) in young Saudi females.
  • To identify specific single nucleotide polymorphisms (SNPs) and haplotypes linked to reduced VO2max.

Main Methods:

  • Genotyping of 70 young Saudi females for 243,345 exonic variants.
  • Grouping participants into low VO2max (< 28.9) and high VO2max (> 33) categories.
  • Linkage disequilibrium (LD) and functional enrichment analyses were performed on significant SNPs.

Main Results:

  • Significant SNPs (P < 8.01 × 10⁻⁵) including CYFIP2&FNDC9-rs10037485T, C1R-rs75380747G, and TOP2A-rs13695C were identified in low VO2max individuals.
  • Risk haplotypes on chromosomes 1, 3, and 17 were associated with low VO2max.
  • Functional enrichment analysis revealed significant involvement of associated genes in heart rate, body weight, and cardiac muscle development.

Conclusions:

  • Identified genetic variants and haplotypes contribute to low cardiorespiratory fitness in young Saudi females.
  • These genetic predispositions may increase the risk of developing cardiovascular complications.
  • Further research into these genetic factors can guide personalized health strategies.