Abstract
The study aims to explore the genetic predispositions and molecular pathways of low cardiorespiratory fitness (VO2max) in young Saudi females (n = 70). Young females were grouped based on the level of VO2max according to the specification of the physical fitness specialist certification as lowVO(2max) (< 28.9; n = 19) and high VO2max(> 33; n = 14) and genotyped for 243345 putative functional exonic variants. The CYFIP2&FNDC9-rs10037485T, C1R-rs75380747G and TOP2A-rs13695C SNPs on chromosome 5, 12 and 17, respectively were found to be the most significant among young Saudi females with low VO2max (P < 8.01 x 10(-)(05)). Linkage disequilibrium (LD) analysis among the significant SNPs (P< 0.001) have revealed risk and protective haplotypes with high degree (p-value < 1.0 x 10(-4)) of LD. The most significant risk haplotypes with the low VO2max in young Saudi females are: Chromosome 1: LOC112268276-rs10800201G; LOC112268276-rs4657537A; rs4657583T (p-value = 2.00 x 10(-04)); Chromosome 3: rs978979G; CCDC66-rs7637449A; CCDC66-rs111934125T; FAM208A-rs9835332G (p-value = 5.00 x 10 degrees 4 ) and Chromosome 17: STX2-rs13696C; TNS4-rs1901187C (p-value = 1.00 x 10(-0)(4)). Functional Enrichment Analysis revealed that the genes with SNPs P < 0.001 have significantly involved in the heart rate (P = 0.00442), body weight (P = 0.00629), breath tests (P = 0.0147), proteolysis (P = 0.00623) and cardiac muscle fiber development (P = 0.0263). In conclusion we could say that the identified genetic predispositions and gene annotation enrichment in low VO(2max)in young Saudi females revealed that they are at high risk for developing cardiovascular complications.