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


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 low VO2max (< 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 × 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 × 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 × 10-04); Chromosome 3: rs978979G; CCDC66-rs7637449A; CCDC66-rs111934125T; FAM208A-rs9835332G (p-value = 5.00 × 10-04) and Chromosome 17: STX2-rs13696C; TNS4-rs1901187C (p-value = 1.00 × 10-04). 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 VO2max in young Saudi females revealed that they are at high risk for developing cardiovascular complications.

SUBMITTER: Al Asoom LI 

PROVIDER: S-EPMC6614660 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Functional DNA variations associated with Saudi female with low VO<sub>2max</sub>: a pilot microarray study.

Al Asoom Lubna Ibrahim LI   Alsuwat Hind Saleh HS   Rafique Nazish N   Al Makhaita Marwah M   Alamoudi Widyan W   AbdulAzeez Sayed S   Borgio Jesu Francis JF  

American journal of translational research 20190615 6


The study aims to explore the genetic predispositions and molecular pathways of low cardiorespiratory fitness (VO<sub>2max</sub>) in young Saudi females (<i>n</i> = 70). Young females were grouped based on the level of VO<sub>2max</sub> according to the specification of the physical fitness specialist certification as low VO<sub>2max</sub> (< 28.9; <i>n</i> = 19) and high VO<sub>2max</sub> (> 33; <i>n</i> = 14) and genotyped for 243345 putative functional exonic variants. The <i>CYFIP2&FNDC9</i>  ...[more]

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