Genetics and metabolomics of elite athletes: Genome-wide association study and Metabolomics profiling of elite athletes

AIM: The outstanding performance of elite athletes is a product of a complex interaction between genetic and environmental factors. The aims of this study was to compare differences in genetic and metabolic profiles among different classes of elite athletes and to identify genetically-influenced metabolic profiles (metabotypes) underlying these differences. METHODS: Genome-wide association study (GWAS) was conducted in 1259 elite athlete samples using Drug core BeadChip arrays, followed by non-targeted metabolomics of 692 serum samples. Genotype distribution, differences in metabolic levels and genetically-influenced metabotypes were compared between high and moderate endurance and power sports as well as among sports with different cardiovascular demands (CVD). RESULTS: Out of 341385 SNPs, two novel associations are reported for endurance status including rs56330321 in ATP2B2 (p=1.47E-7) and rs2635438 in SYNE1 (p=2.54E-7). A meta-analysis confirmed the association of rs56330321 and rs2635438 with endurance athlete status at GWAS level of significance. Metabolomics analysis of 740 metabolites was performed in in 191 (discovery cohort) and 500 (replication cohort) elite athletes. These studies revealed changes in various metabolites involved in steroid biosynthesis, fatty acid oxidation, oxidative stress response, xenobiotics and various mediators of cell signaling among different groups of endurance, power and CVD athletes. By combining GWAS with metabolomics profiling data (mGWAS), 19 common variant metabolic quantitative trait loci (mQTLs) were identified, of which 5 were novel. When focusing on metabolites associated with endurance, power and CVD, 4 common variant mQTLs were found, of which one novel mQTL linking 4-androsten-3alpha,17alpha-diol monosulfate and SULT2A1 involved in steroid sulfation was identified in association with endurance. CONCLUSIONS: GWAS, metabolomics and mGWAS of elite athletes identified novel markers associated with elite athletic performance with a potential application in biomarker discovery in relation to elite athletic performance

Phylogenetic Diversity of Cyanobacteria from Qatar Coastal Waters

Cyanobacteria represent the major microorganism phyla, being diverse and widespread group inhabiting most of the earth's environments. The recent increase of occurrence of toxic cyanobacterial strains in the marine environment attracts attention of the scientific community and environmental managers. The deterministic factors leading to such events are under scrutiny and are closely linked to our understanding of the diversity and environmental response of these strains to environmental conditions. The extreme environment witnessed in the Arabian Gulf is likely to nurture the occurence of such harmful events. In recent times advanced molecular methodologies for the detection and genetic characterization of cyanobacteria were developed based on DNA amplification techniques. We aim in this work to better understand the diversity of the cyanobacterial natural communities found in Qatar marine environment through a genotypic characterization (phylogenetic analysis) with the objective to i. assess the local diversity, and ii. provide consistent reference for future comparative analysis, biotechnological applications and monitoring. In this study, QUCCCM strains from Qatar coastal were used to amplify fragments of the 16S rRNA gene followed by phylogenetic analysis. This methodology showed to produce accurate identification of the considered strains and analyze their evolutionary relationship. 28 taxa were identified among them 21.4% belong to the genus Geitlerinem, 25% Chroococcidiopsis, 10.7% Synechococcus, 10.7% Stanieria, 7.1% Euhalothece, 7.1% Geminocystis, 3.6% Leptolyngbya, 3.6% Oscillatoria, and 3.6% Dermocarpella. The biogeographic distribution of the strains and their potential toxicity is discussed