Genetic Profiling of Elite Athletes

Buccal saliva samples were collected via mouth swabs with participants instructed to brush the edge of a soft tip swab along the insides of their cheek and gums for 30 s [52 (link)–54 (link)]. Samples were collected before a pre-season training session and players were asked not to consume coffee, alcohol, or food for two hours prior to saliva collection. Collected samples were labelled with a numeric code for de-identification and were sent to the Australian Genome Research Facility (AGRF; Brisbane, QLD, Australia; NATA 17025) for DNA extraction and genotyping using Agena Bioscience MassARRAY system (AGRF; Brisbane, QLD, Australia). Genetic variants examined were within the following genes: ACTN3 (rs1815739), CCL2 (rs2857656), COL1A1 (rs1800012), COL5A1 (rs12722), COL12A1 (rs970547), EMILIN1 (rs2289360), IGF2 (rs3213221), NOGGIN (rs1372857), SMAD6 (rs2053423), with all genotypes being within Hardy–Weinberg equilibrium (HWE), as previously reported [52 (link)].

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Jacob Y., Anderton R.S., Cochrane Wilkie J.L., Rogalski B., Laws S.M., Jones A., Spiteri T., Hince D, & Hart N.H. (2022). Genetic Variants within NOGGIN, COL1A1, COL5A1, and IGF2 are Associated with Musculoskeletal Injuries in Elite Male Australian Football League Players: A Preliminary Study. Sports Medicine - Open, 8, 126.

Publication 2022

MassARRAY system

Alcohol Ccl2 Cheek Coffee Collected samples Emilin1 Food Genes Genetic variants Genome Genotypes Gums Igf2 Mouth Nata Noggin Saliva Smad6

Corresponding Organization : The University of Notre Dame Australia

Other organizations : Edith Cowan University, Australian Football League

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Variable analysis

independent variables

ACTN3 (rs1815739)
CCL2 (rs2857656)
COL1A1 (rs1800012)
COL5A1 (rs12722)
COL12A1 (rs970547)
EMILIN1 (rs2289360)
IGF2 (rs3213221)
NOGGIN (rs1372857)
SMAD6 (rs2053423)

dependent variables

Not explicitly mentioned

control variables

Participants were instructed not to consume coffee, alcohol, or food for two hours prior to saliva collection

positive controls

None specified

negative controls

None specified

Annotations

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