Association study of SLC6A2 gene Thr99Ile variant (rs1805065) with athletic status in the Brazilian population

Autor(es)

Guilherme, Joao Paulo L. F. ^{[1, 2]} ; Bigliassi, Marcelo ^[2] ; Lancha Junior, Antonio H. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Sch Phys Educ & Sport, Lab Appl Nutr & Metab, Sao Paulo - Brazil

^[2] Univ Sao Paulo, Sch Phys Educ & Sport, Endurance Performance Res Grp, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Gene; v. 707, p. 53-57, JUL 30 2019.
• Citações Web of Science: 0

Resumo

Genetic variants in monoamine neurotransmitter genes have been recurrently associated with panic disorder, addiction and mood disorders. Recent evidence also indicates that norepinephrine neurotransmission can influence a series of psychophysical and psychobiological parameters related to athletic performance, and the presence of variants in the SLC6A2 (solute carrier family 6 member 2) gene, which encodes the norepinephrine transporter, can be detrimental to an adequate noradrenergic signaling. Accordingly, the objective of the present study was to explore the SLC6A2 Thr99Ile variant (rs1805065) in a cohort composed of highly-trained individuals and non-trained individuals. A total of 1556 Brazilians: 926 non-athletes and 630 athletes (322 endurance athletes and 308 power athletes) were compared in this case-control association study. The Thr99Ile variant showed only two genotypes (C/C or C/T), and a low minor allele frequency of approximate to 1%. However, none of the power athletes had the mutant T-allele (i.e., the C/T genotype), which may be related to decreased nor epinephrine transporter activity. The genotype distribution and allele frequency observed in power athletes were significantly different when compared to non-athletes or endurance athletes. Therefore, the presence of the T-allele may decrease the chance of belonging to the group of athletes involved in explosive physical tasks. These results still need to be replicated in independent cohorts. However, it appears reasonable to assume that there is an association between the SLC6A2 gene variant and power athletic status. (AU)

• Processo FAPESP: 18/08898-0 - Efeitos da auto-regulação sensorial sobre respostas neuropsicológicas e o desempenho esportivo durante o exercício predominantemente aeróbio
• Beneficiário: Marcelo Bigliassi
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado
• Processo FAPESP: 12/22516-6 - Perfil poligênico de atletas brasileiros: distribuição de polimorfismos associados ao desempenho físico
• Beneficiário: João Paulo Limongi França Guilherme
• Modalidade de apoio: Bolsas no Brasil - Doutorado