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

Guilherme, JPLF, Bigliassi, M, Lancha Junior, AH. (2019). Association study of SLC6A2 gene Thr99Ile variant (rs1805065)with athletic status in the Brazilian population . GENE, 707 53-57. 10.1016/j.gene.2019.05.013

cited authors

  • Guilherme, JPLF; Bigliassi, M; Lancha Junior, AH


  • 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 ≈1%. However, none of the power athletes had the mutant T-allele (i.e., the C/T genotype), which may be related to decreased norepinephrine 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.

publication date

  • July 30, 2019

published in

Digital Object Identifier (DOI)

start page

  • 53

end page

  • 57


  • 707