Background: The study of folate exchange in individuals with high physical activity living in the
north harsh conditions is important for maintaining the athletes health. Climatic conditions, an evolutionarily formed genotype translates changes in folate metabolism.

Aims: Due to athletic activity, an increased level of homocysteine c an le ad to the severe
cardiovascular system work disruption.

Methods: The study involved 98 athlet es living in the North-West of Russia. We studied the
genes regulating folate metabolism and the blood homocysteine level.

Results: The enzyme methylenetetrahydrofolate reductase C677T gen e variant was found in
45.2% (95% CI: 34.1 – 56.5%), the homozygous variant – in 5% (95% CI: 1.5-12%) of cases. The genetic variant MTHFR (glu429ala) was observed in 48% of athletes (95% CI: 36-59%), the homozygous allele 1298C occurred in 3.6% (95% CI: 0.8-10, 3%). The genetic marker MTRR 66G methionine synthase reductase had a frequency of 76% (95% CI: 65-84%). Homozygous variant was observed in 23% (95% CI: 15-34%). Hidden hyperhomocysteinemia (10.5-13.5 µmol / l) was detected in 40.2% [95% CI: 29.3-51.7%] of cases. Explicit hyperhomocysteinemia (from 13.5 µmol / L) was in 38.9% [95% CI: 28-50%] of cases. In 20.9% [95% CI 13.3-32.5] the level of homocysteine was within physiological values (up to 10.5 µmol / l).

Conclusions: The examined athletes genotype carries a number of o ptions that lead to disruptions in the normal functioning of the enzymes involved in the conversion of folic acid. Such changes can lead to the accumulation of homocysteine, manifested by hyperhomocysteinemia, observed in athletes.
The reported study was funded by RFBR according to the research project No18-00-00814-KOMFI (18-00-0047818).

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/folate-exchange-in-athletes-of-north-west-russia/