2009 Vienna - European Society of Human Genetics

Complex traits and polygenic disorders
young athletes’ nutrition status showed that the level of dietary fat was
30% of total energy intake due to fat-rich diet and low carbohydrate
consumption. There was a deficiency in A, B1, B2, B6 vitamins and
calcium intake, whilst cholesterol consumption was high in athletes. In
conclusion, combining information from several known common polymorphisms
allows the identification of athlete subgroups (33.2% in our
study) with markedly differing risks of development of metabolic disorders.
High physical activity, rational nutrition of athletes and well-balanced
diet are important factors which may modulate negative effects
of unfavorable genotypes.
P09.015
NFAtc4 Ala160Gly polymorphism and elite power athlete status
J. V. Shikhova, I. I. Ahmetov, V. A. Rogozkin;
St Petersburg Research Institute of Physical Culture, St Petersburg, Russian
Federation.
The nuclear factor of activated T-cell (NFAT) family of transcription factors
contributes to the development of several organ systems. Mutation
of NFAT genes affects the development of endothelial cells, skeletal
myoblasts, chondroblasts, keratinocytes, and adipocytes. NFATC4
effects changes in gene expression during hypertrophy and fiber-type
switching in cardiac and skeletal muscle. We have recently shown that
Gly160 allele of the functional Gly160Ala polymorphism in NFATC4 is
associated with increased proportion of fast-twitch fibers of m. vastus
lateralis in athletes. As muscles of elite sprinters and weightlifters
predominantly consist of fast-twitch fibers, we therefore speculated
that NFATC4 Gly/Gly homozygotes should be more prevalent within
a group of power-oriented athletes. We have tested this hypothesis in
a case-control study of 91 Russian power-oriented athletes and 1113
controls. Cases consisted of elite athletes involved in jumping events,
speed skating (500-1000 m), swimming (50-100 m), throwing events
and weightlifting. NFATC4 gene Gly160Ala polymorphism was determined
by PCR-RLFP. We found that the frequencies of Gly/Gly genotype
(36.3% vs. 19.9%; P=0.0005) and Gly allele (59.3% vs. 44.1%;
P