2008 Barcelona - European Society of Human Genetics

Molecular and biochemical basis of disease
triosis patients had short (CA)n alleles more frequently than healthy
controls (61 .4% vs 51 .5%, p=0 .018) . This difference was even more
remarkable in case of stage IV disease (80 .8% vs 51 .5%, p=0 .007) .
Conclusions . The C-allele of PvuII polymorphism in ESR1 gene and
short ESR2-(CA)n alleles could be associated with susceptibility to
endometriosis .
P06.096
Genetic polymorphisms and physical performance in endurance
sports
D. Varillas1,2 , J. J. Telleria1,2 , Á. Martín-Pastor1 ;
1 2 Facultad de Medicina. Universidad de Valladolid, Valladolid, Spain, Instituto
de Biología y Genética Molecular (UVa/CSIC), Valladolid, Spain.
Genes determine the potential for developing many of the structural
and functional characteristics important in determining sports performance.
So, the genetic constitution defines innate qualities. The genes
also determine the speed and extent to which the performance characteristics
of the individual respond to training, diet, and other environmental
factors . The effects of genes on response to training to endurance
sports seem to be moderate to large .
Here we study the correlation between endurance sports and the following
polymorphisms: isertion/deletion in intron 16 (I/D) within ACE
gene; p .C282Y and p .H63D in HFE (hemocromatosis) gene and
p .R577X within ACTN3 (alpha3-actinin) .
We have genotyped samples of two groups of endurance sportsmen
(runners n=48 and cyclists n=60) and control population (n=66) .
We have observed that the D allele of the ACE gene were more
frequent in sportsmen as a whole (72%) than in control population
(42 .4%) p=0 .0001 . For runners the frequency were 70 .7% p=0 .003,
and for cyclist 72 .9% with p=0 .004 .
p .63D allele of HFE was present in 60 .3% of the cyclist and in 41 .3%
of the controls (p=0 .006) . There werre no differences between runners
and controls . The frequency of the p .282Y allele is very low in
our population, nevertheless, it was more frequent in cyclist than in
runners p=0 .015
Th study of ACTN3 gene did not show diferences between the
groups .
We conclude that genetic constitution contributes to the talent to practice
endurance sports, and that the “predisposing” genes seem to be
sport-specific.
P06.097
Analysis of AcE and eNOs gene polymorphisms in hemodialysis
patients
T. M. Damnjanovic1 , I. Novakovic1 , B. Jekic1 , N. Maksimovic1 , V. Bunjevacki1 ,
S. Simic2 , L. Djukanovic2 , L. Lukovic1 ;
1 2 Institute of Biology and Human Genetics, Belgrade, Serbia, Institute of Nephrology
, CCS, Belgrade, Serbia.
Polymorphisms in genes encoding for angiotensin I converting enzyme
(ACE) and NO syntase (eNOS) have been reported to be associated
with increased susceptibility to renal failure . The aim of the study was
to investigate allelic distribution of eNOS (4a4b, G894T) and ACE (I/
D) gene polymorphisms in hemodialysis patients (n=128) and control
group (n=101) and to find possible association of mutant allele with this
disorder in Serbian population . The polymorphic variants were analysed
using PCR-RFLPS and PCR-VNTR method .
The allele frequencies of two eNOS gene polymorphsms were: 0 .27
894T, 0 .21 4a, in the group of patients and 0 .31 894T, 0 .17 4a in control
group . The frequencies of G894T polymorphism genotypes were
0 .56 GG, 0 .35 GT, 0 .09 TT in the group of patients and 0 .50 GG, 0 .38
GT, 0 .11 TT in the control group . The genotype frequencies of eNOS
inton 4 polymorphism were 0 .65 bb, 0 .28 ba, 0 .07 aa in the group of
patients, and 0 .70 bb, 0 .26 ba, 0 .04 aa in the control group . The difference
between allelic and genotype frequencies (patients/control) is not
statistically significant. The allele frequencies of ACE gene were 0,71
D (genotype: 0 .58 DD, 0 .28 ID, 0 .14 II) in the group of patients and
0,62 D (genotype: 0 .45 DD, 0 .34 ID, 0 .21 II) in the control group . The
D allele frequencies in a group of patients is significantly higher than in
control group ( χ2=3.96, DF=1, p