2008 Barcelona - European Society of Human Genetics

Normal variation, population genetics, genetic epidemiology
P07.045
investigation of an effect of economic crisis on the prevalence
of Down syndrome in st. Petersburg, Russia
N. V. Kovaleva 1 , D. K. Verlinskaya 2 , J. K. Morris 3 ;
1 St. Petersburg Medical Academy for Postgraduate Studies, St. Petersburg,
Russian Federation, 2 St. Petersburg Centre for Medical Genetics, St. Petersburg,
Russian Federation, 3 National Down Syndrome Cytogenetic Register,
England and Walles, London, United Kingdom.
OBJECTIVE: To investigate changes in the prevalence of Down syndrome
(DS) births during a global social transition . DESIGN: Data from
St . Petersburg Down Syndrome Register were analyzed with a special
attention to the period of high social expectations (1983-87) when the
number of births had been increasing (69,406→73,275) and the period
of a social frustration (1995-99) when the number of births had
declined most dramatically (33,841→29,438). STUDY POPULATION:
During 1980-1999, 1358 liveborn children with DS were identified
among 1 046,932 births; a rate of 1 .3/1000 births . Prenatal diagnosis
had low impact on the birth prevalence . METHOD: The data obtained
were compared with the expected rates and numbers based on the
data from NDSCR, 1989-2002 . RESULTS: Maternal age distribution in
the general population had changed during the study period: proportion
of mothers aged ≥ 35 yr increased from 6.8% in 1983-87 to 8.4%
in 1995-99, however this has not resulted in corresponding increase in
DS rate . In contrary, DS rate in 1995-99 was the lowest over the study
period, being 1.18/1000. However, by the model applied, this figure
does not differ significantly from the expected. The DS infant mortality
rate had fallen from 39% in 1983-87 to 17% in 1995-99 . DISCUSSION:
There is no evidence for an effect of economic crisis accompanied with
psychological stresses and with nutritional deficiency on chromosome
segregation or on surviving of affected children . A suggestion that low
DS rate might be explained by better welfare standards of reproducing
fraction of the population is under the study .
P07.046
skeletal muscle Gene ActN3 and Physical Performance:
O. Kasımay 1 , D. Sevinc 2 , S. O. Iseri 1 , K. Ulucan 3 , M. Unal 1 , A. I. Guney 4 , H.
Kurtel 1 ;
1 Marmara University, School of Medicine, Sport Physiology Department, Istanbul,
Turkey, 2 Maltepe University, School of Medicine, Medical Biology and Genetics
Department, Istanbul, Turkey, 3 Marmara University, School of Dentistry,
Medical Biology and Genetics Department, Istanbul, Turkey, 4 Marmara University,
School of Medicine, Medical Genetics Department, Istanbul, Turkey.
ACTN3 gene is responsible from the production of alpha-actinin-3 protein,
which has force-generating capacity of muscle fibers, and which
is restricted to fast fibers. Homozygosity for 577X in ACTN3 (R577XX)
results in no production of α-actinin-3 protein. Recent studies show
that elite sprint athletes had a higher frequency of the RR genotype .
Aim: The purpose of the study was to investigate ACTN3 gene variations
and their probable phenotypic reflection by using physiological
methods, and to show ACTN3 polymorphism in Turkish soccer players
(n=31) . Methods: After determining the genotypes by analyzing the
blood samples, three groups (XX,RR,RX) were formed . The groups
were existing R577X variant in both ACTN3 genes (XX,n=4), not existing
R577X variant in both ACTN3 genes (RR,n=22), or existing R577X
variant only one of the two ACTN3 genes (RX,n=5), respectively . To
determine aerobic performance, Bruce protocol was applied on treadmill
and maximal oxygen consumption (VO2max) was measured by
metabolic analyzer . On a separate day, anaerobic performance was
evaluated by Wingate test . Student’s t-test or analysis of variance
(ANOVA) was used for comparisons . Results: Thirteen % of the soccer
players had homozygosity for R577XX codon . The VO2max levels
in XX group tended to be higher from RR (p=0 .09) and RX groups
(p=0 .05) . VO2/HR (pulse oxygen) and VEmax (maximum ventilation)
levels were not different between groups . Peak power values tended
to be higher in RR group from the other groups . Our results evaluated
the effect of genotypic variations on sprint and endurance performance
of athletes contributing the understanding of genotype-phenotype correlation
.
P07.047
Polymorphisms of iL4 and iL4RA genes are associated with
endometriosis
M. Kozlovskaya, G. Demin, M. Yarmolinskaya, S. Selkov, T. Ivashchenko, V.
Baranov;
Ott’s Institute of Obstetrics and Gynaecology RAMS, St.-Petersburg, Russian
Federation.
Endometriosis is defined as a condition which displays features similar
to malignancy, proliferation and growth . Typical endometrioid cells
are characterized by increased cytokine activity . Cytokine genes are
polymorphic that results in synthesis of proteins with various functional
activities . The goal of the study focuses on the role of allelic variants of
IL4 and IL4RA genes in pathogenesis of endometriosis .
DNA samples from the patients with endometriosis (n=82) and healthy
women without gynecologic complications (n=69) were included in
the study . Group of patients was divided into two subgroups accoring
to severity of disease . Polymorphisms of IL4 (-590T>C) and IL4RA
(1902A>G) were defined by PCR-RFLP assay.
The alleles and genotypes frequencies of IL4 gene did not differ between
studied groups (p>0 .05) . The frequency of G/G genotype for
IL4RA gene was significantly higher in endometriosis patients (19.5%)
as compared to the control group (1 .4%, p