2008 Barcelona - European Society of Human Genetics

Normal variation, population genetics, genetic epidemiology
periodontitis);among these individuals, 30% were genotyped positive
for IL-1( 26.6 % were genotyped positive for IL-1 α & 3.3% for IL-1β)
.Non of (MR) had good GI score while 13 were fair GI (23 .1% had initial
periodontitis,53 .8%with moderate periodontitis&23 .1%with severe
periodontitis) & the rest (12) had bad GI score (41 .7 % had moderate
periodontitis & 58 .3 % had severe periodontitis) . From all MR 36%
were genotyped positive for IL-1( 24 % were genotyped positive for
IL-1 α and 12 % for IL-1β).
Data concluded the important role of polymorphism in genes of IL-1(IL-
1α (+4845) & IL-1 β(+ 3953)alleles presence with periodontitis either in
normal or MR individuals & recommended their detection to determine
patient’s susceptibility for periodontitis . . Evaluation of role of other potential
candidate genes as contributors to periodontitis are needed .
P07.098
Frequency of the R229Q NPHs2 functional variant, associated
with increased risk for microalbuminuria, in Bulgarian Roma
population
O. Beltcheva1 , P. Botev1 , B. Zaharova2 , A. Savov2 , R. Kaneva1 , I. Kremensky2 ;
1 2 Molecular Medicine Center, Medical University, Sofia, Bulgaria, National Genetics
Laboratory, Medical University, Sofia, Bulgaria.
The cardio-vascular diseases are one of the leading causes for morbidity
and mortality in the Western societies . Their major social and healthcare
system impact warrants the extensive efforts for identification of
the genetic factors contributing to the predisposition to cardiovascular
events. Microalbuminuria, defined as urine albumin-to-creatinine ratio
of 0 .03 to 0 .299 mg/mg, is one of the recently recognised factors associated
with increased risk of developing cardiovascular disorders in
the general population . Multiple genetic epidemiological studies have
shown that there are genetic causes associated with predisposition
to the excretion of abnormal amounts of albumin in the urine . One of
these is the R229Q functional variant in the podocin gene, NPHS2 .
Pereira and co-authors have shown that R229Q is associated with a
2 .77-fold risk for developing microalbuminuric state even after adjustment
for age, ethnicity, hypertension, obesity, and diabetes (Pereira et
al ., 2004) . Since the distribution of this NPHS2 variant in the general
population differs depending on ethnicity, we wanted to evaluate its frequency
among Bulgarian Roma - an isolated population, with unique
genetic background . We genotyped Roma and Bulgarian population
control samples from the collection of the National Genetics Laboratory
and the Molecular Medicine Center . Our results indicated that the
allele frequency of the R229Q variant in Roma (3 .4%; number of alleles,
n=204) was not significantly different from the one we saw in Bulgarians
(1 .3%; n=238) and from that previously shown for Caucasians
(3%, Franceschini et al . 2006) .
P07.099
investigation of the polymorphism of eight genes among
Russian population
S. E. Khalchitsky 1 , M. O. Mkheidze 2 ;
1 Saint-Petersburg Scientific research institute of physical culture, St.Petersburg,
Russian Federation, 2 Medical Academy for postgraduate study, St.Petersburg,
Russian Federation.
Investigation of the polymorphic human genes sheds light on genetic
structure of the different populations . Our study included eight
polymorphic genes (CNB, NFATC4, PGC1A, PGC1B, TFAM, VEGF,
UCP2, and UCP3) . Well-known standard methods for DNA analysis
were used . The study population consisted of 1057 residents of Russian
Federation (female individuals - 574 aged from 16 to 19 yr, male
individuals - 483 aged from 17 to 20 yr) . Rates of alleles investigated
are the following: CNB I - 91 .5 per cent, NFATC4 Gly - 43 .6 per cent,
PGC1A Gly - 64 .9 per cent, PGC1B Pro - 4 .9 per cent, TFAM Thr - 9 .1
per cent, VEGF C- 24 .5, UCP2 Val -36 .4 per cent and UCP3 T - 23 .8
per cent
P07.100
Associations between serotonin transporter gene SLC A
polymorphism and level of intellectual development (iQ) of the
person
O. Gumerova, E. V. Lekontsev, V. Y. Gorbunova;
Bashkir State Pedagogical University it. M. Akmulla, Ufa, Russian Federation.
INTRODUCTION: Serotonin transporter gene SLC6A4 (17q11 .1-12)
is one of the basic genes, which define an overall performance of serotoninergic
neuromediators system . Its functional condition can be
reflected on some aspects of intellectual activity of the person.
METHODS: The level of intellectual development (IQ) is certain at 250
unrelated individuals in the age of 18-35 years by nonverbal Kettel
test .
According to parameters IQ examinees are divided into three groups:
with a normal level of intellectual development (IQ within the limits of
90-110 points), high (above 110 points) and low (below 90 points) .
The analysis of genetic polymorphism 5-HTTLPR is carried out by a
method PCR . RESULTS: Genotypes 1)*L/*L, 2)*L/*S, 3)*S/*S met frequency
1) 28%, 2) 42%, 3) 30% in group of comparison, 1) 21 .4%,
2) 59 .5%, 3) 19 .1% in group with high parameters IQ and 1) 33 .3%,
2) 41 .67%, 3) 25% in group with low level IQ . The analysis of associations
has shown statistically significant distinctions in distribution of
frequencies genotypes of gene SLC6A4 between group of comparison
and group with high parameters IQ (χ2=8.313; P=0.017), owing to increase
of frequency of genotype SLC6A4*L/*S (59 .5 % against 42 %
in group of comparison; P=0 .030; OR=1 .418; 95%CI 1 .069-1 .836) in
group of persons with high parameters IQ .
Is known, that the presence in genotype of allele SLC6A4*L provides
high level expression of serotonin transporter gene and the high intensity
of metabolism of serotonin, that is accelerating the process of
pulse transmission through carrying intensification of serotonin from
synaptic trough in presinaps .
P07.101
Genetic variation at nine stR loci in Russian siberian population
O. Odinokova;
Institute of Medical Genetics, Tomsk, Russian Federation.
STR loci represent a rich source of highly polymorphic markers for
medical, forensic and population studies . There are notable differences
in allele frequencies and heterozygosities between population
groups . We present here characteristics of the allelic polymorphism
for nine STRs loci: D7S820, D3S1358, D5S818, D13S317, HumVWA,
HumTHO1, HumF13B, HumLPL and HumCD4 in Russians (Caucasians)
living in South-West Siberia .
Allele typing was performed using PCR and subsequent high-resolution
PAAG electrophoresis . We have analysed 320-378 DNA samples
from unrelated individuals for each STR-system . Nine alleles were
identified in HumVWA (13-21 repeats, 139-171 bp), D5S818 (7-15 repeats,
134-166 bp) loci; eight alleles were note in D3S1358 (13-20 repeats,
118-146 bp), D13S317 (8-15 repeats, 169-197 bp), HumTHO1
(5-11 and 9 .3 repeats, 179-203 bp), HumCD4 (7-14 repeats, 130-165
bp) loci, and seven alleles - in D7S820 (7-13 repeats, 219-243 bp),
HumF13B (6-12 repeats, 169-193 bp) and HumLPL (8-14 repeats,
109-133 bp) loci . The frequency data obtained can be used for comparison
to other populations .
Genotype frequency distributions were consistent with Hardy-Weinberg
equilibrium for every STR-systems . The levels of observed heterozygosity
were high: 0,842 (HumTHO1), 0,828 (D13S317), 0,813-
0,812 (HumVWA, D7S820), 0,778-0,770 (D3S1358, D5S818), 0,701
(HumCD4), 0,694 (HumF13B) and 0,666 (HumLPL) .
Polymorphism information content (PIC), discrimination power (pD),
power of exclusion (W) and marching probability (pM) were performed
for each locus as indicators of their discrimination potential in human
identification and paternity analysis. Forensic efficiency data suggest
that investigated markers are very discriminating in Russian Siberian
population .