European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Genetic analysis, linkage, and association
P0897. Role of HLA in Anti-Endothelial Cell antibody positive
Indian SLE patients
U. Shankarkumar, V. Pradhan, M. Patwardhan, A. Pawar, K. Ghosh;
Institute of Immunohaematology, Mumbai, India.
Anti-endothelial cell antibodies (AECA) are heterogeneous group of
antibodies against a variety of antigenic determinants of endothelial
cells (EC). AECA plays an immunopathogenic role in triggering EC activation
leading to vascular damage. The presence and the strength
of AECA have been found to correlate with disease activity in various
systemic vasculitic diseases like systemic lupus erythematosus. To assess
the involvement of HLA alleles in AECA production, 45 clinically
and histopathologically proven cases of class IV lupus nephritis were
studied for their HLA A and HLA B alleles by standard NIH microlymphocytotoxicity
assay. All patients fulfilled ARA classification criteria for
SLE. AECA were detected by indirect immunofluorescence using cultured
human umbilical vein endothelial cells (HUVEC). Forty percent
of the SLE patients possessed the AECA antibodies. The HLA alleles
A9 (24) (OR=2.90, EF=0.29,p value 0.08) and B21 (OR=74, EF= 0.11,
p value 0.038) were significantly increased while HLA A1 (OR=0.27,
PF= 0.35, p value 0.039) and B40 (OR= 0.29, PF= 0.25, p value 0.076)
were significantly reduced among AECA positive SLE patients when
compared with AECA Negative patients. Further two-locus haplotype
analysis revealed that A19-B35, A3-B21, and A28-B21 were observed
with significant T value among AECA positive patients. The common
clinical symptoms among the AECA positive patients observed were
lupus nephritis (84%), involvement of skin (22%), involvement of
joints (17%) and CNS as well as hematological involvement (11%).
Our findings suggest that immunogenetic mechanism may be involved
in AECA antibody production leading to the immunopathogeneis in a
subset of SLE patients.
P0898. The association of regulatory genes‘ polymorphisms with
aerobic and anaerobic performance of athletes
I. A. Mozhayskaya 1 , I. I. Ahmetov 1 , D. V. Popov 2 , S. S. Missina 2 , O. L. Vinogradova
2 , I. V. Astratenkova 1 , V. A. Rogozkin 1 ;
1 St Petersburg Research Institute of Physical Culture, St Petersburg, Russian
Federation, 2 SRC Institute for Biomedical Problems of the Russian Acad. Sci.,
Moscow, Russian Federation.
The aim of the study was to investigate an allelic distribution of PPA-
RA (G/C polymorphism), PPARG (Pro/Ala), PPARD (+294T/C) and
PGC1A (Gly482Ser) genes in rowers (n=205) and controls (n=659),
and to find correlation between genotypes and physiological parameters.
Genotyping was performed by restriction fragment length polymorphism
analysis. Physiological parameters were evaluated by PM
3 Rower Ergometer and MetaMax 3B Gas Analyzer. The frequencies
of PPARA G (90.1% vs 83.6%) and PPARG Ala (23.1% vs 16.2%) alleles
in elite athletes, and of PPARD C (19.1% vs 10.5%) and PGC1A
Gly (75.4% vs 66.5%) alleles in sub-elite athletes were significantly
higher than in controls. Furthermore, PPARA G (when oxygen pulse
was measured) and PGC1A Gly (when maximal aerobic power and
anaerobic threshold (%) of VO 2max were measured) alleles were associated
with high values of aerobic performance. Thus, PPARA G,
PPARG Ala, PPARD C and PGC1A Gly alleles can be considered as
genetic markers associated with enhanced physical performance.
P0899. Polymorphism of paraoxonases and catalase genes in
connection with age gradation in Tatars from Russia.
V. V. Pauk, T. R. Nasibullin, I. A. Tuktarova, L. P. Zueva, O. E. Mustafina;
Institute of biochemistry and genetics, Ufa, Russian Federation.
It was generally recognized that toxic effect of lipid metabolism and
respiration by-products contributes to aging. Gene polymorphic structure
may influence composition and activity of protein production. The
aim was to investigate genes polymorphisms of paraoxonase 1 (PON1,
Q192R), paraoxonase 2 (PON2, C311S) and catalase (CAT, -262C/T)
in different age groups in Tatars from Bashkortostan (Russia).
We examined 1627 healthy persons: young (1-20 years), maturity (21-
55 years), elderly (56-74 years), senile (75-89 years) and long-livers
(90-109 years). Genotyping was performed using PCR-RFLP. Fisher’s
two-tailed exact rest (Statistica v. 6.0) was used for age groups comparison.
PON1*Q/*Q genotype frequency was lower in group of long-livers then
among maturity (P=0.039), elderly (P=0.035) and senile (P=0.021).
PON1*R/*R genotype frequency was raised among long-livers than
in senile (P=0.014). PON1*R allele frequency was higher among longlivers
in comparison with other age groups, excluding young (P