2009 Vienna - European Society of Human Genetics

Evolutionary and population genetics, and Genetic epidemiology
P10.10
catechol-O-methyltransferase gene polymorphism study in
uterine leiomyoma patients from Russia
N. S. Osinovskaya 1 , I. Sultanov 2 , L. Dzhemlikhanova 2 ;
1 Ott’s Institute of Obstetrics and Gynecology, St.Petersburg, Russian Federation,
2 St.Petersburg State University, St.Petersburg, Russian Federation.
Catechol-O-methyltransferase (COMT) is one of several enzymes
participating in catecholamines metabolism. The gene COMT (22q11)
contains a G-to-A transition polymorphism in codon 158, which results
in a valine-to-methionine substitution in its protein product. Several
studies postulate association of this polymorphism with uterine leiomyoma
- a common, benign, smooth muscle tumor of great medical and
social significance. The aim of our study was to investigate possible
association of COMT G158A polymorphism with uterine leiomyoma
in women from North-West of Russia. DNA was extracted from blood
samples of 33 uterine leiomyoma patients and from 68 control females
and subjected to PCR-RFLP analysis. The relative frequencies of AA,
AG, GG genotypes were 0.429, 0.257 and 0.314 in the uterine leiomyoma
group, respectively, compared to control subjects - 0.426, 0.176
and 0.398, respectively. No statistically significant differences with respect
to allele frequency and genotype distribution were ascertained
for COMT G158A polymorphism in the patients and compared to the
control groups (P=0.6 and P=0.6, respectively). Thus far we could not
confirm association of the COMT G158A polymorphism with risk of
uterine leiomyoma in women from North-West of Russia.
P10.11
Prevelance of consanguineous marriage in Afyonkarahisar and
its relation with the occurence of congenital anomalies
H. Samli1 , D. Toprak2 , M. Solak1 ;
1Kocatepe University, Medical Faculty, Department of Medical Genetics, Afyonkarahisar,
Turkey, 2Kocatepe University, Medical Faculty, Department of Family
Medicine, Afyonkarahisar, Turkey.
This study was performed to search the frequency and the causes of
consanguineous marriages and their effects on spontaneous abortions
and births with congenital abnormalities. In this study, only one person
was selected from each family by random sampling method and face
to face survey method was performed. Consanguineous marriage was
detected in 381 (19,6%) of 1940 married people in the families studied.
It is detected that fist cousin marriage was the most frequent one with
14,8% and the second was other cousin marriages with 4,8% frequency.
When first marriage age was evaluated, especially the frequency
of consanguineous marriage was detected to be high at the ages of 17
and less, while it was rare at the ages of 31 and over. It was detected
that consanguinity between parents and low education level increased
the frequency of spontaneous abortion and congenital abnormalities.
The frequency of spontaneous abortion and congenital abnormalities
in families with consanguineous marriage was found to be significantly
higher than the group made foreign marriage.
Consanguineous marriage and its degree in
Afyonkarahisar
consanguinity / Degree n %
No 1559 80.4
Yes (First cousin marriage) 287 14.8
Yes (second cousin marriage) 94 4.8
total consanguineous marriage 381 19.6
total number of population 1940 19.6
P10.12
Assessment of a relationship between consanguinity and early
pregnancy loss in tunisian population
I. El Kamel Lebbi 1,2 , R. Bhouri 1 , W. Ayed 1 , O. Kilani 1 , S. Abdelhak 2 , N.
Bouayed-Abdelmoula 3 , A. Amouri 1,2 ;
1 Cytogenetic Laboratory, Pasteur Institute of Tunis, Tunis, Tunisia, 2 Molecular
Investigation of Genetic Orphan Diseases Research Unit (MIGOD), UR26/04,
Pasteur Insitute of Tunis, Tunis, Tunisia, 3 Laboratoire d’Histologie Embryologie,
Faculté de Médecine de Sax, Sfax, Tunisia.
In this study, we’ve tried to establish the possible relationship between
recurrent miscarriage and consanguinity in the Tunisian population,
where the prevalence of first cousin marriage is about 50%. A cluster
sample of 100 married couples, representative of all population
groups and all geographic locations of Tunisia were randomly selected
whom were asked whether or not they had experienced a stillbirth or
a spontaneous abortion. The consanguineous women of early pregnancy
losses were compared with non-consanguineous women from
the same population and with the same obstetrical history, matched
for maternal age. The investigation showed no difference in the rate of
maternal disorders. There was also no evidence of familial clustering
of recurrent miscarriage in both groups. The absence of a relationship
between recurrent miscarriage and consanguinity in Tunisia could be
due to the particular characteristics of the native Tunisian population, in
which rare recessive genes are uncommon, or overall to the absence
of an association between recurrent miscarriage and consanguinity.
P10.13
Polymorphisms of Genes involved in oxidative stress response
PON1 (Q192R, L55m), mn-sOD (Ala16Val) and cAt (c-262t) and
the Development of coronary Artery Disease (cAD) in Patients
of Different Age and sex in st. Petersburg, Russia.
M. Bogdanova 1 , G. P. Pardo 2 , A. N. Voitovich 3 , O. S. Romashkina 3 , B. I.
Smirnov 4 , A. J. Anisenkova 1 , V. A. Isakov 5 , O. N. Semenova 5 , N. V. Kirillova 2 , O.
A. Berkovich 6 , E. V. Shlyahto 3 , V. I. Larionova 3 ;
1 St.-Petesburg State Pediatric Medical Academy, Saint-Petersburg, Russian
Federation, 2 St.-Petersburg State Chemical Pharmaceutical Academy, Saint-
Petersburg, Russian Federation, 3 State Pediatric Medical Academy, Saint-
Petersburg, Russian Federation, 4 St.- Petersburg Electrotechnical University,
Saint-Petersburg, Russian Federation, 5 Research Center for People, who lived
in Blockaded Leningrad, Saint-Petersburg, Russian Federation, 6 St.- Petersburg
State Medical University, Saint-Petersburg, Russian Federation.
The higher levels of lipid peroxidation products in CAD patients could
be related to a higher susceptibility of their plasma lipoproteins to oxidation
and/or to a decrease of plasma antioxidant defenses.
We have investigated the associations of the SNPs of PON1 (Q192R,
L55M), Mn-SOD (Ala16Val) and CAT (C-262T) genes involved in oxidative
stress response with levels of total CH, LDL-CH and HDL-CH.
Materials: 228 men, survived miocardial infarction (MI) under the 45
(group I), 95 men with MI after 60 years (group II) and 115 healthy men
(group III); 74 angiographicaly diagnosed CAD women (group IV) and
85 women after 80 years without CAD (group V).
Genotypes were determined by PCR-RFLP.
The QR genotype of PON1 192 was more frequent in group I compared
to group IV (p=0,001), the frequency of MM genotype of PON1
55 were significantly lower in group V compared to group I (p=0,019).
Total cholesterol level was higher in QR patient, than in QQ and RR
carriers of group V (p=0,026).
There were no differences in genotype distribution of CAT C-262T
among our groups. But, T/T carriers of CAT had lower level of HDL-CH
in group IV (p=0,005).
The Val/Val genotype of Mn-SOD was more frequent in group III than
in group I (p=0.013). Concentration of LDL-CH in Val/Val genotype carriers
was lower compared to Ala/Ala or Ala/Val carriers (p=0.004) in
group I.
The genetic variants of PON1, Mn-SOD and CAT are associated with
lipoprotein levels in CAD patients in view of their sex and age.
P10.14
Investigation of COX-2 -765G→C promoter variants among
iranian and iraqi populations
F. Biramijamal1 , M. Soltani1 , A. Hossein-Nezhad1 , M. Sanati1 , S. j. Al-Awadi2 ,
A. Al-Zaag3 ;
1 2 NIGEB, Tehran, Islamic Republic of Iran, Baghdad University, Baghdad, Iraq,
3Baghdad University, Tehran, Iraq.
Cyclooxygenases-2 enzyme (COX-2) elevates in chronically inflamed
tissues. It converts arachidonic acid to prostaglandins. It has been
shown that the COX-2 -765G→C promoter polymorphism is associated
with decreased promoter activity, which results in decreased COX-2
expression and the response to non-steroidal anti-inflammatory drugs
(NSAIDs). In addition, it has been reported that this polymorphism is
associated with increased risks of several types of cancers and inflammatory
diseases.
The aim of the study is to determine the prevalence of the COX2 gene
polymorphism in different ethnic groups in Iran compared with those
from Baghdad city in Iraq. The study population was selected from
eight cities. After obtaining signed informed consents, blood samples
were collected. Genotyping was performed with PCR-RFLP and confirmed
with sequencing. Range of the C allele frequency was 11.4%