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Sipeky C.,University of Pécs | Csongei V.,University of Pécs | Jaromi L.,University of Pécs | Safrany E.,University of Pécs | And 5 more authors.
Drug Metabolism and Pharmacokinetics | Year: 2011

The genetic variability, haplotype profile and ethnic differences of MDR1 polymorphisms in healthy Roma and Hungarian populations were analyzed and the results were compared with those of other populations available from the literature. Healthy subjects (465 Roma and 503 Hungarian) were genotyped for C1236T, G2677T/A and C3435T variants of MDR1 by PCR-RFLP assay. Differences were found between the Roma and Hungarian populations in the frequencies of MDR1 1236 CC (20.7 vs. 33.2%) and TT genotypes (30.8 vs. 21.9%), in T allele frequency (0.551 vs. 0.443) (p < 0.002), and in 3435T allele frequency (0.482 vs. 0.527, p < 0.04). Furthermore, the frequency of CGC, CGT and CTT haplotypes was significantly higher in the Hungarian population than in Roma (41.4 vs. 35.3%, 9.04 vs. 6.02% and 2.88 vs. 1.08%, respectively; p < 0.009), whereas the frequency of TGC and TTC haplotypes was higher in the Roma population than in the Hungarian (7.31 vs. 1.68% and 6.67 vs. 2.08%, respectively; p < 0.001). The prevalence of MDR1 polymorphisms in the Hungarian population is similar to that of other European populations; however, some differences were observed in the haplotype structures. In contrast, the Roma population differs from Hungarians, from Caucasians and from populations from India in the incidence of MDR1 common variants and haplotypes. © 2011 by the Japanese Society for the Study of Xenobiotics (JSSX).

Vereczkey A.,Human Reproduction Institute | Kosa Z.,Human Reproduction Institute | Csaky-Szunyogh M.,National Center for Healthcare Audit and Inspection | Urban R.,Eötvös Loránd University | Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases
Acta Obstetricia et Gynecologica Scandinavica | Year: 2013

Objectives. In general, epidemiological studies have evaluated cases with congenital cardiovascular abnormalities together. The aim of this study is to describe the birth outcomes of cases with isolated/single atrial septal defect type II (ASD-II, i.e. only a fossa ovalis defect) after surgical correction or lethal outcome in the light of maternal sociodemographic data. Design. Comparison of birth outcomes and maternal characteristics of cases with ASD-II and controls without defect. Setting. The population-based Hungarian Case-Control Surveillance of Congenital Abnormalities. Population. Hungarian newborn infants with or without ASD-II. Methods. Medically recorded birth outcomes, maternal age and birth order were evaluated. Marital and employment status was based on maternal information. The lifestyle factors were analyzed in a subsample of mothers visited at home based on a personal interview with mothers and their close relatives, and the family consensus was accepted. Main outcome measures. Mean gestational age at delivery and birthweight, rate of preterm birth and low birthweight, maternal age, birth order, marital and employment status. Results. The evaluation of 471 cases with ASD-II and 38 151 controls without any defects showed a female excess in cases with ASD-II, having shorter gestational age and lower mean birthweight, and thus a higher rate of preterm births and low birthweight. Conclusions. Intrauterine growth restriction and shorter gestational age were found in cases with ASD-II, particularly in female children. These factors may have a general developmental process in which there was not closure of the foramen ovale, thus echocardiographic screening of these babies might be of value. © 2012 The Authors Acta Obstetricia et Gynecologica Scandinavica © 2012 Nordic Federation of Societies of Obstetrics and Gynecology.

Metneki J.,National Center for Healthcare Audit and Inspection | Tarnoki A.D.,Semmelweis University | Tarnoki D.L.,Semmelweis University | Littvay L.,Central European University | And 2 more authors.
Twin Research and Human Genetics | Year: 2011

Our aim in this study is to describe the characteristics of sexual development in twins and estimate the role of heritability and environmental factors as causes of certain sexual disorders. Two hundred and ten adult same-sex twin pairs (92 monozygotic [MZ] female, 41 MZ male, 55 dizygotic [DZ] female and 22 DZ male pairs) were involved in the study. Data were collected in 1982 by self-administered questionnaires that included items on sexual maturation, sexual life, contraception, mutual sexual activity within twin pairs and alcohol use. The ratio of married to unmarried twins was nearly the same in MZs and DZs, with the exception that the divorce rate was higher in MZ female twins (14%), and DZ and male twins were slightly more likely to be single. Menarche was later in twins compared to non-twin Hungarian women. 57% of MZs experienced menarche within 3 months of each other, 77% within 6 months while it occurred for 30% and 43% respectively in DZs. The first seminal emission indicated some delay in male twins compared with the Hungarian general population sample. MZ first kisses occurred later than DZ's first kisses. The same was true for the first petting, masturbation and first sexual intercourse. Anorgasmy is 27% heritable but the estimate is not statistically significant. Concordance rate for premature ejaculation in MZs was greater than in DZs but the structural equation model showed significant misfit. Age at menarche appeared to be strongly heritable.

Vereczkey A.,Human Reproduction Institute | Kosa Z.,Human Reproduction Institute | Csaky-Szunyogh M.,National Center for Healthcare Audit and Inspection | Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases
Birth Defects Research Part A - Clinical and Molecular Teratology | Year: 2013

The role of possible environmental factors in the origin of congenital heart defects is unclear in the vast majority of patients. The objective of this study was to describe the birth outcomes and risk factors in isolated atrioventricular canal defect (AVCD) cases. METHODS: Medically recorded birth outcomes, maternal age, parity, acute and chronic maternal diseases with related drug treatments and folic acid/multivitamin supplementation were evaluated in isolated AVCD cases. The diagnosis of AVCD was based on the autopsy report or surgical description in the population-based Hungarian Case-Control Surveillance of Congenital Abnormalities, between 1980 and 1996. RESULTS: The birth outcomes and exposures of 77 isolated AVCD cases were compared with 38,151 controls without defect. Mean gestational age at delivery (38.6 week) and birth weight (2992 g), rate of preterm birth (20.8%) and low birthweight (23.4%) of cases with a female excess (59.7%) differed significantly from the controls. Mothers of cases had higher parity, higher prevalence of conduction disorders/cardiac dysrhythmias and chronic hypertension. The high doses of folic acid in early pregnancy associated with a reduced rate of AVCD. CONCLUSIONS: Conduction disorders/cardiac dysrhythmias and chronic hypertension of mothers may have a role in the origin of AVCD, while high doses of folic acid in early pregnancy may reduce the risk of the development of AVCD. © 2013 Wiley Periodicals, Inc.

Vereczkey A.,Human Reproduction Institute | Kosa Z.,Human Reproduction Institute | Csaky-Szunyogh M.,National Center for Healthcare Audit and Inspection | Urban R.,Eötvös Loránd University | Czeizel A.E.,Foundation for the Community Control of Hereditary Diseases
Central European Journal of Medicine | Year: 2012

The objective of our project is to reveal the possible etiological factors of different congenital cardiovascular abnormalities. In this study, we evaluated single ventricular septal defect (VSD) after surgical correction or with lethal outcome. The birth outcomes of these cases in the function of maternal socio-demographic features were evaluated. Data are based on 1,659 VSD cases, 2,534 matched controls and 38,151 all controls without any defects, in addition in the mothers of 19,393 malformed controls with other isolated defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. VSD had mild female excess with a higher rate of preterm birth and mainly low birth weight indicating intrauterine growth restriction of affected fetuses, particularly in males and full-term or average weighted cases. The mothers of cases with VSD had lower socioeconomic status and higher rate of smoking and particularly drinking habit. The evaluation of medically recorded pregnancy complications showed an association of gestational diabetes with a higher risk of VSD. In conclusion, the association of small localized size of VDS and obvious fetal growth restriction needs further explanation in these cases, while gestational diabetes, lower socioeconomic status and adverse lifestyle of pregnant women may have a role in the origin of VSD. © Versita Sp. z o.o.

Osztovits J.,Bajcsy Zsilinszky Hospital | Horvath T.,Semmelweis University | Littvay L.,Central European University | Steinbach R.,Semmelweis University | And 6 more authors.
Diabetic Medicine | Year: 2011

Aims Cardiovascular autonomic function is often assessed in patients with diabetes by measuring heart rate variability and baroreflex sensitivity, the heritability of which is not fully understood. The present study was aimed to determine the effects of genetic and environmental factors on heart rate variability and baroreflex sensitivity in monozygotic and dizygotic adult healthy twin pairs. Methods A total of 101 (63 monozygotic, 38 dizygotic) adult twin pairs (n=202; mean age 44.3years) were investigated. Anthropometric variables and serum metabolic markers were measured, while environmental characteristics were evaluated by questionnaires. Linear and spectral indices of heart rate variability and baroreflex sensitivity were determined by non-invasive methods. All measurements were adjusted for age and gender (model1) and for all significantly relevant covariates (model2). Heritability A-C-E structural equation models were used for characterizing the proportion of additive genetic, shared and unshared environmental influences. Results Genetic influence of different cardiovascular autonomic indices was estimated between 10.3 and 39.4%, common environmental influence was found between 0.0 and 33.2%, while unshared environmental influence was observed between 60.6 and 81.4% in model1 analysis. In multivariable-adjusted heritability estimates (model2), the magnitude of the genetic effects decreased to 0.0%, common environmental influence was nearly unchanged (values between 4.4 and 14.5%), while unshared environmental influence slightly increased (values between 85.5 and 96.5%). Conclusions Unshared environmental but not genetic factors have substantial influence on cardiovascular autonomic function, suggesting that appropriate treatment of all modifiable environmental factors is of importance in order to prevent or ameliorate cardiovascular autonomic neuropathy. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

Jermendy G.,Bajcsy Zsilinszky Hospital | Horvath T.,Semmelweis University | Littvay L.,Central European University | Steinbach R.,Semmelweis University | And 5 more authors.
Cardiovascular Diabetology | Year: 2011

Background: Both genetic and environmental factors play a role in the pathogenesis of type 2 diabetes and cardiovascular diseases. The magnitude of genetic and environmental influences may vary in different populations and can be investigated by twin studies.Methods: In this cross-sectional study, 101 (63 monozygotic and 38 dizygotic) adult twin pairs (n = 202; mean age: 44.3 ± 15.8 years) were investigated. Past medical history was recorded and physical examination was performed. Fasting venous blood samples were taken for measuring laboratory parameters. For assessing heritability of 14 cardiovascular risk factors, the structural equation (A-C-E) model was used.Results: The following risk factors were highly (> 70.0%) or moderately (50.0 - 69.0%) heritable: weight (88.1%), waist circumference (71.0%), systolic blood pressure (57.1%), diastolic blood pressure (57.7%), serum creatinine (64.1%), fibrinogen (59.9%), and serum C-reactive protein (51.9%). On the other hand, shared and unique environmental influences had the highest proportion of total phenotypic variance in serum total cholesterol (46.8% and 53.2%), serum HDL-cholesterol (58.1% and 14.9%), triglycerides (0.0% and 55.9%), fasting blood glucose (57.1% and 42.9%), fasting insulin (45.4% and 54.5%), serum uric acid (46.0% and 31.3%), and serum homocysteine (71.8% and 28.2%, respectively).Conclusion: Some cardiometabolic risk factors have strong heritability while others are substantially influenced by environmental factors. Understanding the special heritability characteristics of a particular risk factor can substantiate further investigations, especially in molecular genetics. Moreover, identifying genetic and environmental contribution to certain cardiometabolic risk factors can help in designing prevention and treatment strategies in the population investigated. © 2011 Jermendy et al; licensee BioMed Central Ltd.

PubMed | University of Perugia, National Center for Healthcare Audit and Inspection, Bajcsy Zsilinszky Hospital, Semmelweis University and Central European University
Type: Journal Article | Journal: Hypertension research : official journal of the Japanese Society of Hypertension | Year: 2014

Arterial stiffness is an independent predictor of cardiovascular, cerebrovascular and all-cause mortality. Quantifying the genetic influence on the stiff arterial phenotype allows us to better predict the development of arterial stiffness. In this study, we aimed to determine the heritability of carotid artery stiffness in healthy twins. We studied 98 twin pairs of both sexes. We determined carotid artery stiffness locally using echo tracking and applanation tonometry. We estimated the heritability of stiffness parameters using structural equation modeling. The carotid distensibility coefficient showed the highest heritability (64%, 95% confidence interval 45-77%). The incremental elastic modulus, compliance and stiffness index also showed substantial heritability (62%, 61% and 58%, respectively). The remaining 36-42% phenotypic variance was attributed to unshared environmental effects. Genetic influence appears to dominate over environmental factors in the development of carotid artery stiffness. Environmental factors may have an important role in favorably influencing the genetic predisposition for accelerated arterial stiffening.

Juhasz E.,Semmelweis University | Beres J.,National Center for Healthcare Audit and Inspection | Kanizsai S.,Semmelweis University | Nagy K.,Semmelweis University
Pathology and Oncology Research | Year: 2012

Frequencies of genetic polymorphisms of the three most frequent HIV-1 resistance-conferring alleles playing an important role in HIV-1 pathogenesis were analysed in Vlach Gypsy populations living in Hungary, as the largest minority. Mutations in the encoding genes, such as CCR5-Δ32, CCR2-64I and SDF1-3′A are shown to result in protective effects against HIV-1 infection and disease progression. 560 samples collected from Vlach Gypsy individuals living in 6 North-East Hungarian settlements were genotyped by PCR-RFLP method. Overall allele frequencies of CCR5-Δ32, CCR2-64I and SDF1-3′A were found as 0.122, 0.186 and 0.115 respectively. All the observed genotype frequencies were in accordance with Hardy-Weinberg equilibrium. In regions, however, Vlach Gypsies live in majority and in ethnically homogenous communities, a higher CCR5-Δ32 mutations were found, with allele frequencies of 0.148 and 0.140 respectively, which are remarkably higher than those in general Hungarian people, and ten times higher than in regions of North-Western India from where present day Hungarian Gypsies originated in the Middle Ages. In the background of this higher CCR5-Δ32 allele frequency in the population analysed in our study a genetic founder effect could be assumed. Allele frequency of CCR2-64I was found to be among the highest in Europe. SDF1-3′A allele frequency in Vlach Gypsies was significantly lower than in ethnic Hungarians. 63% of the total 560 individuals tested carried at least one of the mutations studied. These results could partially explain the low incidence of HIV/AIDS among Vlach Gypsies in Hungary. © Arányi Lajos Foundation 2011.

Szabo N.,University of Szeged | Gergev G.,University of Szeged | Valek A.,National Center for Healthcare Audit and Inspection | Eller J.,University of Szeged | And 2 more authors.
Child's Nervous System | Year: 2013

Purpose: Primary prevention by periconceptional folic acid supplementation can significantly reduce the risk of neural tube defects. EUROCAT, the European network of population-based registries for the epidemiologic surveillance of congenital anomalies, lacks sufficient data on the birth prevalence of neural tube defects in Hungary before and after the promotion of primary prevention by folic acid. Our aims were to compare the birth prevalence of neural tube defects (myelomeningocele, anencephaly and encephalocele) over two 12-year periods in South-Eastern Hungary. Further aims were to compare our data to those ones in other areas in Europe. Methods: Data were collected from the databases of the Department of Hungarian Congenital Abnormality Registry. The total and live birth prevalence rate of neural tube defects were calculated and compared over 1980-1991 and 1994-2005. In addition, the trends in the total birth prevalence, the number of live births and terminations for and stillbirths with neural tube defects were analysed throughout the period of 1994-2005. Results: A significant decline was found in the total and live birth prevalence of myelomeningocele, anencephaly and encephalocele over 1994-2005 compared to the period of 1980-1991. The total birth prevalence of neural tube defects, however, showed a trend of increase after 1994, with declining number of live births and increasing number of terminations for neural tube defects. Conclusion: Public health measures are warranted in order to replace termination of pregnancy with primary prevention in South-Eastern Hungary. © 2012 Springer-Verlag Berlin Heidelberg.

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