scholarly journals Prevalence of Some Genetic Risk Factors for Nicotine Dependence in Ukraine

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Vitalina Bashynska ◽  
Alexander Koliada ◽  
Kateryna Murlanova ◽  
Oksana Zahorodnia ◽  
Yuliia Borysovych ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Nicotine Dependence ◽  
Genetic Risk ◽  
Strong Risk Factor ◽  
Genotype Frequencies ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants ◽  
Larger Sample ◽  
European Populations

Tobacco smoking is known to be a strong risk factor for developing many diseases. The development and severity of smoking dependence results from interaction of environmental and lifestyle factors, psycho-emotional predispositions, and also from genetic susceptibility. In present study, we investigated polymorphic variants in genes contributed to nicotine dependence, as well as to increased impulsivity, known to be an important risk factor for substance use disorders, in Ukraine population. The genotype frequencies at CYP2A6, DNMT3B, DRD2, HTR2A, COMT, BDNF, GABRA2, CHRNA5, and DAT1 polymorphisms were determined in 171 Ukraine residents, and these data were compared with data for several other European populations and main ethnic groups. It has been found that genotype frequencies for all studied loci are in Hardy-Weinberg equilibrium in the Ukrainian population and correspond to the respective frequencies in European populations. These findings suggest a similar impact of these loci on nicotine dependence in Ukraine. Further studies with larger sample sizes are, however, needed to draw firm conclusions about the effect size of these polymorphisms.

Haemostatic Genetic Risk Factors in Arterial Thrombosis

2001 ◽  
Vol 86 (07) ◽  
pp. 374-385 ◽  
Author(s):  
Rachel Simmonds ◽  
José Hermida ◽  
Suely Rezende ◽  
David Lane
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Genetic Polymorphism ◽  
Genetic Risk ◽  
Arterial Thrombosis ◽  
Membrane Glycoprotein ◽  
Thrombotic Disease ◽  
Integral Role ◽  
Technical Simplicity ◽  
Digital Nature

SummaryHaemostasis plays an integral role in arterial thrombotic disease. However, establishing which of the factors are risk factors has proven surprisingly difficult. Because of its technical simplicity and digital nature, the study of haemostatic polymorphisms as risk factors has grown in popularity. Once established as a risk factor, a genetic polymorphism has the potential to aid selective prophylaxis and therapy of disease. Numerous reports have now been published on polymorphisms of coagulation and fibrinolytic factors, of coagulation and fibrinolytic inhibitory proteins, and of platelet membrane glycoprotein receptors. This article describes the polymorphisms and evaluates the results of these studies using the premises of consistency of within-report genotype/phenotype/disease relationships and consistency of outcome between studies. Many studies have been only of association between polymorphisms and disease, a type of study that is prone to error. Furthermore, the collective outcome of these studies has primarily been inconsistent. It is concluded that despite the early promise of polymorphisms as risk factors, fresh approaches differing in scale and design are now required to clarify their possible importance.

scholarly journals Risk Factors of Sectio Caesarea Delivery at Djafar Harun Hospital

2021 ◽  
Vol 4 (1) ◽  
pp. 72-78
Author(s):  
Samsi Burhan ◽  
Agusrinal ◽  
Ika Sartika ◽  
Asmurti
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Placenta Previa ◽  
Sampling Technique ◽  
Sectio Caesarea ◽  
Ratio Test ◽  
Study Approach ◽  
Strong Risk Factor ◽  
Study Population ◽  
Narrow Pelvis

The number of mothers giving birth with sectio caesarae delivery at BLUD R.S H.M Djafar Harun North Kolaka in 2015 was 254 people, then increased in 2016 to 521 people. The purpose of this study was to analyze the risk factors for the incidence of Sectio Caesarea delivery at H.M Djafar Harun Hospital, North Kolaka. This type of research is an analytic observational study with a case-control study approach. The study population was 68 with a sample of 136 people using the Accidental Sampling Technique. Data analysis using the Odds Ratio test. The results of the risk analysis based on narrow pelvic factors showed the value of OR= 9,681; LL= 2,728; UL= 34,355, and then placenta previa factor showed the value of OR= 6,484; LL= 0,759; UL= 55,385. In conclusion, narrow pelvis is a strong risk factor and placenta previa is not a strong risk factor for Sectio Caesarea delivery. It is hoped that the hospital will seek to identify high-risk pregnancies, complications or pregnancy abnormalities so that they can be detected early so that they are able to more optimally handle complications during childbirth.

scholarly journals Prediction of bacterial vulvovaginitis in girls at different Tanner stages of sexual development

2019 ◽  
pp. 105-111 ◽  
Author(s):  
AV Kazakova ◽  
EV Uvarova ◽  
LV Limareva ◽  
AA Trupakova ◽  
AI Mishina
Keyword(s):  
Risk Factors ◽  
Sexual Development ◽  
Functional Model ◽  
Vaginal Microbiota ◽  
Prevention Measures ◽  
Young Females ◽  
Genotype Frequencies ◽  
Polymorphic Variants ◽  
Polymerase Chain ◽  
Based Medicine

At present, there is a paucity of research studies that comprehensively investigate the factors causing vulvovaginitis in young females. The aim of this work was to propose an algorithm for predicting the risk of vulvovaginitis in young girls and adolescents. The study recruited 252 healthy girls, who were stratified into a few groups depending on their sexual development on the Tanner scale. The composition of vaginal microbiota was determined in all the participants using real-time polymerase chain reaction (PCR); distribution of allele and genotype frequencies was assessed for the polymorphic variants of genes coding for pro- and anti-inflammatory cytokines. Based on the obtained data, we created a functional model for predicting the risk of vulvovaginitis in girls at different stages of sexual development. Favorable risk factors for Tanner I girls included predominance of obligate anaerobes in vaginal microbiota and the polymorphic IL10 variant (C-819T) homozygous for TT. The sensitivity of the model was 80%, its specificity was 78%. Favorable risk factors for prepubertal and pubertal girls included predominance of aerobes in the composition of vaginal microbiota and the presence of the TT allele in the polymorphic IL10 gene variant (C-3953T). The sensitivity of the model was 58.3%, whereas specificity, 94.1%. This study provides the rationale conforming with the principles of evidence-based medicine for using prevention measures in the groups at risk for vulvovaginitis at young age. The proposed measures allowed us to reduce the relapse rate of bacterial vulvovaginitis threefold.

P6214How to improve long-term prevention in young patients after myocardial infarction - the IPP-Y study

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
H Wienbergen ◽  
T Retzlaff ◽  
J Erdmann ◽  
S Michel ◽  
L A Mata Marin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Randomized Trial ◽  
Prevention Program ◽  
Genetic Risk ◽  
Ldl Cholesterol ◽  
Young Patients ◽  
Risk Scores ◽  
Risk Factor Control

Abstract Background Patients who experienced myocardial infarction (MI) at a young age are of special medical and socioeconomic interest; cardiovascular risk factor control to prevent recurrent events is crucial in this specific cohort. Objectives The purpose of the study was to evaluate long-term risk factor control in young MI-patients in clinical practice and investigate the effects of a modern intensive prevention program in a prospective randomized trial. In a genetic substudy it was analyzed if prevention effects were depending on individual genetic risk. Methods Patients who had MI at age of ≤45 years were revisited after a mean period of 5.7±4.0 years to evaluate long-term risk factor control. Furthermore a 12-months intensive prevention program in young MI-patients (IPP-Y), coordinated by non-physician prevention assistants and including personal teachings, telephone contacts, clinical and telemetric control of risk factors, was compared to usual care in a randomized trial. Primary endpoint of the randomized trial was prevention success, defined as improvement of one of the risk factors smoking, LDL cholesterol or physical inactivity without deterioration of the others. As the opposite prevention failure was defined as deterioration of one of the risk factors without improvement of the others. Genetic risk was assessed by polygenetic risk scores, based on 163 SNPs. Results Only a minority of the 277 young patients after MI achieved guideline-recommended risk factor targets at long-term follow-up visits: mean body mass index was 29.9±5.1 kg/m2, just 14.8% had a body mass index <25 kg/m2. More than one third (38.3%) were persistent or recurrent smokers. Mean LDL cholesterol level was 94±38 mg/dl, only 27.1% of the patients achieved LDL cholesterol levels <70 mg/dl. However, the long-term prevention program IPP-Y led to a higher rate of the primary endpoint prevention success (IPP-Y: 49% vs. UC: 27%, p<0.05) and a lower rate of prevention failure (IPP-Y: 15% vs. UC: 38%, p<0.05) compared to usual care after 12 months (see figure). Telemetric control of risk factors as part of the prevention program was used by 71.4% of the patients. In the genetic subanalysis prevention effects were found in both, patients with high genetic risk as well as patients with low genetic risk assessed by polygenetic risk scores (p=0.79 high vs. low genetic risk). Effects of IPP-Y during 12 months Conclusions To our knowledge this is the first study on young patients with MI that demonstrates insufficient long-term risk factor control in clinical practice and significant effects of an intensive prevention program. Prevention effects were independent from individual genetic risk. Acknowledgement/Funding This work was supported by the Stiftung Bremer Herzen, Bremen, Germany and the Stiftung Bremer Wertpapierbörse, Bremen, Germany

scholarly journals Common Genetic Risk of Major Depression and Nicotine Dependence: The Contribution of Antisocial Traits in a United States Veteran Male Twin Cohort

2007 ◽  
Vol 10 (3) ◽  
pp. 470-478 ◽  
Author(s):  
Qiang Fu ◽  
Andrew C. Heath ◽  
Kathleen K. Bucholz ◽  
Michael J. Lyons ◽  
Ming T. Tsuang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Major Depression ◽  
Predominantly White ◽  
Nicotine Dependence ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Diagnostic Interview ◽  
Genetic Influences ◽  
Vietnam Era ◽  
Shared Genetic

AbstractMany studies that found associations between depression and nicotine dependence have ignored possible shared genetic influences associated with antisocial traits. The present study examined the contribution of genetic and environmental effects associated with conduct disorder (CD) and antisocial personality disorder (ASPD) to the comorbidity of major depression (MD) and nicotine dependence (ND). A telephone diagnostic interview, the Diagnostic Interview Schedule-III-R, was administered to eligible twins from the Vietnam Era Twin (VET) Registry in 1992. Multivariate genetic models were fitted to 3360 middle-aged and predominantly white twin pairs (1868 monozygotic, 1492 dizygotic pairs) of which both members completed the pertinent diagnostic interview sections. Genetic influences on CD accounted for 100%, 68%, and 50% of the total genetic variance in risk for ASPD, MD and ND, respectively. After controlling for genetic influences on CD, the partial genetic correlation between MD and ND was no longer statistically significant. Nonshared environmental contributions to the comorbidity among these disorders were not significant. This study not only demonstrates that the comorbidity between ND and MD is influenced by common genetic risk factors, but also further suggests that the common genetic risk factors overlapped with those for antisocial traits such as CD and ASPD in men.

Gene-Gene and Gene-Environment Interactions Determine Risk of Thrombosis in Families With Inherited Antithrombin Deficiency

Blood ◽  
1999 ◽  
Vol 94 (8) ◽  
pp. 2590-2594 ◽  
Author(s):  
H.H. van Boven ◽  
J.P. Vandenbroucke ◽  
E. Briët ◽  
F.R. Rosendaal
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Venous Thromboembolism ◽  
Genetic Risk ◽  
Factor V Leiden ◽  
Genetic Defects ◽  
Factor V ◽  
Antithrombin Deficiency ◽  
Gene Environment ◽  
Genetic And Environmental Factors

To analyze inherited antithrombin deficiency as a risk factor for venous thromboembolism in various conditions with regard to the presence or absence of additional genetic or acquired risk factors, we compared 48 antithrombin-deficient individuals with 44 nondeficient individuals of 14 selected families with inherited antithrombin deficiency. The incidence of venous thromboembolism for antithrombin deficient individuals was 20 times higher than among nondeficient individuals (1.1% v 0.05% per year). At the age of 50 years, greater than 50% of antithrombin-deficient individuals had experienced thrombosis compared with 5% of nondeficient individuals. Additional genetic risk factors, Factor V Leiden and PT20210A, were found in more than half of these selected families. The effect of exposure to 2 genetic defects was a 5-fold increased incidence (4.6% per year; 95% confidence interval [CI], 1.9% to 11.1%). Acquired risk factors were often present, determining the onset of thrombosis. The incidence among those with exposure to antithrombin deficiency and an acquired risk factor was increased 20-fold (20.3% per year; 95% CI, 12.0% to 34.3%). In conclusion, in these thrombophilia families, the genetic and environmental factors interact to bring about venous thrombosis. Inherited antithrombin deficiency proves to be a prominent risk factor for venous thromboembolism. The increased risks among those with exposure to acquired risk factors should be considered and adequate prophylactic anticoagulant therapy in high-risk situations seems indicated in selected families with inherited antithrombin deficiency.

scholarly journals Interplay of genetic risk factors and parent monitoring in risk for nicotine dependence

Addiction ◽  
2009 ◽  
Vol 104 (10) ◽  
pp. 1731-1740 ◽  
Author(s):  
Li-Shiun Chen ◽  
Eric O. Johnson ◽  
Naomi Breslau ◽  
Dorothy Hatsukami ◽  
Nancy L. Saccone ◽  
...  
Keyword(s):  
Risk Factors ◽  
Nicotine Dependence ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Parent Monitoring

scholarly journals Factores de riesgo genético y diagnóstico prenatal

2021 ◽  
Vol 81 (03) ◽  
pp. 209-225
Author(s):  
Alisandra Morales de Machín ◽  
Karelis Urdaneta ◽  
Lisbeth Borjas ◽  
Karile Méndez ◽  
Enrique Machín ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Genetic Counseling ◽  
Genetic Risk ◽  
Diagnostic Procedures ◽  
Genetic Risk Factors ◽  
Genetic Risk Factor ◽  
Congenital Defects ◽  
Prenatal Diagnostic ◽  
History Of

Objective: To identify genetic risk factors and frequency and to describe congenital defects of the fetus. Methods: The research was conducted at the Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. We studied patients who attend to the prenatal genetic clinic. According to the Genetic risk factors Identified, it indicated different prenatal diagnostic procedures: fetal echography, fetal echocardiography, triple maternal serum marker, amniocentesis for fetal karyotype and molecular analysis. Results: We included 568 patients. 79.05% of the total showed only one genetic risk factor and the 20.95% two or more. The advanced maternal age was the most frequent genetic risk factor found (40.85%), followed by first-degree family history with a congenital defect (35.21%), abnormal fetal echography (13.73%), exposure to teratogenic agents (10.39%), history of recurrent abortion (7.04%), history of fetal death (4.22%), consanguinity (1.93%), and history of neonatal death (1.76%). They were diagnosed 101 fetuses with congenital defects, one balanced translocation, two fetal deaths and 26 spontaneous abortions. Conclusion: The genetic risk factors identification, served as a starting point to indicate prenatal diagnostic procedures allowed a health evaluation of the fetus and adequate genetic counseling. Key words: Prenatal diagnosis, Risk factors, Genetic counseling.

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