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.

scholarly journals A Swedish national adoption study of criminality

2013 ◽  
Vol 44 (9) ◽  
pp. 1913-1925 ◽  
Author(s):  
K. S. Kendler ◽  
S. Larsson Lönn ◽  
N. A. Morris ◽  
J. Sundquist ◽  
N. Långström ◽  
...  
Keyword(s):  
Risk Factors ◽  
Environmental Risk ◽  
Genetic Risk ◽  
Criminal Behavior ◽  
Risk Index ◽  
Genetic Risk Factors ◽  
Medical Illness ◽  
Adoption Study ◽  
Biological Parents ◽  
History Of

BackgroundTo clarify the role of genetic and environmental factors in criminal behavior (CB), we examined all CB and violent and non-violent subtypes (VCB and NVCB, respectively) in a Swedish national sample of adoptees and their relatives.MethodCB was defined by a conviction in the Swedish Crime Register with standard definitions for VCB and NVCB subtypes. We examined adoptees born 1950–1991 (n = 18 070) and their biological (n = 79 206) and adoptive (n = 47 311) relatives.ResultsThe risk for all CB was significantly elevated in the adopted-away offspring of biological parents of which at least one had CB [odds ratio (OR) 1.5, 95% confidence interval (CI) 1.4–1.6] and in the biological full and half-siblings of CB adoptees (OR 1.4, 95% CI 1.2–1.6 and OR 1.3, 95% CI 1.2–1.3, respectively). A genetic risk index (including biological parental/sibling history of CB and alcohol abuse) and an environmental risk index (including adoptive parental and sibling CB and a history of adoptive parental divorce, death, and medical illness) both strongly predicted probability of CB. These genetic and environmental risk indices acted additively on adoptee risk for CB. Moderate specificity was seen in the transmission of genetic risk for VCB and NVCB between biological parents and siblings and adoptees.ConclusionsCB is etiologically complex and influenced by a range of genetic risk factors including a specific liability to CB and a vulnerability to broader externalizing behaviors, and by features of the adoptive environment including parental CB, divorce and death. Genetic risk factors for VCB and NVCB may be at least partially distinct.

scholarly journals Prothrombin Arg541Trp Mutation Leads to Defective PC (Protein C) Pathway Activation and Constitutes a Novel Genetic Risk Factor for Venous Thrombosis

2020 ◽  
Vol 40 (2) ◽  
pp. 483-494 ◽  
Author(s):  
Xi Wu ◽  
Jing Dai ◽  
Xiaoqian Xu ◽  
Fang Li ◽  
Lei Li ◽  
...  
Keyword(s):  
Risk Factor ◽  
Family History ◽  
Venous Thrombosis ◽  
Genetic Risk ◽  
Protein C ◽  
Positive Family History ◽  
Genetic Risk Factor ◽  
Procoagulant Activity ◽  
Factor V Leiden Mutation ◽  
History Of

Objective: Defective PC (protein C) pathway predisposes patients to venous thromboembolism (VTE) and is mostly, but not exclusively, attributed to hereditary PC or PS (protein S) deficiencies and activated PC resistance caused by factor V Leiden mutation. Approach and Results: In a patient with acute mesenteric venous thrombosis and positive family history of VTE associated with the impaired PC pathway function determined by thrombin generation test, we identified a novel heterozygous prothrombin mutation p.Arg541Trp. Two more patients with positive family history of VTE carrying the same mutation were identified in a cohort of another 373 unrelated patients, making an overall prevalence of 0.8%. Family investigation revealed 11 individuals in the 3 pedigrees harboring the heterozygous prothrombin p.Arg541Trp mutation, and 8 of them (72%) had experienced episodes of VTE. Functional studies indicated the mutation moderately decreased procoagulant activity of prothrombin and had mild impact on the inactivation of thrombin by its inhibitor antithrombin. However, the amino acid residue substitution significantly compromised PC activation by thrombin, both in the absence and presence of soluble thrombomodulin, and thus rendered prothrombin function procoagulant biased. Conclusions: In summary, the prothrombin p.Arg541Trp mutation constitutes a new genetic risk factor of VTE by impairing function of PC pathway and tilting thrombin’s procoagulant activity over anticoagulant function.

scholarly journals Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors

2010 ◽  
Vol 130 (4) ◽  
pp. 979-984 ◽  
Author(s):  
Ulrike Hüffmeier ◽  
Judith G.M. Bergboer ◽  
Tim Becker ◽  
John A. Armour ◽  
Heiko Traupe ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Genetic Risk ◽  
Genetic Risk Factors

Genetic and environmental risk factors for depression assessed by subject-rated Symptom Check List versus Structured Clinical Interview

2001 ◽  
Vol 31 (8) ◽  
pp. 1413-1423 ◽  
Author(s):  
D. L. FOLEY ◽  
M. C. NEALE ◽  
K. S. KENDLER
Keyword(s):  
Risk Factors ◽  
Major Depression ◽  
Environmental Risk ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Depression Symptoms ◽  
Check List ◽  
Lifetime History ◽  
History Of ◽  
Symptom Check List

Background. It is not known if a subject's characteristic level of self-rated depression symptoms index their genetic or environmental liability to major depressive disorder when measurement error and other occasion-specific influences are taken into account.Method. Monozygotic (N = 408) and dizygotic (N = 295) adult female twin pairs from a population-based registry were surveyed twice with an average follow-up interval of 61 months. At each occasion subjects completed a structured clinical interview (SCID) to assess lifetime history of major depression and the subject-rated Symptom Check List (SCL) to assess current level of depressive symptomatology. A bivariate measurement model was used to estimate the genetic and environmental correlations between liability to reliably diagnosed lifetime history of major depression and the characteristic or temporally stable SCL depression score.Results. The genetic and non-familial environmental correlation between liability to reliably diagnosed major depression and the characteristic level of SCL depression symptoms (and the proportion of variance shared between measures) is +0·70 and +0·24 respectively.Conclusions. When allowance is made for diagnostic unreliability and temporal fluctuations in the level of subject-rated symptoms, 70% of the variance in genetic risk factors and 24% of the variance in environmental risk factors is shared by a diagnosis of lifetime major depression and total SCL depression symptom score. SCL depression scores may therefore be a useful screening measure for many of the genetic risk factors which influence liability to major depression.

scholarly journals Suicide and genes: Commentary on Hawton and van Heeringen (Lancet 2009; 373: 1372-81)

2021 ◽  
Author(s):  
Martin Voracek
Keyword(s):  
Risk Factors ◽  
Genetic Risk ◽  
Mental Health Literacy ◽  
Current Knowledge ◽  
Genetic Risk Factors ◽  
Research Designs ◽  
Familial Clustering ◽  
History Of ◽  
Genetic Loading ◽  
Health Agenda

Hawton’s and van Heeringen’s seminar on suicide is a rich source of current knowledge on the topic and highly useful for generalists. However, genetic risk factors for suicide are underappreciated in the seminar. Although family history of suicide is mentioned as important and genetic loading is listed under distal risk factors, their close connection is not emphasised: familial clustering of suicide is partly due to genetic risk factors. Convergent evidence towards this end has emerged from distinctly different genetically informative research designs. Appropriate consideration of these insights is an important public health agenda and matters for mental health literacy, as international surveys suggest disbelief in the genetics of suicide is widespread among medical and psychology undergraduates and in the general population.

scholarly journals Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

2021 ◽  
Author(s):  
Tomoko Nakanishi ◽  
Sara Pigazzini ◽  
Frauke Degenhardt ◽  
Mattia Cordioli ◽  
Guillaume Butler-Laporte ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Respiratory Failure ◽  
Genetic Risk ◽  
Risk Allele ◽  
Genetic Risk Factor ◽  
Severe Respiratory Failure ◽  
Individual Level ◽  
Level Data ◽  
Age Dependent

AbstractBackgroundThere is considerable variability in COVID-19 outcomes amongst younger adults—and some of this variation may be due to genetic predisposition. We characterized the clinical implications of the major genetic risk factor for COVID-19 severity, and its age-dependent effect, using individual-level data in a large international multi-centre consortium.MethodThe major common COVID-19 genetic risk factor is a chromosome 3 locus, tagged by the marker rs10490770. We combined individual level data for 13,424 COVID-19 positive patients (N=6,689 hospitalized) from 17 cohorts in nine countries to assess the association of this genetic marker with mortality, COVID-19-related complications and laboratory values. We next examined if the magnitude of these associations varied by age and were independent from known clinical COVID-19 risk factors.FindingsWe found that rs10490770 risk allele carriers experienced an increased risk of all-cause mortality (hazard ratio [HR] 1·4, 95% confidence interval [CI] 1·2–1·6) and COVID-19 related mortality (HR 1·5, 95%CI 1·3–1·8). Risk allele carriers had increased odds of several COVID-19 complications: severe respiratory failure (odds ratio [OR] 2·0, 95%CI 1·6-2·6), venous thromboembolism (OR 1·7, 95%CI 1·2-2·4), and hepatic injury (OR 1·6, 95%CI 1·2-2·0). Risk allele carriers ≤ 60 years had higher odds of death or severe respiratory failure (OR 2·6, 95%CI 1·8-3·9) compared to those > 60 years OR 1·5 (95%CI 1·3-1·9, interaction p-value=0·04). Amongst individuals ≤ 60 years who died or experienced severe respiratory COVID-19 outcome, we found that 31·8% (95%CI 27·6-36·2) were risk variant carriers, compared to 13·9% (95%CI 12·6-15·2%) of those not experiencing these outcomes. Prediction of death or severe respiratory failure among those ≤ 60 years improved when including the risk allele (AUC 0·82 vs 0·84, p=0·016) and the prediction ability of rs10490770 risk allele was similar to, or better than, most established clinical risk factors.InterpretationThe major common COVID-19 risk locus on chromosome 3 is associated with increased risks of morbidity and mortality—and these are more pronounced amongst individuals ≤ 60 years. The effect on COVID-19 severity was similar to, or larger than most established risk factors, suggesting potential implications for clinical risk management.FundingFunding was obtained by each of the participating cohorts individually.

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