scholarly journals Genome-wide estimates of heritability and genetic correlations in Essential Tremor

2019 ◽  
Author(s):  
Monica Diez-Fairen ◽  
Sara Bandres-Ciga ◽  
Gabrielle Houle ◽  
Mike A. Nalls ◽  
Simon L. Girard ◽  
...  
Keyword(s):  
Risk Factors ◽  
Essential Tremor ◽  
Genetic Risk Score ◽  
Genetic Correlations ◽  
Narrow Sense Heritability ◽  
Dominance Variance ◽  
Apply Genetic ◽  
Risk Variants ◽  
Using Data ◽  
The Impact

ABSTRACTDespite considerable efforts to identify disease-causing and risk factors contributing to essential tremor (ET), no comprehensive assessment of heritable risk has been performed to date. We use GREML-LDMS to estimate narrow-sense heritability due to additive effects (h2) and GREMLd to calculate non-additive heritability due to dominance variance (δ2) using data from 1,748 ET cases and 5,302 controls. We evaluate heritability per 10Mb segments across the genome and assess the impact of Parkinson’s disease (PD) misdiagnosis on heritability estimates. We apply genetic risk score (GRS) from PD and restless legs syndrome (RLS) to explore its contribution to ET risk and further assess genetic correlations with 832 traits by Linkage disequilibrium score regression. Our results show for the first time that ET is a highly heritable condition (h2=0.755, s.e=0.075) in which additive common variability plays a prominent role. In contrast, dominance variance shows insignificant effect on the overall estimates. Heritability split by 10Mb regions revealed increased estimates at chromosomes 6 and 21 suggesting that these may contain causative risk variants influencing susceptibility to ET. The proportion of genetic variance due to PD misdiagnosed cases was estimated to be 5.33%. PD and RLS GRS were not significantly predictive of ET case-control status demonstrating that despite overlapping symptomatology, ET does not seem to share genetic etiologies with PD or RLS. Our study suggests that most of ET genetic component is yet to be discovered and future GWAS will reveal additional risk factors that will improve our understanding of this disabling disorder.

scholarly journals Divorce Risk Factors Across Finnish Marriage cohorts, 1954-1989

2005 ◽  
pp. 151-164
Author(s):  
Juho Härkönen
Keyword(s):  
Risk Factors ◽  
Young Children ◽  
Educational Attainment ◽  
Discrete Time ◽  
Marital Stability ◽  
Event History ◽  
Using Data ◽  
The Impact ◽  
Divorce Risk

This paper examines whether there has been a change in the effects of three divorce risk factors, female educational attainment, cohabitation, and parity. Several theoretical reasons suggest such a change, but the existing evidence gives mixed results. First marriages of Finnish women married between 1954 and 1989 are analysed using data from the Fertility and Family Surveys (FFS), collected in 1989 and 1990. The results from the discrete-time event history models show that the effect of having children on marital stability has changed: the impact of having two children has become less evident, while the effect of having three children or more has increased. These trends hold after controlling for young children and premarital children. Some explanations for this shift are discussed.

scholarly journals The problems and limitations of cohort studies

Breathe ◽  
2014 ◽  
Vol 10 (4) ◽  
pp. 306-311 ◽  
Author(s):  
Warren Lenney ◽  
Francis J. Gilchrist ◽  
Aphrodite Kouzouna ◽  
Anand D. Pandyan ◽  
Val Ball
Keyword(s):  
Risk Factors ◽  
Lung Function ◽  
Cohort Studies ◽  
Chronic Obstructive ◽  
European Respiratory Society ◽  
Raw Data ◽  
Obstructive Pulmonary Disease ◽  
Chronic Respiratory Diseases ◽  
Using Data ◽  
The Impact

SummaryChronic obstructive pulmonary disease (COPD) is the third most common cause of mortality worldwide and it is important to discover whether risk factors can be identified from studies undertaken in childhood.Numerous longitudinal cohort studies have been developed in many parts of the world to better understand the long-term outcomes of chronic respiratory diseases. Using data they have generated, it should be possible to identify specific risk factors in children and develop a model to prioritise their importance when found, in order to consider ways to reduce the prevalence and/or severity of disease in adults. However, this does require the sharing of data within the field, as is happening in other related fields, such as the Virtual International Stroke Trial Archive (www.vista.gla.ac.uk). Pooling of the raw data could be very informative and an organisation such as the European Respiratory Society could play an important role in ensuring this happens.Unfortunately, cohort studies vary widely in their inclusion criteria, their methodology and the format in which lung function data are presented. The raw data required to develop a model to assess the impact of childhood risk factors on future lung function have not been made available from many of the published articles.Our initial belief that recognised risk factors are independent variables was naïve and a different approach is required to better understand their interdependence.

scholarly journals Hippocampal Volume Is Smaller In Female Double Carriers Of Two Strongest AD Genetic Risk Factors

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. 653-653
Author(s):  
Svetlana Ukraintseva ◽  
Vladimir Popov ◽  
Konstantin Arbeev ◽  
Hongzhe Duan ◽  
Olivia Bagley ◽  
...  
Keyword(s):  
Risk Factors ◽  
Genetic Risk ◽  
Statistical Significance ◽  
Genetic Risk Factors ◽  
Hippocampal Volume ◽  
Risk Variant ◽  
Risk Variants ◽  
Independent Effects ◽  
The Impact

Abstract Genetic risk factors for Alzheimer’s disease (AD) may facilitate AD-related changes in the brain long before AD clinical manifestation. While APOE4 was linked to a reduced hippocampal volume (HV) in a number of studies, the impact of rs2075650, another polymorphism strongly associated with AD, on HV is less clear. The rs2075650 (in TOMM40) is only in moderate to low LD with APOE4, and may have independent effects on HV or interact with APOE4. We studied associations of rs2075650 (G allele, risk factor for AD), rs429358 (C allele, proxy for APOE4), and their combinations, with right HV measured by MRI, among 10,738 women and 9,775 men aged 60-75, from UK Biobank. We found that right HV was significantly (p<0.02) smaller in women who carry both AD risk variants (rs2075650(G) and rs429358(C)), than in non-carriers of both of these variants, while having only one risk variant (G or C) didn’t clearly affect HV. The studied associations didn’t reach statistical significance in men. Our results suggest that rs2075650(G) and rs429358(C) may contribute synergistically to a reduction in hippocampus volume, in females only, and support the role of interactions between genetic risk factors for AD in sex differences in preclinical biomarkers of AD pathology.

Abstract 3176: Differerential Impact Of Acute Myocardial Risk Factors And Chronic Comorbidities On Use Of Guideline-recommended Therapies In Patients Presenting With Acute Coronary Syndromes

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Karen E Joynt ◽  
Luan Huynh ◽  
John Amarena ◽  
David Brieger ◽  
Steven Coverdale ◽  
...  
Keyword(s):  
Risk Factors ◽  
High Risk ◽  
Artery Bypass ◽  
Severity Of Illness ◽  
Killip Class ◽  
High Risk Patients ◽  
Risk Patients ◽  
Using Data ◽  
The Impact ◽  
To Receive

Background: Prior investigations show that patients presenting with ACS with high-risk features are less likely to receive evidence-based therapies (EBT). Current risk stratification tools combine acute and chronic risk factors (RF); these may contribute differently to receipt of proven therapies. Methods: Using data from a prospective audit of 2600 patients in Australia, the impact of acute myocardial RF (biomarker elevation, ECG changes, cardiac arrest, Killip class ≥ 2), chronic co-morbid RF (prior CHF, chronic lung disease, malignancy, prior CVA, GFR < 60, age > 75), and traditional RF on patient management were examined using logistic regression. Results: the best predictor of receipt of EBT was the number of myocardial RF; the best predictor of a low likelihood of receipt was the number of co-morbid RF (Table ). The presence of three or more myocardial RF conferred an OR of 2.21 for receiving clopidogrel and 4.3 for undergoing angiography, while the presence of four or more co-morbid RF lowered the OR to 0.47 for clopidogrel and 0.09 for angiography (Figure 1a /b ). Conclusions: High-risk patients may be less likely to receive EBT than low-risk patients, but this is driven by comorbid conditions rather than markers of severity of illness. Research is needed to validate these therapies in high-risk patients, and ongoing efforts at quality improvement should focus on high-risk populations. Figure 1a. Odds of receiving clopidogrel during hospitalization Figure 1b. Odds of receiving angiography during hospitalization Application of management recommendations within 24 hours of admission and at discharge, adjusted for cardiovascular risk factors and prior coronary artery bypass grafting.

scholarly journals Oligoclonal bands and age at onset correlate with genetic risk score in multiple sclerosis

2013 ◽  
Vol 20 (6) ◽  
pp. 660-668 ◽  
Author(s):  
Hanne F Harbo ◽  
Noriko Isobe ◽  
Pål Berg-Hansen ◽  
Steffan D Bos ◽  
Stacy J Caillier ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Genetic Risk ◽  
Genetic Risk Score ◽  
Age At Onset ◽  
Human Leukocyte ◽  
Oligoclonal Bands ◽  
Nucleotide Polymorphisms ◽  
Risk Variants ◽  
The Impact ◽  
Genetic Risk Variants

Background: Many genetic risk variants are now well established in multiple sclerosis (MS), but the impact on clinical phenotypes is unclear. Objective: To investigate the impact of established MS genetic risk variants on MS phenotypes, in well-characterized MS cohorts. Methods: Norwegian MS patients ( n = 639) and healthy controls ( n = 530) were successfully genotyped for 61 established MS-associated single nucleotide polymorphisms (SNPs). Data including and excluding Major Histocompatibility Complex (MHC) markers were summed to a MS Genetic Burden (MSGB) score. Study replication was performed in a cohort of white American MS patients ( n = 1997) and controls ( n = 708). Results: The total human leukocyte antigen (HLA) and the non-HLA MSGB scores were significantly higher in MS patients than in controls, in both cohorts ( P << 10−22). MS patients, with and without cerebrospinal fluid (CSF) oligoclonal bands (OCBs), had a higher MSGB score than the controls; the OCB-positive patients had a slightly higher MSGB than the OCB-negative patients. An early age at symptom onset (AAO) also correlated with a higher MSGB score, in both cohorts. Conclusion: The MSGB score was associated with specific clinical MS characteristics, such as OCBs and AAO. This study underlines the need for well-characterized, large cohorts of MS patients, and the usefulness of summarizing multiple genetic risk factors of modest effect size in genotype-phenotype analyses.

Accent Policy and Accent Modification Enterprises as Potential Indicators of Intercultural Power Relations: A Call for an Updated Research Agenda

2013 ◽  
Vol 3 (1) ◽  
pp. 22-33 ◽  
Author(s):  
Brynne D. Ovalle ◽  
Rahul Chakraborty
Keyword(s):  
International Relations ◽  
Identity Construction ◽  
Social Theory ◽  
Power Relations ◽  
Linguistic Diversity ◽  
Cultural Organization ◽  
Using Data ◽  
The Individual ◽  
The Impact ◽  
The Relationship

This article has two purposes: (a) to examine the relationship between intercultural power relations and the widespread practice of accent discrimination and (b) to underscore the ramifications of accent discrimination both for the individual and for global society as a whole. First, authors review social theory regarding language and group identity construction, and then go on to integrate more current studies linking accent bias to sociocultural variables. Authors discuss three examples of intercultural accent discrimination in order to illustrate how this link manifests itself in the broader context of international relations (i.e., how accent discrimination is generated in situations of unequal power) and, using a review of current research, assess the consequences of accent discrimination for the individual. Finally, the article highlights the impact that linguistic discrimination is having on linguistic diversity globally, partially using data from the United Nations Educational, Scientific and Cultural Organization (UNESCO) and partially by offering a potential context for interpreting the emergence of practices that seek to reduce or modify speaker accents.

Interculturalism and the Acceptance of Minority Groups

2020 ◽  
Vol 51 (2) ◽  
pp. 135-140 ◽  
Author(s):  
Maykel Verkuyten ◽  
Kumar Yogeeswaran
Keyword(s):  
Minority Groups ◽  
Psychological Research ◽  
Survey Experiment ◽  
Social Psychological ◽  
Negative Attitudes ◽  
Positive Attitudes ◽  
Social Psychological Research ◽  
Using Data ◽  
The Impact ◽  
Situational Effect

Abstract. Multiculturalism has been criticized and rejected by an increasing number of politicians, and social psychological research has shown that it can lead to outgroup stereotyping, essentialist thinking, and negative attitudes. Interculturalism has been proposed as an alternative diversity ideology, but there is almost no systematic empirical evidence about the impact of interculturalism on the acceptance of migrants and minority groups. Using data from a survey experiment conducted in the Netherlands, we examined the situational effect of promoting interculturalism on acceptance. The results show that for liberals, but not for conservatives, interculturalism leads to more positive attitudes toward immigrant-origin groups and increased willingness to engage in contact, relative to multiculturalism.

International Remittances and Private Healthcare in Kerala, India

2020 ◽  
Vol 17 (3) ◽  
pp. 445-460
Author(s):  
Mohd Imran Khan ◽  
Valatheeswaran C.
Keyword(s):  
Instrumental Variable ◽  
Capital Investment ◽  
Healthcare Expenditure ◽  
Healthcare Services ◽  
Private Healthcare ◽  
International Remittances ◽  
Variable Approach ◽  
Using Data ◽  
The Impact ◽  
Instrumental Variable Approach

The inflow of international remittances to Kerala has been increasing over the last three decades. It has increased the income of recipient households and enabled them to spend more on human capital investment. Using data from the Kerala Migration Survey-2010, this study analyses the impact of remittance receipts on the households’ healthcare expenditure and access to private healthcare in Kerala. This study employs an instrumental variable approach to account for the endogeneity of remittances receipts. The empirical results show that remittance income has a positive and significant impact on households’ healthcare expenditure and access to private healthcare services. After disaggregating the sample into different heterogeneous groups, this study found that remittances have a greater effect on lower-income households and Other Backward Class (OBC) households but not Scheduled Caste (SC) and Scheduled Tribe (ST) households, which remain excluded from reaping the benefit of international migration and remittances.

Stress, Cortisol and Suicide Risk

2019 ◽  
Author(s):  
Daryl Brian O'Connor
Keyword(s):  
Risk Factors ◽  
Suicidal Behavior ◽  
Suicide Risk ◽  
Stressful Events ◽  
Additional Risk ◽  
Global Health Issue ◽  
History Of ◽  
Hpa Axis Activity ◽  
The Impact

Suicide is a global health issue accounting for at least 800,000 deaths per annum. Numerous models have been proposed that differ in their emphasis on the role of psychological, social, psychiatric and neurobiological factors in explaining suicide risk. Central to many models is a stress-diathesis component which states that suicidal behavior is the result of an interaction between acutely stressful events and a susceptibility to suicidal behavior (a diathesis). This article presents an overview of studies that demonstrate that stress and dysregulated hypothalamic-pituitary-adrenal (HPA) axis activity, as measured by cortisol levels, are important additional risk factors for suicide. Evidence for other putative stress-related suicide risk factors including childhood trauma, impaired executive function, impulsivity and disrupted sleep are considered together with the impact of family history of suicide, perinatal and epigenetic influences on suicide risk.

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