The Implications of Genetics for Prevention and Intervention Programming.
Ontology highlight
ABSTRACT:
SUBMITTER: Musci RJ
PROVIDER: S-EPMC6392052 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Publications
The Implications of Genetics for Prevention and Intervention Programming.
Musci Rashelle J RJ Schlomer Gabriel G
Prevention science : the official journal of the Society for Prevention Research 20180101 1
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Project description:Hemoglobin A1c (HbA1c) is a biomarker used for population-level screening of type 2 diabetes (T2D) and risk stratification. Large-scale, genome-wide association studies have identified multiple genomic loci influencing HbA1c. We discuss the challenges of classifying these genomic loci as influencing HbA1c through glycemic or nonglycemic pathways, based on their probable biology and pleiotropic associations with erythrocyte traits. We show that putative nonglycemic genetic variants have a measurable, albeit small, impact on the classification of T2D status by HbA1c in white and Asian populations. Accounting for their effect on HbA1c may be relevant when screening populations with higher frequencies of nonglycemic HbA1c-altering alleles. As carriers of such HbA1c-altering alleles have HbA1c levels that may not accurately reflect overall glycemia, we describe how accounting for genotype may improve the performance of HbA1c in T2D prediction models and risk stratification, allowing for lifestyle intervention strategies to be directed towards those who are truly at elevated risk for developing T2D. In a Mendelian randomization framework, genetic variants can be used as instrumental variables to estimate causal relationships between HbA1c and T2D-related complications. This approach may help to support or refute HbA1c as an appropriate biomarker for long-term health outcomes in the general population.
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Project description:A vast body of research exists to demonstrate that obesity is a complex disorder with a strong genetic basis and a multifactorial etiology. Yet despite the overwhelming evidence that genes play an important role in the development of obesity, many people argue that the increasing prevalence of obesity is simply due to an abundance of palatable food and a dearth of opportunities for physical exercise. While activity and eating behaviors contribute substantially to the development of obesity, considering these to be the only etiologic factors is directly contradictory to what is now known about how eating and energy balance are regulated. Our understanding of the molecular processes controlling eating behavior, in particular, has accelerated exponentially in the last 10 years, and this is one area in which obesity genetics has made great progress. Our challenge is to understand more fully how genetic variation may interact with behavioral factors to influence the regulation of body weight and adiposity. Although exercise and diet strategies are used routinely for obesity treatment, there is a huge variability in how individuals respond to these interventions. There is also a substantial amount of evidence that such responses may also be regulated by genes. Understanding gene-response relationships is the key to developing more efficacious intervention and prevention programs for obesity.
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Project description:Statistical methods for genome-wide association studies (GWAS) continue to improve. However, the increasing volume and variety of genetic and genomic data make computational speed and ease of data manipulation mandatory in future software. In our view, a collaborative effort of statistical geneticists is required to develop open source software targeted to genetic epidemiology. Our attempt to meet this need is called the OPENMENDEL project (https://openmendel.github.io). It aims to (1) enable interactive and reproducible analyses with informative intermediate results, (2) scale to big data analytics, (3) embrace parallel and distributed computing, (4) adapt to rapid hardware evolution, (5) allow cloud computing, (6) allow integration of varied genetic data types, and (7) foster easy communication between clinicians, geneticists, statisticians, and computer scientists. This article reviews and makes recommendations to the genetic epidemiology community in the context of the OPENMENDEL project.
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Project description:Sebaceous carcinoma is an aggressive skin cancer with a 5-year overall survival rate of 78% for localized/regional disease and 50% for metastatic disease. The incidence of this cancer has been increasing in the United States for several decades, but the underlying reasons for this increase are unclear. In this article, we review the epidemiology and genetics of sebaceous carcinoma, including recent population data and tumor genomic analyses that provide new insights into underlying tumor biology. We further discuss emerging evidence of a possible viral etiology for this cancer. Finally, we review the clinical implications of recent advances in sebaceous carcinoma research for screening, prevention, and treatment.
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Project description:IntroductionIntersecting behavioral, social, and structural factors increase adolescent girls' (AG) and young women's (YW) HIV vulnerability. Yet, understanding of optimal intervention synergies remains limited. We identified intervention combinations that statistically maximized reductions in AGYW's HIV-related risk.MethodsUsing data collected in 2018 with Zambian AG (n = 487, aged 15-19 years) and YW (n = 505, aged 20-25 years) after 12-14 months exposure to Determined, Resilient, Empowered, AIDS-free, Mentored, and Safe (multisectoral HIV program), we used classification and regression trees to explore relationships between interventions (safe space/social asset building [SAB] and provision of/linkage to youth-friendly health services [YFHS], education social protection [Educ], economic social protection [Econ]) and HIV-related outcomes (HIV testing, consistent condom use, transactional sex, and sexual violence experience from partners and nonpartners).ResultsOverall, 59.9% completed SAB and 81.5%, 35.4%, and 29.6% received YHFS, Educ, and Econ, respectively. For AG, HIV testing improved (from 73% to 83%) with exposure to all interventions, condom use improved with Econ (from 33% to 46%), transactional sex reduced with SAB + Educ, and sexual violence from partners and nonpartners reduced with Educ and SAB, respectively. For YW, HIV testing increased with Educ (from 77% to 91%), condom use increased with SAB + YFHS (from 36% to 52%), transactional sex reduced with combinations of all interventions, and sexual violence from partners reduced with YFHS and from nonpartners with SAB + Econ.ConclusionsTailored interventions might be more effective than uniform combination intervention packages in reducing AGYW's HIV risk. AG benefitted most from SAB and/or Educ while YFHS, Educ, and/or SAB reduced YW's HIV-related risk. Educational and asset-building interventions could have the greatest impact on AGYW's HIV risk.
| S-EPMC10617659 | biostudies-literature
Project description:The genetic diversity among human immunodeficiency virus (HIV) subtypes as well as the variability of viral sequences found in HIV-infected individuals presents a number of difficult obstacles for the development of universally effective HIV treatment and prevention methods. Here, we present a brief summary of recent developments in the analysis of viral genetics and human genomics to provide insight into future methods for HIV treatment and prevention. Recent studies have mined viral sequences found in newly infected individuals to identify common features of all transmitted viruses that could provide potential targets for HIV vaccine development. Analysis of human immunogenetics has identified specific alleles associated with reduced virus loads in HIV-infected individuals providing valuable information that may influence individual responses to treatment and prevention methods. Increased sensitivity of antiretroviral drug resistance testing has improved the detection of hidden drug resistant virus but also highlighted the potential for drug resistant viruses to reduce the effectiveness of clinical treatment regimens. The rapidly expanding amount of data generated by studies of viral genetics and human immunogenetics will provide valuable information to guide the design of new strategies to improve clinical treatment and enhance HIV vaccine development.
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Project description:Stroke is a heterogeneous syndrome, and determining risk factors and treatment depends on the specific pathogenesis of stroke. Risk factors for stroke can be categorized as modifiable and nonmodifiable. Age, sex, and race/ethnicity are nonmodifiable risk factors for both ischemic and hemorrhagic stroke, while hypertension, smoking, diet, and physical inactivity are among some of the more commonly reported modifiable risk factors. More recently described risk factors and triggers of stroke include inflammatory disorders, infection, pollution, and cardiac atrial disorders independent of atrial fibrillation. Single-gene disorders may cause rare, hereditary disorders for which stroke is a primary manifestation. Recent research also suggests that common and rare genetic polymorphisms can influence risk of more common causes of stroke, due to both other risk factors and specific stroke mechanisms, such as atrial fibrillation. Genetic factors, particularly those with environmental interactions, may be more modifiable than previously recognized. Stroke prevention has generally focused on modifiable risk factors. Lifestyle and behavioral modification, such as dietary changes or smoking cessation, not only reduces stroke risk, but also reduces the risk of other cardiovascular diseases. Other prevention strategies include identifying and treating medical conditions, such as hypertension and diabetes, that increase stroke risk. Recent research into risk factors and genetics of stroke has not only identified those at risk for stroke but also identified ways to target at-risk populations for stroke prevention.
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Project description:PurposeE-cigarettes are the most commonly used tobacco product among youth in the United States. Yet evidence-based prevention programming is limited due to the rapid onset of this threat. Community-based efforts to address vaping largely target youth in school settings. Although parents can play an important role in youth tobacco control efforts, messages about the dangers of vaping, use among adolescents, and strategies for intervening have not reached many Spanish-speaking parents in low-income Latinx communities. Our community-academic team developed e-cigarette prevention programming for use by promotor/as de salud to address this unmet need.MethodsDuring the 1-year project, the team worked closely with a Project Advisory Committee to: review existing evidence-informed materials; conduct focus groups with parents, youth and promotor/as to guide program development; develop a curriculum to prepare promotor/as to educate low-literacy, Spanish-speaking parents about vaping; craft Spanish language resources for promotor/as to use in community education sessions; train 61 promotor/as to deliver the program; and support program delivery to 657 community members.ResultsFocus groups with promotor/as and community members, key-informant interviews, and brief surveys informed program development and assessment. Community member feedback was essential to development of appropriate materials. Promotor/as demonstrated significant pre- to post- training increases in e-cigarette knowledge and confidence in delivering vaping prevention education. Community members demonstrated a mastery of basic e-cigarette concepts and expressed intention to discuss vaping with their children.ConclusionsPromotor/a-led programming for parents represents a promising approach to vaping prevention and control in the Latinx community.
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Project description:ObjectivesTo identify the extent to which the presence of recent stressful events are risk factors for suicide among active-duty soldiers as reported by informants.MethodsNext-of-kin (NOK) and supervisors (SUP) of active duty soldiers (n = 135) who died by suicide and two groups of living controls: propensity-matched (n = 128) and soldiers who reported suicidal ideation in the past year, but did not die (SI) (n = 108) provided data via structured interviews from the Study to Assess Risk and Resilience in Servicemembers (Army STARRS). Multivariate logistic regression analyses were used to create a risk score for suicide.ResultsThe odds of suicide increased significantly for soldiers experiencing relationship problems, military punishment, and perceived failure or humiliation in the month prior to death. Suicide risk models with these risk factors predicted suicide death among those who reported SI in the past year (OR = 5.9, [95% CI = 1.5, 24.0] χ 2 = 6.24, p = 0.0125, AUC, 0.73 (0.7, 0.8) NOK) and (OR = 8.6, [95% CI = 1.4, 51.5] χ 2 = 5.49, p = 0.0191, AUC, 0.78 (0.7, 0.8); SUP) suggesting the combination of these recent stressors may contribute to the transition from ideation to action.ConclusionsOur findings suggest for the first time recent stressors distinguished suicide ideating controls from suicide decedents in the month prior to death as reported by informants. Implications for preventive intervention efforts for clinicians, supervisors and family members in identifying the transition from ideation to action are discussed.
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Project description:Systemic lupus erythematosus is a heterogeneous autoimmune disease marked by the presence of pathogenic autoantibodies, immune dysregulation, and chronic inflammation that may lead to increased morbidity and early mortality from end-organ damage. More than half of all systemic lupus erythematosus patients will develop lupus nephritis. Genetic-association studies have identified more than 50 polymorphisms that contribute to lupus nephritis pathogenesis, including genetic variants associated with altered programmed cell death and defective immune clearance of programmed cell death debris. These variants may support the generation of autoantibody-containing immune complexes that contribute to lupus nephritis. Genetic variants associated with lupus nephritis also affect the initial phase of innate immunity and the amplifying, adaptive phase of the immune response. Finally, genetic variants associated with the kidney-specific effector response may influence end-organ damage and the progression to end-stage renal disease and death. This review discusses genetic insights of key pathogenic processes and pathways that may lead to lupus nephritis, as well as the clinical implications of these findings as they apply to recent advances in biologic therapies.
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