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Association of the sarcopenia index based on the serum creatinine to cystatin C ratio and genetic risk with venous thromboembolism: a population-based cohort study.

BACKGROUND: Venous thromboembolism (VTE) results from the interplay between environmental and genetic factors. The relationship between sarcopenia index (SI) and VTE risk remains unclear. The combined effects of SI and genetic susceptibility on VTE risk have not been fully elucidated. We therefore investigated these associations using data from the UK Biobank. METHODS: Cox proportional hazards models were used to assess the relationship between SI and genetic susceptibility with incident VTE. Restricted cubic spline models were applied to examine the exposure-response relationships. RESULTS:

Joint associations of cardiovascular polygenic risk and a health-related risk profile with incident cardiovascular disease among adults with depression: a UK Biobank study.

BACKGROUND: Adults with depression have higher cardiovascular disease (CVD) risk, but the joint associations of inherited CVD susceptibility and health-related risk profiles remain uncertain. We examined incident CVD according to CVD polygenic risk score (PRS) and a health-related risk profile among adults with depression. METHODS: We identified 3,446 participants with depression. For participants with ICD-10 depression recorded before recruitment, the index was the recruitment assessment date. For those identified by a Patient Health Questionnaire-9 (PHQ-9) score ≥ 10, the index was the ques

Association of Polygenic Risk Scores for Depression, Anxiety, and Neuroticism with Lower Urinary Tract Symptoms Among Women.

BACKGROUND AND OBJECTIVE: Observational studies have found that depression, anxiety, and neuroticism are prospectively associated with lower urinary tract symptoms (LUTS) among women, but are limited by confounding and measurement errors. We examined whether genetic liability for these psychiatric traits is associated with LUTS among women. METHODS: Participants were from the mothers cohort of the Avon Longitudinal Study of Parents and Children (ALSPAC). Polygenic risk scores (PRSs) for depression, anxiety, and neuroticism were calculated using summary data from genome-wide association studie

Polygenic risk score and clinical factors predict incident idiopathic pulmonary arterial hypertension.

BACKGROUND: This study aimed to develop a comprehensive prediction model integrating polygenic risk scores (PRS) and clinical factors to identify individuals at high risk for incident idiopathic pulmonary arterial hypertension (IPAH). METHODS: A PRS was constructed using summary statistics derived from the largest genome-wide association study for pulmonary arterial hypertension in Europeans and validated in the UK Biobank (732 cases, 458,258 controls). After excluding individuals with IPAH at baseline, 316,073 participants (316 incident IPAH patients) were split into training and testing set

Performance of polygenic scores for predicting phobic anxiety.

CONTEXT: Anxiety disorders are common, with a lifetime prevalence of 20% in the U.S., and are responsible for substantial burdens of disability, missed work days and health care utilization. To date, no causal genetic variants have been identified for anxiety, anxiety disorders, or related traits. OBJECTIVE: To investigate whether a phobic anxiety symptom score was associated with 3 alternative polygenic risk scores, derived from external genome-wide association studies of anxiety, an internally estimated agnostic polygenic score, or previously identified candidate genes. DESIGN: Longitudina

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and multi-trait analyses in HCM (1,733 cases), DCM (5,521 cases) and nine left ventricular (LV) traits (19,260 UK Biobank participants with structurally normal hearts). We identified 16 loci associated with HCM, 13 with DCM and 23 with LV traits. We show strong genetic correlations between LV traits and cardiomyopathies, with opposing effects in HCM and DCM. Two-sample Mendelia

Omega-3 polygenic score protects against altered eating behavior in intrauterine growth-restricted children.

BACKGROUND: Alterations in eating behavior are common in infants with intrauterine growth restriction (IUGR); omega-3 polyunsaturated fatty acids (PUFA) could provide protection. We hypothesized that those born IUGR with a genetic background associated with increased production of omega-3-PUFA will have more adaptive eating behaviors during childhood. METHODS: IUGR/non-IUGR classified infants from MAVAN and GUSTO cohorts were included at the age of 4 and 5 years, respectively. Their parents reported child's eating behaviors using the child eating behavior questionnaire-CEBQ. Based on the GWAS

Late Onset Alzheimer's Disease Risk Variants in Cognitive Decline: The PATH Through Life Study.

Recent genome wide association studies have identified a number of single nucleotide polymorphisms associated with late onset Alzheimer's disease (LOAD). We examined the associations of 24 LOAD risk loci, individually and collectively as a genetic risk score, with cognitive function. We used data from 1,626 non-demented older Australians of European ancestry who were examined up to four times over 12 years on tests assessing episodic memory, working memory, vocabulary, and information processing speed. Linear mixed models were generated to examine associations between genetic factors and cogni…

Rheumatoid arthritis and osteoporosis: shared genetic effect, pleiotropy and causality.

Rheumatoid arthritis (RA) is associated with increased localized and generalized bone loss, but the complex genetic mechanism between them i … netic functions of which reveal the possible mechanism underlying RA and osteoporosis. In European, genetic risk score (GRS) and comprehensive Mendelian randomization (MR) were utilized to evaluate the causal association between RA and osteoporosis in European and Asian. The increase in GRS of RA could lead to a decrease of eBMD (beta = -0.008, P = 3.77E-6) and a hi …

Machine Learning-Based Prediction of Gout Using Polygenic Risk Scores and Clinical Variables: A Korean Cohort Study.

INTRODUCTION: The prevalence of gout, a chronic metabolic disease, has recently increased. Polygenic risk scores (PRSs) represent a useful tool for predicting patient outcomes of this condition. However, the clinical utility of PRS in disease prediction remains controversial. METHODS: Using data from the Korean Genome and Epidemiology Study, machine learning (ML) models were developed to predict gout based on PRS and clinical variables such as uric acid, lifestyle habits, and metabolic syndrome (MetS) profiles. Five supervised learning algorithms were applied: logistic regression (a tradition

Письменные исследования по показателям полигенного риска в общих нейродегенеративных заболеваниях - Протокол обзора.

ЦЕЛЬ: Цель настоящего протокола заключается в четком описании процесса аналитического обзора, который мы планируем провести по теме оценки полигенного риска (ПСОК) общих нейродегенеративных заболеваний. Мы представим цель обзора, стратегию поиска доказательств, процедуру извлечения и анализа данных и порядок представления результатов. МЕТОДЫ: Критерии включения в запланированное аналитическое исследование будут сосредоточены на источниках доказательств, которые включают в себя ССН, применяемые к нейрогенеративным заболеваниям, таким, как Множественный склероз, болезнь Паркинсона, болезнь Альцг

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… The search used the initial terms “genetic risk score,” “polygenic risk,” “neurodegenerative disease,” “neurodegenerative disorder,” and “review.” No current or ongoing systematic reviews or scoping reviews on this topic were found. … Risk Score”[Mesh] OR “Genetic Risk Score*”[tiab] OR “Polygenic Risk Score*”[tiab] OR “Genetic Predisposition to Disease*”[tiab] OR “Genetic Predisposition*”[tiab] OR “Genetic Susceptibility”[tiab] OR “Genetic Susceptibilities”[tiab]) Search String for MEDLINE via PubMed Sources of Information The …

[Application of polygenic risk score-based comprehensive breast cancer risk assessment in preimplantation embryo selection for a BRCA1 mutation carrier].

A patient, whose family carried a BRCA1: c.5154G>A pathogenic variant, had experienced infertility for three years and sought assisted reproductive technology. We constructed a breast cancer polygenic risk score (PRS)-313 model by integrating genetic data from breast cancer patients and controls in the UK Biobank with Asian population-specific single nucleotide polymorphism weights. Following controlled ovarian stimulation, embryo culture, and biopsy, the embryos were tested for the BRCA1 pathogenic variant. By integrating the breast cancer PRS‑313 score and family history of breast cancer, a

Angiographic Burden of Coronary Atherosclerosis Partially Mediates the Association Between ASCVD Risk Factors and Outcomes.

BACKGROUND: Coronary artery disease (CAD) is a major contributor to cardiovascular morbidity (including myocardial infarction and heart failure) and mortality. Although the burden of CAD (number and degree of coronary artery stenosis) has been observationally linked to these outcomes, the causal contribution and independence from traditional cardiovascular risk factors have been poorly defined. METHODS: We developed a polygenic risk score for angiographic CAD burden using data from the VA Million Veteran Program (n=41 507) and validated this score using data from the Penn Medicine Biobank (n=

Utility of a Systolic Blood Pressure Polygenic Risk Score With Chlorthalidone Response.

IMPORTANCE: The clinical utility of polygenic risk scores (PRS) for blood pressure (BP) response to antihypertensive treatment (AHT) has not been elucidated. OBJECTIVE: To investigate the ability of a systolic BP (SBP) PRS to predict AHT response and apparent treatment-resistant hypertension (aTRH). DESIGN, SETTING, AND PARTICIPANTS: The Genetics of Hypertension Associated Treatments (GenHAT) study was an ancillary pharmacogenomic study to the Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT). ALLHAT, which enrolled participants aged 55 years or older with

Polygenic Risk Score Associates With Atherosclerotic Plaque Characteristics at Autopsy.

BACKGROUND: Polygenic risk scores (PRSs) for coronary artery disease (CAD) potentially improve cardiovascular risk prediction. However, their relationship with histopathologic features of CAD has never been examined systematically. METHODS: From 4327 subjects referred to CVPath by the State of Maryland Office Chief Medical Examiner for sudden death between 1994 and 2015, 2455 cases were randomly selected for genotyping. We generated PRS from 291 known CAD risk loci. Detailed histopathologic examination of the coronary arteries was performed in all subjects. The primary study outcome measureme

Does Combining the STarT Back Tool With a Polygenic Risk Score for Chronic Low Back Pain Improve Prediction of Work Disability Over 2 Years?

INTRODUCTION: Chronic back pain (CBP) is a leading cause of work disability worldwide, yet identifying individuals at risk remains difficult due to its multifactorial aetiology. This population-based cohort study investigated whether integrating a polygenic risk score (PRS) for CBP with the STarT Back Tool (SBT)-a widely used psychosocial screening instrument-could improve the prediction of work disability, measured as disability leave days over a 2-year follow-up. METHODS: We analysed data from 1938 participants in the Northern Finland Birth Cohort 1966 with complete genotyping, SBT response

Serum CD44 levels in early pregnancy and its genetic variants for increased risk of gestational diabetes mellitus in Chinese pregnant women.

This study aimed to explore associations of serum cluster of differentiation 44 (CD44) levels and its genetic variants in early pregnancy wi … n early pregnancy was associated with GDM risk in a U-shaped manner. High serum CD44 levels and its genetic risk score in early pregnancy were associated with markedly increased risk of GDM after adjustment for traditional confounders (OR: 1.95, 95%CI: 1.12-3.40 & 1.95, 1.05-3.61). Furthermore, after adjustment for serum CD44 levels, the OR of CD44 genetic risk scor …

Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk.

BACKGROUND: Recent discoveries of risk alleles have made it possible to define genetic risk profiles for patients with rheumatoid arthritis … 23 controls from the Swedish Epidemiologic Investigation of Rheumatoid Arthritis (EIRA). A weighted genetic risk score (GRS) was created, in which the weight for each risk allele is the log of the published odds ratio (OR). Logistic regression was used to study associations with incident RA. Area under the curve (AUC) statistics were compared from a clinical-only mo …

Polygenic risk score prediction of multiple sclerosis in individuals of South Asian ancestry.

Polygenic risk scores aggregate an individual's burden of risk alleles to estimate the overall genetic risk for a specific trait or disease. Polygenic risk scores derived from genome-wide association studies of European populations perform poorly for other ancestral groups. Given the potential for future clinical utility, underperformance of polygenic risk scores in South Asian populations has the potential to reinforce health inequalities. To determine whether European-derived polygenic risk scores underperform at multiple sclerosis prediction in a South Asian-ancestry population compared wit

Modifiable Lifestyle Factors, Genetic Risk, and Incident Peripheral Artery Disease Among Individuals With Type 2 Diabetes: A Prospective Study.

OBJECTIVE: To prospectively evaluate the association between modifiable lifestyle factors and peripheral artery disease (PAD) among individuals with type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS: We included 14,543 individuals with T2D from the UK Biobank. We defined a weighted healthy lifestyle score using nonsmoking, regular physical activity, high-quality diet, moderate alcohol consumption, optimal waist-to-hip ratio, and adequate sleep duration, and categorized into unfavorable, intermediate, and favorable lifestyles. We created a genetic risk score (GRS) using 19 single nucleotide p…