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Multi-Omics Analysis Identifies Genetic Mechanisms and Therapeutic Targets for Acne Vulgaris.

Acne vulgaris is a chronic inflammatory disorder with complex pathophysiology. However, challenges such as antibiotic resistance, side effects, and recurrence highlight the need for precision therapies. This study employed a multi-omics approach, integrating summary-data-based Mendelian randomization, colocalization, two-sample Mendelian randomization, transcriptome-wide association studies, proteome-wide association studies, and functional analyses to identify acne-associated genes and proteins. We analyzed acne GWAS data (n_cases = 34,422; n_controls = 364,991); expression quantitative trait

Associations and mediators between vitiligo and cardiovascular diseases: a Mendelian randomization study.

Previous studies yielded conflicting results on the associations between vitiligo and cardiovascular diseases (CVD), and its underlying mechanisms remain unclear. This MR study aims to elucidate the underlying causal association between vitiligo and the risk of CVD, as well as the potential mediator. Using summary statistics from genome-wide association study (GWAS), we conducted a bidirectional two-sample Mendelian randomization (MR) analysis and mediation analysis to investigate the causal association between vitiligo and 13 CVD outcomes and potential mediators. The IVW method was the main M…

Mendelian randomization reveals a causal link between age at menarche and reduced risk of periodontitis.

The aim of this study was to assess the causal association between age at menarche (AAM) and periodontitis by use of a 2-sample 2-way Mendelian randomization (MR) study. A 2-sample bidirectional MR analysis was performed based on genome-wide association study data from European populations of AAM and chronic periodontitis, using single nucleotide polymorphisms as instrumental variables. Inverse-variance weighting, weighted median, weighted multinomial, and MR-Egger were used to assess the bidirectional causal association between AAM and chronic periodontitis. The inverse-variance weighting met…

Causal relationship between dietary factors and oral mucosal lesions: Two-sample Mendelian randomization analysis.

Previous studies have suggested potential associations between some dietary factors and oral mucosal lesions (OMLs), however, existing research could be biased due to limited sample size and unaccounted confounding factors. This study aimed to explore the causal relationships between 13 common dietary factors and 3 OMLs using 2-sample Mendelian randomization (MR) analysis. Data for the MR analysis were extracted from publicly available genome-wide association study statistics. Thirteen dietary intakes were selected as exposure factors, recurrent aphthous stomatitis (RAS), oral lichen planus (O…

Causal Relationship Between Circulating Inflammatory Cytokines and the Risk of Trigeminal Neuralgia: A Mendelian Randomization Study.

BACKGROUND: Inflammatory regulators play a fundamental role in the development of trigeminal neuralgia (TN). However, the precise mechanisms and causal relationship with the risk of TN remain poorly understood. METHODS: This study aimed to assess the causal relationship between 41 inflammatory cytokines and TN using Mendelian randomization (MR) analysis. A two-sample MR approach was utilized, employing genetic variation data on TN from a large publicly available genome-wide association study (GWAS) comprising 1777 cases of European ancestry and 360,538 controls. Additionally, summary data fro…

Causal relationship between bulimia nervosa and microstructural white matter: evidence from Mendelian randomization.

PURPOSE: Observational studies suggest white matter (WM) microstructural anomalies are linked to bulimia nervosa (BN), but a direct causal relationship remains unestablished. This study aimed to investigate the causal impact of BN on WM microstructure. METHODS: We analyzed genome-wide association study (GWAS) summary data from 2442 individuals to identify genetically predicted BN. Diffusion MRI were obtained from the UK Biobank. After assessing instrumental variable validity, we conducted Mendelian randomization (MR) using inverse variance weighting (IVW) as the primary method, followed by pl…

Mendelian Randomization Studies on Actinic Keratosis.

BACKGROUND/AIM: Actinic keratosis (AK) is a common skin condition associated with cumulative sun exposure and advancing age. As a precursor to squamous cell carcinoma, it is clinically relevant as a target for prevention. While epidemiological studies have suggested various risk factors, causal inference is often limited by confounding. Mendelian randomization (MR), which uses genetic variants as proxies for exposures, can help address this. This review aimed to provide an overview of published MR studies that have examined AK either as an exposure or an outcome. MATERIALS AND METHODS: We con

Causal relationship between educational attainment and Hashimoto's thyroiditis: a two-sample mendelian randomization study.

INTRODUCTION: The etiology of Hashimoto's thyroiditis (HT) is diverse. The correlation between educational attainment (EA) and health is also a research hotspot. This study explores the relationship between EA and HT from a genetic perspective. MATERIAL AND METHODS: Summary data on EA and HT were sourced from the MRC Integrative Epidemiology Unit (IEU) Open Genome-Wide Association Studies (GWAS) database. Utilizing single nucleotide polymorphisms (SNPs) that are strongly associated with EA as instrumental variables, we estimated the causal relationship between EA and HT through two-sample men

Dissecting causal relationships between inflammatory factors, plasma metabolites, and nonalcoholic fatty liver disease: a mediating Mendelian randomization study.

BACKGROUND: Nonalcoholic fatty liver disease (NAFLD), which affects approximately 25% of the global adult population, is a metabolic-associated hepatic disorder characterized by the interplay between inflammation and metabolism. Although evidence linking inflammatory factors and plasma metabolites to NAFLD progression, their causal relationships and mediating mechanisms remain unclear. METHODS: This study employed a bidirectional Mendelian randomization (MR) approach combined with mediation analysis to investigate the causal relationships between inflammatory factors, plasma metabolites, and

Comprehensive mendelian randomization analysis of human plasma proteome to identify potential drug targets for essential tremor.

We performed a systematic causal analysis of the plasma proteome, to discover potential protein markers and therapeutic targets for essential tremor (ET). Protein quantitative trait loci (pQTLs) of 4853 plasma proteins were derived from 7 published genome-wide association studies of the plasma proteome. A 2-sample Mendelian randomization (MR) study was conducted to assess the potential causal relationships between 4853 plasma proteins and ET. Summary-data-based MR and Bayesian colocalization analyses were performed to confirm the causal roles of the candidate proteins. Phenome-wide-MR (Phe-MR)

Bidirectional Mendelian randomization analysis of the causal relationship between inflammatory bowel disease and Hashimoto thyroiditis.

This study aimed to explore the bidirectional causal relationship between inflammatory bowel disease (IBD) and Hashimoto thyroiditis (HT) using Mendelian randomization (MR) analysis. While both conditions are characterized by persistent inflammation and immune dysregulation, the direction of causality remains unclear. We performed a 2-sample bidirectional MR analysis using summary statistics from genome-wide association studies for IBD and HT. Genetic variants strongly associated with IBD and HT were selected as instrumental variables for forward and reverse MR analyses, respectively. Various

Unraveling the causality between carpal tunnel syndrome and trigger finger through genetic instrumental variables.

OBJECTIVE: Carpal tunnel syndrome (CTS) and trigger finger (TF) are the two most common non-traumatic connective tissue disorders of the hands. These conditions often manifest concurrently in certain patients; however, the mechanisms underlying this phenotypic association remain inadequately understood. In this study, we aimed to systematically investigate the causal relationship between CTS and TF using a large sample size and advanced methods. METHOD: In this study, comprehensive summary-level data on CTS and TF from genome-wide association studies (GWAS) were collected. The causal relation

Exploration of the effects of 66 mitochondria-associated proteins on different cardiomyopathies: A bidirectional 2-sample mendelian randomization study.

The aim of this study was to apply bidirectional Mendelian randomization (MR) to assess and investigate the causal associations between mitochondrial DNA copy number (mtDNA-CN), mitochondrial-associated proteins and cardiomyopathy. The mtDNA-CN and MAP from the IEU Open GWAS database were screened for strong associations with 4 different cardiomyopathy-associated single nucleotide polymorphisms (SNPs) in the IEU Open GWAS and Finnish databases, respectively, and causal associations were investigated using the inverse variance weighting method, the MR-Egger regression method, the weighted media

Comprehensive genetic analysis based on multi - omics reveals novel therapeutic targets for mitral valve prolapse and drug molecular dynamics simulation.

OBJECTIVE: Mitral valve prolapse (MVP), the most prevalent primary valvular disease, serves as a direct risk factor for multiple cardiovascular disorders and exhibits a high prevalence in the general population. As no specific pharmacological therapies currently exist for MVP, the identification of precise therapeutic targets is imperative. METHOD: We conducted comprehensive causal genetic inference by integrating genetic data from expression quantitative trait loci (eQTL) and genome-wide association studies (GWAS). Analytical approaches included Mendelian Randomization (MR), colocalization a

Phenome-wide association study and functional annotation of hemoglobin A1c-associated variants in African populations.

BACKGROUND: Glycated hemoglobin (HbA1c) measures the average blood sugar level over the past three months. As a vital biomarker of blood glucose levels, it is used to diagnose Type-2 diabetes mellitus (T2D) and monitor glycemic control. A heritability estimate of 47% to 59% suggests that about half of the variation in HbA1c levels can be attributed to genetic factors. Despite African populations being the most genetically diverse and unique for fine-mapping, there is a paucity of data on the genetic drivers of HbA1c in African individuals. In this study, we performed functional annotation and

Exploring the potential causal association between genetic factors for multiple sclerosis and genetic factors for kidney disease: A multivariate Mendelian randomization study.

The potential causal relationship between genetic susceptibility to multiple sclerosis (MS) and the risk of kidney diseases remains unclear. Understanding this association may provide new insights into comorbidity mechanisms and improve clinical risk assessment. A two-sample Mendelian randomization (MR) analysis was conducted using single nucleotide polymorphisms significantly associated with MS as instrumental variables. Genetic data were derived from genome-wide association studies comprising 115,803 individuals for MS and up to 218,792 individuals for renal diseases. Outcomes included nephr

Менделийский анализ случайности не подтверждает причинно-следственного воздействия липопротеинов (А) и иммунопосредованных подстрекательских заболеваний.

Результаты наблюдений свидетельствуют о наличии связи между липопротеином(a) (Lp(a)) и эпидемическими эпидемическими заболеваниями (IMID). Для изучения причинно-следственной связи между липопротеином (a) [Lp(a)] и иммунизированными подстрекательскими заболеваниями (IMID) в этом исследовании использовались менделианские методы рандомизации (MR) и многовариантные MR (MVMR). Мы провели двухнаправленный анализ менделизации с использованием двух выборок на основе общих исследований генома (GWAS) сводные статистические данные по Lp(a) и девяти IMID, в частности по заболеваниям селияка (CeD), болезни

Совпадение в аннотации оригинала
Observational studies have reported an association between lipoprotein(a) (Lp(a)) and immune-mediated inflammatory diseases (IMIDs). This st … diseases (IMIDs). We performed a bidirectional two-sample mendelian randomization analyses based on genome-wide association study (GWAS) summary statistics of Lp(a) and nine IMIDs, specifically celiac disease (CeD), Crohn's disease (CD), ulcerative colitis (UC), inflammatory bowel disease (IBD), multiple sclerosis (MS), psoriasis (Pso), rheumatoid arthritis (RA), systemic lupu …

Генетическая связь между иммунизированными подстрекательскими заболеваниями и периферийными заболеваниями артерии: исследование менделии случайности.

Ряд исследований, проведенных в ходе наблюдений, показали, что иммунопрофилактические заболевания (ИМИД) связаны с повышенным риском заболевания периферийных артерий (ПАД). Однако причинно-следственная связь еще не определена. В подтверждение предыдущих исследований мы провели менделийский анализ случайности (MR) с целью уточнения связей различных IMID с PAD. two- был проведен анализ МВ для изучения возможной причинно-следственной связи между eight Обычные IMID (включая ревматоидный артрит (RA), болезнь Крона (CD), язвительный колит (UC), системный волшебный эритематос (SLE), анквилизирующий с

Совпадение в аннотации оригинала
Several observational studies have revealed that immune-mediated inflammatory diseases (IMIDs) are associated with an increased risk of peri … ng spondylitis(AS), psoriasis(PSO), multiple sclerosis(MS), and hashimoto thyroiditis(HT)) and PAD. Genome-wide association study (GWAS) was used to identify genetic variants associated with IMIDs and PAD. We employed the inverse variance weighted (IVW) method as the primary method to verify the causal relationship between exposures (IMIDs) and outcomes (PAD). In addition, het …

Является ли DEXI множественным склерозом удобочитаемым геном?

Генетический ландшафт множественного склероза (MS) был тщательно просчитан, что позволило глубже понять молекулярные механизмы расстройства. В ходе первых исследований были выявлены ключевые гены, связанные с иммунной системой, в частности с Т клетками, которые имеют решающее значение для MS-чувствительности. В ходе последующих широкомасштабных исследований, проведенных в рамках всей ассоциации генома (GWAS), было выявлено более 200 генетических вариантов, связанных с MS, что выявило сложную взаимосвязь между риском, связанным с MS, и генами, вовлеченными в различные процессы в рамках адаптивн

Совпадение в полном тексте источника
… Abbreviations The following abbreviations are used in this manuscript: MS Multiple sclerosis SNP Single nucleotide polymorphism eQTL Expression quantitative trait locus GWAS Genome-wide association study LD Linkage disequilibrium CNS Central nervous system DEXI Dexamethasone-induced protein CLEC16A …

Сексуальные патогенные гены, связанные с Хормоном, в многоразовом склерозе: многоомикальное исследование менделии.

Множественный склероз (MS) — хроническое аутоиммунное заболевание со сложными этиологиями, включая генетические факторы. Сексуальные гормоны были замешаны в патогенезе MS, однако основные генетические механизмы остаются неясными. В этом исследовании использовался многомерный подход к произвольной менделизации (MR) для оценки причинно-следственных связей между генами, связанными с сексуальными гормонами, и MS. Мы использовали сводные данные, полученные в ходе исследований по общегеномной ассоциации (GWAS) и основанных на крови количественных loci (mQTLs), выражение QTL (eQTLs) и протеомический