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Mitochondrial proteins contribute to the pathogenesis of myasthenia gravis.

Myasthenia gravis (MG) is an autoimmune disorder mediated by B-cells, characterized by muscle weakness and fatigue. Mitochondria, essential for energy production and muscle function, have been implicated in MG. Despite their importance, the exact relationship between mitochondrial proteins (MPs) and MG remains unclear. This study utilized two-sample Mendelian Randomization (TSMR) to investigate potential causal associations between MPs and MG. Data from the largest available genome-wide associated study (GWAS), comprising 1873 acetylcholine receptor (AchR) antibody-positive MG patients (1278 l

Causal Relationship Between Gluten-Free Diet and Autoimmune-Related Disease Risk: A Comprehensive Mendelian Randomization Study.

While the gluten-free diet (GFD) is primarily used to treat celiac disease (CD), recent research suggests it may also offer benefits for autoimmune-related diseases (ARDs), though findings remain inconsistent. This study aimed to investigate the potential protective effect of a GFD against ARDs by Mendelian Randomization (MR) analysis. Utilizing data from over 500,000 samples from the UK Biobank and other publicly available genome-wide association studies (GWAS), MR analysis revealed a significant negative causal relationship between GFD and the risk of developing rheumatoid arthritis (RA) (OR

[Causal relationship between autoimmune diseases and aplastic anemia: A Mendelian randomization study].

OBJECTIVES: To investigate the causal associations between autoimmune diseases and aplastic anemia (AA) using Mendelian randomization analysis. METHODS: Publicly available genome-wide association study (GWAS) data were utilized to obtain single nucleotide polymorphisms (SNPs) associated with autoimmune diseases and AA for analysis. The inverse variance weighted (IVW) method was employed as the primary analytical approach, with MR Egger, Weighted Mode, Weighted Median, and Simple Mode methods serving as complementary analyses. Heterogeneity and pleiotropy analyses were conducted using designat…

Thyroid disorders as potential causal factors for preeclampsia: A two-sample bidirectional mendelian randomization study.

BACKGROUND: Although clinical observational studies have reported a connection between preeclampsia (PE) and thyroid disease, the underlying causality remains unclear. The study aims to assess the potential causality between PE and thyroid disease. METHOD: A two-sample bidirectional Mendelian randomization (MR) study was conducted using the summary statistics from the genome-wide association studies on PE (128 668 individuals), thyroid cancer (407 746 individuals), hypothyroidism (410 141 individuals), hyperthyroidism (460 499 individuals), Graves' disease (458 620 individuals), and Hashimoto

Genetics of SSRI antidepressant use and relationship to psychiatric and medical traits.

Antidepressants are among the most-prescribed drugs worldwide, and selective serotonin reuptake inhibitors (SSRIs) are among the most prescribed antidepressants, most commonly used for major depression. We sought to increase our understanding of the biological relationships between SSRI use and a range of psychiatric traits by conducting a genome-wide association study (GWAS) in two large datasets, the UK Biobank (UKB) and the US Million Veteran Program (MVP). GWAS was conducted across 22 autosomes and the X chromosome in 777,952 individuals of European ancestry (191,800 SSRI users, 586,152 co…

Causal Relationship Between Cataracts and Gastrointestinal Diseases: A Two-Sample Mendelian Randomization Study.

PURPOSE: Cataracts, a leading cause of blindness, have been linked to systemic conditions. Previous studies showing associations between cataracts and gastrointestinal diseases have not determined causal relationships. We aimed to investigate the causal relationship between cataracts and 23 gastrointestinal diseases through Mendelian randomization (MR). METHODS: We obtained genome-wide association study (GWAS) datasets for 23 gastrointestinal diseases and cataracts in European populations from the IEU OpenGWAS project. Multivariable MR was performed to account for lipid-related confounders. A…

Causal effect of body mass index on herpes zoster and postherpetic neuralgia: A Mendelian randomization study.

Although observational studies have reported the relationship between body mass index (BMI), herpes zoster (HZ), and postherpetic neuralgia (PHN), the impacts of BMI on the incidence of HZ and PHN are still controversial. Our study aimed to explore the causal effect of BMI on HZ and PHN by a 2-sample Mendelian randomization (MR) approach. Genome-wide association studies data on BMI, HZ, and PHN were derived from publicly available genetic summary datasets. A total of 28 phenotypic single-nucleotide polymorphisms were selected as instrumental variables for BMI. Inverse-variance weighted (IVW) m

Mendelian randomization unveils genetic causal relationships between viral infections and systemic sclerosis.

This study uses Mendelian randomization (MR) to investigate the potential causal relationships between viral infections, including Epstein-Barr virus (EBV), human immunodeficiency virus (HIV), SARS-CoV-2, cytomegalovirus (CMV), human herpes virus 6 (HHV-6), varicella-zoster virus (VZV), herpes simplex virus (HSV), influenza A virus, and hepatitis B virus, and the risk of systemic sclerosis (SSc). Summary-level data on viral exposures and SSc outcomes were obtained from public genome-wide association studies (GWAS) databases. Causality was assessed using the inverse-variance weighted (IVW), MR-

Viral infections of the central nervous system increase the risk of knee osteoarthritis: a two-sample mendelian randomization study.

OBJECTIVE: Osteoarthritis (OA) represents a condition under the influence of central nervous system (CNS) regulatory mechanisms. This investigation aims to examine the causal association between viral infections of the central nervous system (VICNS) and inflammatory diseases of the central nervous system (IDCNS) and knee osteoarthritis (KOA) at the genetic level. METHODS: In this investigation, VICNS and IDCNS were considered as primary exposure variables, while KOA served as the primary outcome. Employing a two-sample mendelian randomization (MR) approach, we conducted an analysis utilizing

Dissecting the genetic relationship between severe mental disorders and autoimmune diseases.

Severe mental disorders have been linked to immune system dysfunction. While a genetic association between mental disorders and autoimmune diseases has been suggested, their genetic relationship remains incompletely understood. Utilizing a complementary set of statistical analyses, we conducted a comprehensive investigation of the genetic architecture between severe mental disorders (major depression (MD), bipolar disorder (BD), and schizophrenia (SCZ)) and seven autoimmune diseases (autoimmune thyroiditis, celiac disease, inflammatory bowel disease (IBD), multiple sclerosis, psoriasis, rheuma

Роль витаминов сыворотки в сдерживании воздействия нейродегенеративных заболеваний на подкорректный объем мозга.

КОЛИЧЕСТВО: Нейродегенеративные заболевания (ND) приводят к постепенной потере нейронных клеток и к атрофии субкортических структур головного мозга, но причинно-следственные промежуточные данные не известны. Для проверки причинно-следственного воздействия на подкорректную атрофию основных ND (болезнь Альцгеймера (АБ), болезнь Паркинсона, множественный склероз и амиотропический боковой склероз) и того, играет ли уровень витамина сыворотки посредническую роль в этом процессе.МЕТОДЫ: С использованием обобщенных данных широкомасштабного исследования, проведенного в рамках ассоциации по геному (GWA

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BACKGROUND: Neurodegenerative diseases (NDs) lead to a progressive loss of neuronal cells and link to atrophy of subcortical brain structure … and whether serum vitamin level play a mediating role in this process. METHODS: Using large-scale genome-wide association study (GWAS) summary data, we performed two-sample Mendelian randomization (MR) to assess the causal effect of NDs on the volume of seven subcortical structures, and then adopted two-step multivariable MR approach to quantify the proportion of the effect …

Quantitative trait locus mapping in placenta: A comparative study of chorionic villus and birth placenta.

The placenta, a pivotal player in the prenatal environment, holds crucial insights into early developmental pathways and future health outco … phenome-wide-association study (PheWAS) on the associated SNPs, we observed numerous overlaps with genome-wide association study (GWAS) hits (spanning 57 distinct traits and 23 SNPs), with notable enrichments for immunological, skeletal, and respiratory traits. The QTL-SNP rs1737028 (chr6:29737993) presented with the highest number of GWAS hits. This SNP was related to HLA-G …

Revealing the association between East Asian oral microbiome and colorectal cancer through Mendelian randomization and multi-omics analysis.

BACKGROUND: Colorectal cancer (CRC) poses a global health threat, with the oral microbiome increasingly implicated in its pathogenesis. This study leverages Mendelian Randomization (MR) to explore causal links between oral microbiota and CRC using data from the China National GeneBank and Biobank Japan. By integrating multi-omics approaches, we aim to uncover mechanisms by which the microbiome influences cellular metabolism and cancer development. METHODS: We analyzed microbiome profiles from 2017 tongue and 1915 saliva samples, and GWAS data for 6692 CRC cases and 27178 controls. Significant

Temporal changes in brain morphology related to inflammation and schizophrenia: an omnigenic Mendelian randomization study.

BACKGROUND: Over the past several decades, more research focuses have been made on the inflammation/immune hypothesis of schizophrenia. Building upon synaptic plasticity hypothesis, inflammation may contribute the underlying pathophysiology of schizophrenia. Yet, pinpointing the specific inflammatory agents responsible for schizophrenia remains a complex challenge, mainly due to medication and metabolic status. Multiple lines of evidence point to a wide-spread genetic association across genome underlying the phenotypic variations of schizophrenia. METHOD: We collected the latest genome-wide a

Causal relationship between thyroid dysfunction and ovarian cancer: a two-sample Mendelian randomization study.

PURPOSE: Observational studies and clinical validation have suggested a link between thyroid dysfunction and an elevated ovarian cancer (OC) risk. However, whether this association indicates a cause-and-effect relationship remains uncertain. We aimed to investigate the plausible causal impact of thyroid dysfunction on OC through a Mendelian randomization (MR) study. METHODS: Genome-wide association study (GWAS) data for thyrotropin (TSH), free thyroxine (FT4), hypothyroidism, and hyperthyroidism were obtained as exposures and those for OC (N = 199,741) were selected as outcomes. Inverse varia…

Whole exome sequencing analysis identifies genes for alcohol consumption.

Alcohol consumption is a heritable behavior seriously endangers human health. However, genetic studies on alcohol consumption primarily focuses on common variants, while insights from rare coding variants are lacking. Here we leverage whole exome sequencing data across 304,119 white British individuals from UK Biobank to identify protein-coding variants associated with alcohol consumption. Twenty-five variants are associated with alcohol consumption through single variant analysis and thirteen genes through gene-based analysis, ten of which have not been reported previously. Notably, the two u

Biological aging mediates the association between periodontitis and cardiovascular disease: results from a national population study and Mendelian randomization analysis.

BACKGROUND: The relationship between periodontitis and cardiovascular disease (CVD) has been extensively studied, but the role of biological … role of biological aging. Subsequently, Mendelian randomization (MR) analyses were performed using genome-wide association study databases to explore potential causal relationships between periodontitis, CVD, and biological aging. RESULTS: Periodontitis was associated with a higher risk of CVD. Participants with periodontitis were found to have increased levels of biological …

Crohn disease but not ulcerative colitis increases the risk of acute pancreatitis: A 2-sample Mendelian randomization study.

Accumulating evidence has indicated an increased risk of acute pancreatitis in individuals with inflammatory bowel disease (IBD); however, the establishment of a clear and direct causal connection between IBD and acute pancreatitis remains uncertain. Utilizing genetic data from publicly accessible genome-wide association studies (GWAS), we conducted a 2-sample MR analysis to identify the associations between IBD, ulcerative colitis (UC), Crohn disease (CD), and acute pancreatitis risk. Rigorous quality control steps ensured the selection of eligible single nucleotide polymorphisms (SNPs) with

The causality between use of glucocorticoids and risk of pancreatitis: a Mendelian randomization study.

BACKGROUND AND AIM: To date, the association between glucocorticoid use and the risk of pancreatitis remains controversial. The aim of this study was the investigation of this possible relationship. METHODS: We carried out a two-sample Mendelian randomization (MR) analysis using GWAS data from European ancestry, East Asian descendants and the FinnGen Biobank Consortium to evaluate this potential causal relationship. Genetic variants associated with glucocorticoid use were selected based on genome-wide significance (p < 5×10-8). RESULTS: Our MR analysis of European ancestry data revealed no s

Exploring Relationships Between Circulating Interleukins and Pulp and Periapical Diseases: A Bidirectional Mendelian Randomization Study.

INTRODUCTION: The aim of this study was to comprehensively evaluate the links of genetic predisposition among 13 common circulating interleukins (ILs) and endodontic diseases by using a 2-sample Mendelian randomization method. METHODS: Single nucleotide polymorphisms were chosen as instrumental variables from summary data of genome-wide association studies (GWASs), using the inverse-variance-weighted method as the primary analysis. In addition, a variety of sensitivity analyses was conducted to evaluate the resilience of the primary outcomes and identify any inherent pleiotropic effects. RES