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Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis.

A pathogenic GGC repeat expansion in zinc finger homeobox 3 (ZFHX3), encoding a pure polyglycine (polyG) tract, causes spinocerebellar ataxia type 4 (SCA4). Intermediate expansions of other SCA loci have been implicated in amyotrophic lateral sclerosis (ALS), while repeat motif composition is recognised to influence pathogenicity in neurodegenerative diseases. Given the genetic pleiotropy between ALS and SCA, we evaluated whether ZFHX3 GGC expansions are associated with ALS and characterised repeat motif composition. ZFHX3 GGC repeat sizes were genotyped using ExpansionHunter in short-read who…

Causal association between chloride intracellular channel protein 5 and Hashimoto thyroiditis: A Mendelian randomization study.

This objective was to conduct Mendelian randomization (MR) analysis in order to investigate the potential causal relationship between chloride intracellular channel protein 5 (CLIC5) and Hashimoto thyroiditis (HT). Two separate MR analyses were performed, both using CLIC5 as the exposure variable and HT as the outcome. The first analysis utilized exposure data from genome-wide association study (GWAS) ID: prot-a-584 and outcome data from GWAS ID: ebi-a-GCST90018635. The second analysis used the same exposure data but sourced the outcome from ebi-a-GCST90018855. Four MR methods were applied in

A Mendelian randomization study of the associations between depression, anxiety and clinical conditions including thyroid nodules, flatulence, and irregular menstruation.

OBJECTIVE: Given the high prevalence of psychological and physical conditions as well as the limited understanding of the potential causal links, we aim to explore the associations between psychological problems (depression and anxiety) and physical health issues (thyroid nodules, flatulence, menstrual disorders). METHODS: Genetic data on depression and anxiety were sourced from the Psychiatric Genomics Consortium and the FinnGen database, respectively. Meanwhile, datasets of the Epidemiological Network were employed to investigate thyroid nodules, flatulence, and menstrual irregularities. Th

Causal Association Between Circulating Inflammatory Proteins and Autoimmune Liver Disease: a Bidirectional Two-Sample Mendelian Randomization Study.

INTRODUCTION: To investigate whether there is a direct causal relationship between circulating inflammatory proteins and autoimmune liver disease (AILD). MATERIALS AND METHODS: We collected genetic data for various AILD from the Genome Wide Association Studies (GWAS) dataset. The latest research provides GWAS data for 91 proteins associated with inflammation. Perform bidirectional two sample Mendelian randomization (MR) analysis using inverse variance weighted (IVW) to determine the causal relationship between inflammatory proteins and AILD, and use Mendelian randomization Egger method (MR Eg

The association between diet and bladder cancer risk: a two-sample mendelian randomization.

PURPOSE: Bladder cancer (BC) is the ninth most common cancer globally, with notable gender and regional differences. Due to the inconclusive impact of diet on BC risk and the inherent biases from observational studies, this research investigates the causal role of dietary patterns (DPs) in BC risk using Two-Sample Mendelian Randomization (TSMR). METHODS: Genetic variants were used as instrumental variables (IVs) to analyze 14 food/beverage items and four DPs. Summary-level exposure and outcome data were derived from UK Biobank GWAS (>500,000 participants). The inverse-variance weighted (IVW)

Mendelian randomization analysis unveils causal relationships between skin microbiota and osteomyelitis.

BACKGROUND: Osteomyelitis results principally from endo-/exogenous bacterial infections, whose incidence that complicating bone injuries reaches approximately 30%, with the risk of disability and teratogenicity. Skin microbiota has been found to be clinically linked to osteomyelitis, but substantial evidence is lacking. METHODS: Mendelian randomization (MR) was applied to unveil the causality between human skin microbiome and osteomyelitis. Genetic data of 1,656 skin microbiota samples were obtained from genome-wide association studies (GWAS), with the outcome of osteomyelitis from UK Biobank

Investigation of the Causal Association Between Treg Cells and Actinic Keratosis Through Two-Sample Mendelian Randomization Analysis.

PURPOSE: Actinic keratosis is a highly prevalent precancerous skin condition and a major risk factor for cutaneous squamous cell carcinoma with a significant risk of malignant transformation. Despite its clinical importance, the causal role of immune factors, especially regulatory T (Treg) cells, in actinic keratosis pathogenesis remains unclear. A two-sample Mendelian Randomization (MR) approach was employed to investigate the potential causal link between distinct characteristics of Treg cells and the likelihood of developing actinic keratosis. PATIENTS AND METHODS: The analysis utilized pu

Plasma tissue factor as a promising marker in multiple sclerosis: Evidence from a two-sample Mendelian randomization study.

BACKGROUND: Multiple sclerosis (MS) is a major demyelinating disorder that affects the central nervous system. A growing body of evidence has revealed the involvement of coagulation pathway in the pathogenesis of MS. However, the causal association between coagulation factors and MS is still unclear. METHOD: A two-sample Mendelian randomization (MR) analysis was conducted. Genetic variants for plasma coagulation factors were identified as instrumental variables. Summary-level statistics for MS were collected from a large-scale genome-wide association study, including 47,429 cases and 68,374 c

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

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… MR-Egger regression analysis and funnel plots were employed to assess the potential bias resulting from genetic pleiotropy. …

Causal role of genetically predicted 731 immune cell phenotypes in chronic lymphatic leukemia: A bidirectional Mendelian randomization study.

INTRODUCTION: The direct causal relationship between these anomalies and chronic lymphatic leukemia (CLL) remains ambiguous. This study sought to investigate the potential causal link between immune cells and CLL. MATERIALS AND METHODS: The summary data for genome-wide association studies utilized in this research were sourced from various publicly accessible databases, including the GWAS and FinnGen databases. By amalgamating these extensive genetic resources, we applied an array of cutting-edge Mendelian randomization (MR) analytical techniques. Specifically, we employed the inverse varianc

Can early gut microbiota screening reduce the incidence of cognitive impairment? A Mendelian randomization study.

Background: Gastrointestinal symptoms are now detected early in the clinical course of many dementia patients, and studies of the microbiome-gut-brain axis have confirmed bidirectional interactions between the gut and the brain. However, the causal relationship between gut microbiota and cognitive impairment has not been fully established. Therefore, this study conducted a bidirectional Mendelian randomization study to elucidate the potential causal relationship of gut microbiota to cognitive impairment. Objective: Using Mendelian randomization to identify gut flora with a genetic causal effec

Assessing the causal relationship between blood metabolites and low back pain: a Mendelian randomization study.

AIM: Low back pain (LBP) is one of the most common health problems worldwide. This study aimed to determine whether blood metabolites were causally linked to the risk of LBP. METHODS: Based on summary-level genome-wide association studies, we designed a Mendelian randomization (MR) study. Instrumental variables were selected for each blood metabolite with the following criteria: genome-wide significance levels of < 5e-8 and independent clumping (r2 < 0.001, distance < 10,000 kb). Inverse-variance weighting (IVW) was used as the primary statistical method. The weighted median (WM) method and M

Serum 25-hydroxyvitamin D levels and dermatomyositis: A 2-sample mendelian randomization study.

BACKGROUND: Previous studies have reported low serum 25-hydroxyvitamin D [25(OH)D] levels in dermatomyositis (DM) patients, but the exact causal relationship between them remains elusive. Our aim is to confirm the causal relationship between 25(OH)D and DM risk through a Mendelian randomization study. METHODS: Retrieve genome-wide association study (GWAS) data on 25(OH)D (n = 441 291) and DM (n cases = 201, n controls = 172 834) from the GWAS database (https://gwas.mrcieu.ac.uk/). Select single-nucleotide polymorphisms (SNPs) strongly correlated with 25(OH)D as instrumental variables (IVs). T

Causal associations between fluid intake patterns and dermatitis risk: a Mendelian randomization study.

BACKGROUND: Dermatitis is one of the most common skin disorders across the world. Atopic dermatitis (AD) and contact dermatitis (CD) are its two primary types. Few studies have focused on the causal relationship between fluid intake and dermatitis. With an Mendelian Randomization (MR), this study investigated the potential causal effects of alcohol, coffee, tea, and water intake on the risk of AD and CD. METHODS: Utilizing genetic variants as instrumental variables (IVs), a two-sample MR analysis was implemented based on data from the UK Biobank and FinnGen r9 consortium. Fluid intake was cat

Association between psychiatric disorders and irritable bowel syndrome: A bidirectional Mendelian randomization study.

OBJECTIVE: Previous studies have suggested that irritable bowel syndrome (IBS) is strongly associated with psychiatric disorders. However, it is unclear whether this association is causal, concomitant, or accidental. Thus, we performed Mendelian randomization (MR) analysis to evaluate the causal effects of several psychiatric disorders on IBS. METHODS: Summary data of genome-wide association studies (GWASs) were obtained mainly from the Psychiatric Genomics Consortium (PGC) on individuals of European ancestry and from a recent GWAS on IBS. We used three MR methods, the inverse-variance weight

Insight into the relationship between resting heart rate and atrial fibrillation: a Mendelian randomization study.

AIMS: A low resting heart rate (RHR) implies a more efficient heart function and a lower risk of cardiovascular disease. However, observational studies have reported a U-shaped association between RHR and atrial fibrillation (AF). In contrast, Mendelian randomization (MR) studies have found an inverse causal association between RHR and AF. Hence, the causal nature of the relationship is not clear. The aim is to investigate the causal association and its shape between RHR on AF using linear and non-linear MR (NLMR). METHODS AND RESULTS: Linear and non-linear MR were performed on individual-lev

The role of plasma cortisol in dementia, epilepsy, and multiple sclerosis: A Mendelian randomization study.

BACKGROUND: Many clinical studies have shown a correlation between plasma cortisol and neurological disorders. This study explored the causal relationship between plasma cortisol and dementia, epilepsy and multiple sclerosis based on Mendelian randomization (MR) method. METHODS: Data were taken from the summary statistics of a genome-wide association study, FinnGen consortium and United Kingdom Biobank. Dementia, epilepsy, and multiple sclerosis were used as outcomes, and genetic variants associated with plasma cortisol were used as instrumental variables. The main analysis was performed usin

The causal relationship between osteoarthritis and bladder cancer: A Mendelian randomization study.

OBJECTIVE: The causal association between osteoarthritis (OA) and bladder cancer remains unclear. This Mendelian randomization (MR) study was carried out to assess the potential causal effects of any OA, knee OA and hip OA, and bladder cancer. METHOD: Genome-wide association study (GWAS) summary data for OA and bladder cancer were obtained in GWAS CATALOG, UK Biobank, and FinnGen Consortium. Inverse-variance weighted (IVW) approach was primarily conducted to evaluate the causal relationships between OA and bladder cancer, and MR-Egger intercept and Cochran's Q test were mainly used to estimat

Association between plasma proteome and childhood neurodevelopmental disorders: A two-sample Mendelian randomization analysis.

BACKGROUND: Childhood neurodevelopmental disorders, including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS), comprise a major cause of health-related disabilities in children. However, biomarkers towards pathogenesis or novel drug targets are still limited. Our study aims to provide a comprehensive investigation of the causal effects of the plasma proteome on ASD, ADHD, and TS using the two-sample Mendelian Randomization (MR) approach. METHODS: Genetic associations with 2994 plasma proteins were selected as exposures and genome-wid

Prenatal and Early Childhood Infections and Subsequent Risk of Obsessive-Compulsive Disorder and Tic Disorders: A Nationwide, Sibling-Controlled Study.

BACKGROUND: Postinfectious autoimmune processes are hypothesized to be causally related to both obsessive-compulsive disorder (OCD) and tic … play a direct causal role in the etiology of either OCD or TS/CTD. Instead, familial factors (e.g., genetic pleiotropy) may explain both the propensity to infections and the liability to OCD and TS/CTD.