Genetic Association - Science topic

The role of lipid-lowering drugs in chronic obstructive pulmonary disease (COPD) is controversial in clinical studies. This study aimed to explore the causal relationship between lipid-lowering drugs and COPD from a genetic perspective, and to evaluate the potential effects of this relationship. Four hundred and thirty-one lipid-related phenotypes...

Within the Genomic SEM framework, common factors are often used to index shared genetic etiology across constellations of GWAS phenotypes. A standard common pathway model, in which a genetic association is estimated between an external GWAS phenotype and a common factor, assumes that all genetic associations between the external GWAS phenotype and...

Type 2 diabetes mellitus (T2DM), a prevalent metabolic disorder marked by insulin resistance and hyperglycemia, has been linked to volumetric changes in subcortical regions, yet the genetic basis of this relationship remains unclear. We analyzed genome-wide association study summary data for T2DM and 14 subcortical volumetric traits, using MiXeR to...

Background The ACTN3 gene encodes the protein alpha-actinin-3, which is crucial for fast-twitch muscle fibers, contributing to rapid and forceful contractions. The distribution of these genotypes and their impact on sports performance in Brazilian populations are not well-documented. This study aimed to determine the allelic and genotypic frequency...

The role of gender in osteoarthritis (OA) has been reported. However, knowledge on whether gender-specific regulatory SNPs are determining factors in OA is limited. We aimed to identify susceptible gender-specific SNPs of transcription factor binding sites in OA. We used a modified NF-κB binding motif from an RNA sequencing data-inferred OA-associa...

Background and Aims Observational and experimental studies have provided substantial evidence supporting a link between cervical cancer and human papillomavirus (HPV) infection. Nevertheless, there is uncertainty regarding the association of benign and malignant cancers with HPV infection. Methods The study was divided into two approaches, Mendeli...

Broiler birds whose meat is considered healthy are assailed with diseases from hatch. However, vaccination protocols have been established to contain viral diseases. Unfortunately, bacterial diseases still menace poultry. In order to contain bacterial diseases, poultry farmers often abuse antibiotics and may not heed withdrawal periods before such...

Background The underlying association between educational attainment (EA) and chronic pain (CP) risk is not clear. This study aimed to investigate the causal relationship of EA with CP using Mendelian randomization (MR). Methods Single nucleotide polymorphisms (SNPs) for EA were selected from the Social Science Genetic Association Consortium (SSGA...

Purpose Recent advances in epidemiological and genetic studies have provided some insights regarding the pathophysiology of rosacea, but the majority of its underlying mechanisms are still poorly understood. In particular, more data are needed to fully understand the role of micronutrients in rosacea development. This study aimed to explore the cau...

In our previous studies on the liver proteome of Holstein cows, the acyl-CoA oxidase 2 (ACOX2) gene was identified as a promising candidate for milk traits, being involved in the processes of fatty acid metabolism and bile acid formation. Herein, we evaluated its genetic effects on milk production traits in 922 Chinese Holstein cows. By sequencing...

Objective: Attention-deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders in children and adolescents, often accompanied by motor function disorders. Sarcopenia not only has skeletal muscle dysfunction but also has neurocognitive dysfunction. At present, there is no research to explore the relationship betwe...

The discovery of genetic loci associated with brain architecture can provide deeper insights into neuroscience and improved personalized medicine outcomes. Previously, we designed the Unsupervised Deep learning-derived Imaging Phenotypes (UDIPs) approach to extract endophenotypes from brain imaging using a convolutional (CNN) autoencoder, and condu...

Human populations have substantial genetic diversity, but the extent of epigenetic diversity remains unclear, as population-specific DNA methylation (DNAm) has only been studied for ~3.0% of CpGs. This study quantifies DNAm using whole-genome bisulfite sequencing (WGBS) and analyzes it alongside whole-genome genotype data to reveal a comprehensive...

Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the ALPL gene, which encodes tissue non-specific alkaline phosphatase. One major challenge in diagnosing HPP is interpreting variants of uncertain significance (VUS), which can create uncertai...

Background and Objectives: Alopecia areata (AA) is a common cell-mediated autoimmune disease of the hair follicle that results in hair loss patches, affecting males and females of all ages and ethnicities. Although its etiology is not fully understood, AA is hypothesized to have a multifactorial basis with a strong genetic association. This study a...

Broiler birds whose meat is considered healthy are assailed with diseases from hatch. However, vaccination protocols have been established to contain viral diseases. Unfortunately, bacterial diseases still menace poultry. In order to contain bacterial diseases, poultry farmers often abuse antibiotics and may not heed withdrawal periods before such...

Chronic rhinosinusitis (CRS), a prevalent and debilitating disorder, is characterized by persistent sinus inflammation and a complex interplay of immune cell phenotypes, inflammatory cytokines, and genetic factors. This study employed bidirectional two-sample Mendelian randomization (MR) analysis to investigate the causal relationships between 731...

Purpose The relationship between idiopathic sleep-related phenotypes (SRPs) and sudden sensorineural hearing loss (ISSNHL) remains unclear. This study was designed to investigate the link between SRPs and ISSNHL from a genetic perspective through Mendelian randomization (MR) analysis. Methods ISSNHL trials were downloaded from Finngen database. SR...

The genetic determinants of low-density lipoprotein cholesterol (LDL-C) levels in blood have been predominantly explored in European populations and remain poorly understood in Middle Eastern populations. We investigated the genetic architecture of LDL-C variation in Qatar by conducting a genome-wide association study (GWAS) on serum LDL-C levels u...

Obesity represents a complex interplay between genetics, nutrition, and lifestyle. This study aimed to elucidate the intricate relationship between genetic variants, energy intake, and bioactive compounds in influencing obesity risk, particularly in low energy intake, to reveal how dietary intake modulates molecular-level interactions. We analyzed...

Background: Low-density lipoprotein cholesterol (LDL-C) is a well-established risk factor for cardiovascular disease, and it plays a causal role in the development of atherosclerosis. Genome-wide association studies (GWASs) have successfully identified hundreds of genetic variants associated with LDL-C. Most of these risk loci fall in non-coding re...

Background Late‐onset Alzheimer’s disease (LOAD) is highly heritable. ¹ Recent research suggested that population‐specific LOAD genetic risks may exist. ² The Mini‐Mental State Examination (MMSE; a measure of global cognitive function) has been commonly used to monitor AD‐related cognitive changes. MMSE raw scores have a strong ceiling effect (uppe...

Phenotypic and genetic relationships between white matter microstructure (i.e., fractional anisotropy [FA]) and peripheral inflammatory responses (i.e., circulating cytokines) have important implications for health and disease. However, it is unclear whether previously discovered genetic correlations between the two traits are due to tissue‐specifi...

Background Over‐representation of several health conditions (such as diabetes, hearing loss, etc) have been identified up to 15 years before Alzheimer’s Disease (AD) diagnosis through the study of electronic health records [1]. Mechanisms underlying these associations remain elusive. We propose to study the associations between these co‐pathologies...

This study proposes a novel approach for effective genetic sequence representation, focusing on the challenges of compressing and analyzing complex genomic data. We introduce a hybrid architecture that combines Bidirectional Encoder Representations from Transformers (BERT) with Long Short-Term Memory (LSTM) networks to generate comprehensive and co...

This study aimed to explore the potential causal link between genetic predisposition to various connective tissue diseases (CTDs), namely systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), polymyositis (PM), dermatomyositis (DM), systemic sclerosis (SSc), mixed connective tissue disease (MCTD), and rheumatoid arthritis (RA), and the incid...

Background/Objectives: Previous studies suggest that there is a genetically determined component of fat oxidation at rest and during exercise. To date, the FTO gene has been proposed as a candidate gene to affect fat oxidation during exercise because of the association of the “at-risk” A allele with different obesity-related factors such as increas...

Background Although observational studies have suggested a correlation between Sjogren's syndrome (SS) and autoimmune thyroid disease (AITD), a conclusive evidence supporting a causal relationship is still lacking. This study aims to explore the potential causal relationship between SS and AITD. Methods Using genome‐wide association studies, we pe...

Introduction: Schizophrenia (SCZ) is a severe mental illness influenced by genetic and environmental factors. Although genome-wide association studies (GWAS) have identified numerous genes linked to SCZ, their specific roles remain unclear. This meta-analysis explores the relationship between polymorphisms in the IL-2 (rs2069762) and EGR3 (rs375019...

Background: This study aims to investigate the genetic contribution of polymorphic variants of the TCF7L2 (rs7903146) and PPARG (rs1801282) genes to the risk of developing prediabetes in individuals of Kazakh ethnicity. Materials and Methods: This was a case-control study involving 200 cases with prediabetes and 200 prediabetes-free controls, aged...

Introduction: Idiopathic pulmonary arterial hypertension (IPAH) is a progressive and fatal disease. The aim of this study was to evaluate the association of polymorphism of the type 2 bone morphogenetic protein receptor gene (BMPR2) with the risk of IPAH development in an ethnic group of Kazakhs. We also describe the clinical and hemodynamic charac...

Type 2 diabetes (T2D) is often comorbid with cardiovascular diseases (CVDs). The direction of causation between T2D and CVD is difficult to determine; however, there may be a common underlying pathway attributable to shared genetic factors. We aimed to determine whether there is a shared genetic susceptibility to T2D and CVD. This study utilizes la...

Introduction: Cardiomyopathy, is a complex condition influenced by multiple genes and environmental factors. It has been suspected that cardiomyopathy is affected by the ACE gene's I/D polymorphism. Our study aimed to evaluate the association between this polymorphism and cardiomyopathy risk in the Jammu population of North India, alongside a meta-...

Background: Breast Cancer (BC) is the most prevalent cancer among women worldwide and is influenced by a combination of environmental and genetic factors. Among the genetic contributors, the estrogen receptor 1 (ESR1) gene and its associated polymorphisms, specifically XbaI and PvuII, have demonstrated variable risk patterns across different popula...

Due to the intricate etiology of neurological disorders, finding interpretable associations between multi-omics features can be challenging using standard approaches. We propose COMICAL, a contrastive learning approach leveraging multi-omics data to generate associations between genetic markers and brain imaging-derived phenotypes. COMICAL jointly...

Previous observational studies focused on the association of tea intake and allergic diseases. However, it is not known whether these associations are causal. We used a bidirectional Mendelian randomization (MR) study to assess the causal relationship of tea intake with the risk of allergic diseases, such as atopic dermatitis (AD), allergic rhiniti...

Background: The association between coffee and pancreatic cancer risk has reported inconsistent results. Therefore, a Mendelian randomization (MR) study was undertaken to investigate the association between coffee and pancreatic cancer from a genetic perspective. Methods: In East Asian and European populations, independent genetic variants strongly...

Coronary artery disease (CAD) is one of the most common types of cardiovascular disease and can lead to a heart attack as plaque gradually builds up inside the coronary arteries, blocking blood flow. Previous studies have shown that polymorphisms in the PAI-1 gene are associated with CAD; however, studies of the PAI-1 3′-untranslated region, contai...

Purpose While increasing observational studies have suggested an association between diabetes mellitus (DM) and vitiligo, the causal relationship and possible mechanism remain unclear. Methods Publicly accessible genome-wide association study (GWAS) was utilized to conduct a bidirectional two-sample Mendelian randomization (MR) analysis. GWAS data...

Purpose. Genomic ascertainment of electronic health record–linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non–NF1 RAS/mitogen–activated protein kinase genes (RASopathies). Patients and Methods. Germline RASopathy variants we...

Persistent opioid use after surgery is a common morbidity outcome associated with subsequent opioid use disorder, overdose, and death. While phenotypic associations have been described, genetic associations remain unidentified. Here, we conducted the largest genetic study of persistent opioid use after surgery, comprising ~40,000 non‐Hispanic, Euro...

The mechanisms of Parkinson’s disease (PD) are not fully understood, which hinders the development of effective therapies. Research indicates that lower levels of biochemical indicators like bilirubin, vitamin D, and cholesterol may elevate the risk of PD. However, clinical studies on abnormal levels of biochemical indicators in PD patients’ circul...

Previous study revealed that isocitrate dehydrogenase (NADP (+)) 2, mitochondrial (IDH2), lactate dehydrogenase A (LDHA), and lactate dehydrogenase B (LDHB) genes were significantly differentially expressed in liver tissues of Holstein cows among different lactation periods and associated with lipid and protein metabolism; hence, they were consider...

Background The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework specifies that case-control observations can be scored as ‘strong’ evidence (PS4) towards pathogenicity. Methods We developed the PS4-likelihood ratio calculator (PS4-LRCalc) for quantitative evidence assignment b...

Background Dyslipidemia is a recognized risk factor for type 2 diabetes (T2D), yet the genetic basis and causal nature remain unclear, particularly in Chinese populations. Objectives The authors investigated the causal effects of genetically predicted lipid levels on T2D risk and explored the potential effects of lipid-modifying drugs. Methods Le...

Background Lipid metabolism plays an essential role in nervous system development. Cholesterol deficiency leads to a variety of neurodevelopmental disorders, such as autism spectrum disorder and fragile X syndrome. There have been a lot of efforts to search for biological markers associated with and causal to ADHD, among which lipid is one possible...

Simple Summary Hundreds of common genetic variants have been linked to breast cancer, but their exact mechanisms of action remain unclear. Understanding these mechanisms could lead to better prevention strategies and improved survival rates. Our study focused on how these variants influence splicing—a process by which a gene’s coding elements are r...

Studies estimate that India has about 65+ million diabetic patients with a substantial impending increase, making it the international ‘diabetes capital’. Diabetes Mellitus is a metabolic disorder which is signified by elevated blood sugar levels due to defects in insulin action, secretion or both. Insulin resistance (IR) or insulin resistance-link...

Background The WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as diabetes mellitus and psychiatric diseases, which increases the rate of clinical misdiagnosis. Metho...

Background Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation globally. Disease-associated genetic variants play a significant role in the development of DCM. Accurately determining the prevalence of genetically associated DCM (genetic DCM) is important for developing targeted prevention strategies. This re...

Asia produces the majority of the world’s rice (Oryza sativa L.), one of the utmost vital fundamental food crops, with 90% of worldwide production. Because of increases in average temperature, climate change has a negative impact on rice yield. It is essential to develop such verities of rice that have potential to meet challenges of environmental...

Autoimmune patients have a significantly increased risk of developing coronary artery disease (CAD) compared to the general population. However, autoimmune patients often lack traditional risk factors for CAD and there is increasing recognition of inflammation in CAD development. In this study, we leveraged genome-wide association study (GWAS) data...

Background and Objectives The term “ALS Reversal” describes patients who initially meet diagnostic criteria for amyotrophic lateral sclerosis (ALS) or had clinical features most consistent with progressive muscular atrophy (PMA) but subsequently demonstrated substantial and sustained clinical improvement. The objective of this genome-wide associati...

Objective Several studies have explored the relationship between intracranial aneurysms and psychiatric disorders; nevertheless, the causal connection remains ambiguous. This study aimed to evaluate the causal link between intracranial aneurysms and specific psychiatric disorders. Methods A two-sample Mendelian randomization (MR) analysis was cond...

BACKGROUND While the phenotypic association between anti-Müllerian hormoneand age at menopause has been widely studied, the role of anti-Müllerian hormone in predicting the age at menopause is currently controversial, and the genetic architecture or causal relationships underlying these 2 traits is not well understood. AIM We aimed to explore the...

In the present investigation fifty-two maize genotypes were collected from various locations ofsouth India and were evaluated in Plant Breeding Farm, Department of Genetics and Plant Breeding, Annamalai University during rabi, September, 2018-January 2019 to estimate variability and correlation to identify potential inbreds to use them as parents f...

BACKGROUND Anhedonia is characterized by a reduced ability to anticipate, experience, and/or learn about pleasure. This phenomenon has a transdiagnostic nature and is one of the key symptoms of mood disorders, schizophrenia, addictions, and somatic conditions. AIM To evaluate the genetic architecture of anhedonia and its overlap with other mental...

Vascular cognitive impairment (VCI) is a heterogenous form of cognitive impairment that results from cerebrovascular disease. It is a result of both genetic and non‐genetic factors. Although much research has been conducted on the genetic contributors to other forms of cognitive impairment (e.g. Alzheimer's disease), knowledge is lacking on the gen...

Background: Celiac disease, a gluten-triggered autoimmune disorder, is known for its systemic inflammatory effects. Its genetic associations with type 2 inflammatory diseases like asthma, allergic rhinitis, and atopic dermatitis remain unclear, prompting this study to explore their potential genetic interplay. Methods: Utilizing two-sample Mendelia...

Background Polycystic ovary syndrome (PCOS) is a common endocrinological condition affecting women of reproductive age, associated with insulin resistance and obesity. PCOS pathogenesis is complex and multifactorial, involving genetic and environmental factors. Objectives This study aimed to determine and compare genotype and allele frequencies of...

Type-1 diabetes (T1D), an autoimmune disease, significantly impacts global health, with varying prevalence across different geographies. This study investigates the association of specific Human Leukocyte Antigen (HLA) Class II alleles, namely DQB1*03:02, DQB1*06:02, and DRB1*04:01, with T1D in the Khyber Pakhtunkhwa (KP) population of Pakistan. Co...

Background Headache is one of the most prevalent neurological manifestation. Abnormal vascular function and activation of inflammatory responses increase the sensitivity of pain, which together affect pain processing pathways. Lipids perform a variety of critical functions, dysfunction of lipid metabolism and homeostasis can be involve in a variety...

Background KCNE1 encodes a 129-residue cardiac potassium channel (IKs) subunit. KCNE1 variants are associated with long QT syndrome and atrial fibrillation. However, most variants have insufficient evidence of clinical consequences and thus limited clinical utility. Methods In this study, we leveraged the power of variant effect mapping, which cou...

Genome selection (GS) technology is an important means to improve the genetic improvement of dairy cows, and the mining and application of functional genes and loci for important traits is one of the important bases for accelerating genetic improvement. Our previous study found that the apolipoprotein A5 (APOA5) and AKT serine/threonine kinase 3 (A...

Methicillin-resistant Staphylococcus aureus (MRSA) is a predominant nosocomial infection-causing bacteria. The aim of this study was to develop a novel single-bacteria multiplex digital PCR assays (SMD-PCR), which is capable of simultaneously detecting and discriminating Methicillin-sensitive Staphylococcus aureus (MSSA) and MRSA. This protocol emp...

Background Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, which encodes the heavy chain of myosin 11. The aim of this study was to evaluate the genotype–phenotype correlation of MYH11 from...

Background. Diabetic retinopathy (DR) is a diabetic microvascular complication and a leading cause of vision loss. However, there is a lack of effective strategies to reduce the risk of DR currently. The present study is aimed at assessing the causal effect of lipid-regulating targets on DR risk using a two-sample Mendelian randomization (MR) study...

Purpose To explore the association between the genetics of age-related macular degeneration (AMD) and extramacular drusen (EMD) in patients with and without AMD. Methods We included 1753 eyes (912 subjects) with phenotypic characterization regarding AMD and EMD. Genetic sequencing and the genetic risk score (GRS) for AMD were performed according t...

Background Previous study suggested evidence for coexistence and similarities between endometriosis and polycystic ovary syndrome (PCOS), but it is unclear regarding the shared genetic architecture and causality underlying the phenotypic similarities observed for endometriosis and PCOS. Methods By leveraging summary statistics from public genome-w...

Background/aim: Cathepsin G (CTSG) has been identified as an inhibitor of breast, bladder, and colorectal cancers. The G allele of the N125S (A/G, rs45567233) functional polymorphism of the CTSG gene confers increased serum CTSG activity and has been associated with cardiovascular and neurovascular diseases. This study examined the possible correl...

p style="text-align: justify;">This article delves into the genetic underpinnings of anxiety, indicating that both state and trait anxiety have heritable components. However, there is no consensus on the degree of heritability, and much remains to be understood about the specific genetic variants involved and their mechanisms of action. The study e...

Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion PVS1). The exact nature and predictability of splicing effects of unselected rare CSSVs in blood-expressed g...

Background Endometriosis affects 10% of reproductive-age women, and yet, it goes undiagnosed for 3.6 years on average after symptoms onset. Despite large GWAS meta-analyses (N > 750,000), only a few dozen causal loci have been identified. We hypothesized that the challenges in identifying causal genes for endometriosis stem from heterogeneity acros...

Background Within the 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework, case-control observations can only be scored dichotomously as ‘strong’ evidence (PS4) towards pathogenicity or ‘nil’. Methods We developed the PS4-likelihood ratio calculator (PS4-LRCalc) for quantitative...