• There is need to investigate and document genetic variation at loci of pharmacogenetic relevance among different SSA populations since this information could be used to inform drug efficacy, safety and recommended dosage [ Reference Dandara 6 - Reference Masimirembwa and Hasler 8 ]. (cambridge.org)
  • The study found 13 loci (specific locations on various chromosomes) associated with COVID-19 susceptibility or severity through genome wide association studies (GWAS), as well as causal evidence for the association for body mass index (BMI) and smoking with COVID-19 severity through Mendelian randomization . (cdc.gov)
  • Specifically, for this study, 4 loci were found to be associated with COVID-19 susceptibility and 9 loci were associated with COVID-19 severity. (cdc.gov)
  • A 2017 study found 242 susceptibility loci - DNA sequence - for IBD. (medicalnewstoday.com)
  • Multiple genome-wide association studies (GWAS) over the past 10 years have uncovered more than 200 loci that independently contribute to disease pathogenesis. (researchgate.net)
  • The current study represents an important advance because it dramatically broadens the spectrum of genetic loci associated with Behcet's disease," said Dan Kastner, M.D., Ph.D., scientific director of the Intramural Research Program at the National Human Genome Research Institute and senior author of the study. (nih.gov)
  • In 2014, Genome-Wide Association Study (GWAS) was performed with 2,398 individuals with laryngeal squamous cell carcinoma cases and 2,804 cancer-free controls from Chinese populations, and identified a novel susceptibility loci in complex human leukocyte antigen (HLA), which plays crucial role in immune response. (who.int)
  • Genome-wide association studies (GWAS) have now identified 235 inflammatory bowel disease (IBD)-associated susceptibility loci, substantially expanding our understanding of the biology underlying these diseases. (medscape.com)
  • [ 8 , 9 ] Early genetic studies focused on searching protein coding sequences, although it is now recognised that coding variation explains only ~20% of genetic variation associated with IBD GWAS loci. (medscape.com)
  • Genetic polymorphisms in low penetrance genes are responsible for the alterations in the gene expression of critical signal transduction proteins and metabolic enzymes. (routledge.com)
  • This book collates the reviews on the roles played by polymorphisms in critical metabolic, signal transduction, cell cycle or DNA repair genes either directly or indirectly in the disease mechanisms. (routledge.com)
  • The present study examined the natural genetic variation in shadoo genes from humans and the model organisms mice and sheep. (usda.gov)
  • Pharmacogenomics provides an opportunity to identify candidate genes for studying disease progression and outcomes. (cambridge.org)
  • Certain genetic variations in the GPX1 (Glutathione peroxidase) and EPHX1 (Epoxide hydrolase) genes are among the few that have been studied by researchers. (livemint.com)
  • Most diseases involve complex interactions of the involved genes, in addition to environmental stimuli. (livemint.com)
  • Thus, the first step in identifying the disease-susceptibility genes should involve identification of candidate genes. (livemint.com)
  • Although we inherit genetic material from our parents, it is at times reshaped by certain epigenetic alterations-influencing (silencing or over-expressing) the activity of certain genes. (livemint.com)
  • This study also identifies immune system genes that may play a role in COVID-19 outcomes. (cdc.gov)
  • The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
  • We investigated the role of genes encoding proteins involved in epithelial integrity, chronic airway inflammation and airway remodeling in asthma. (rug.nl)
  • This study evaluated the association of the Nrf2 and HO-1 genes polymorphisms with vitiligo susceptibility. (nih.gov)
  • However, experts are still working to establish the precise role specific genes play, if any. (medicalnewstoday.com)
  • Since identical twins (monozygotic) share the same genetic material, twin studies help researchers understand which traits are due to genes and which are the result of environmental factors. (medicalnewstoday.com)
  • Cancer was the top disease linked to the NET-associated genes. (frontiersin.org)
  • Furthermore, research has identified specific genes more common in AA patients, indicating a polygenic susceptibility to the disease. (keratin.com)
  • Previous genetic risk studies have failed to identify consistently linked regions or genes outside of the major histocompatibility complex on chromosome 6p. (researchgate.net)
  • Genes definitely play a role. (webmd.com)
  • The next most prevalent aberrations include a cohort of chromatin-modifying genes with diverse roles including PBRM1 , SETD2 , BAP1 , and KMD5C . (springer.com)
  • The tool, GASPACHO, captures dynamic changes in gene expression along the innate immune response, allowing researchers to identify genes and molecular pathways associated with disease risk that have previously been too complex to detect or interpret. (sanger.ac.uk)
  • The study, published in Nature Genetics (12 June), helps to unpick the relationship between specific genes, their expression levels, and their potential connection in disease susceptibility. (sanger.ac.uk)
  • Part of this variation may be down to differences in our genes, specifically differences in our genetic regulation of gene expression. (sanger.ac.uk)
  • These are like signposts in our DNA that indicate which genetic variations are linked to changes in the expression of certain genes, affecting how much or how little a gene is dialled up or down, leading to differences in the levels of proteins produced by that gene. (sanger.ac.uk)
  • For nearly 2,000 years, traders used this 4,000-mile network linking the Far East with Europe to exchange goods, culture and, in the case of the Silk Road disease, genes. (nih.gov)
  • Currently, the big data efforts underway are not only establishing genes linked to the disease. (alsphiladelphia.org)
  • His active studies investigate the role of inherited genetics in the etiology and biology of BE/EAC using a combination of statistical, computational, and experimental approaches. (mskcc.org)
  • Major technological advances in the last few years have increased our knowledge of the role that genetics has in occupational diseases and our understanding of genetic components and the interaction between genetics and environmental factors. (cdc.gov)
  • Specifically, the role of genetic information in occupational disease is discussed in Chapter 2, followed in Chapter 3 by a presentation of how genetics is incorporated into occupational health research. (cdc.gov)
  • The framework for considering genetics in the exposure to disease paradigm arose from a National Academy of Sciences review on biomarkers [NRC 1987]. (cdc.gov)
  • This makes the role of population genetics extremely vital. (livemint.com)
  • Simply put, population genetics is the study of genetic variation within populations and assessment of changes in the frequencies of genetic variations and alleles in populations. (livemint.com)
  • Today, we are well-equipped with cost-effective technology, combined with increased awareness about the role of heredity and genetics in our lives. (livemint.com)
  • Although host genomics studies in COVID-19 are still a work in progress, this type of research has the potential for both a direct public health benefit resulting from genetic knowledge itself and an indirect benefit resulting from the use of genetics to identify modifiable environmental factors. (cdc.gov)
  • However, we showed that genetics play a role in the respiratory response of asthmatic children to air pollution by potentially regulating oxidant/anti-oxidant cellular mechanisms and inflammation. (rug.nl)
  • The schools plan to investigate host and pathogen genetics involved in Chlamydia and gonorrhea, study the urogenital polymicrobial microbiome, and hunt for markers that can indicate susceptibility to STIs and disease severity, as well as markers of protection from STIs and STDs. (genomeweb.com)
  • They propose that host genetics may be involved in determining susceptibility to STIs and disease severity. (genomeweb.com)
  • The role of genetics in AA is undeniable. (keratin.com)
  • For other people, genetics may not be involved, rather, the environment may play a very strong role, perhaps with several environmental triggers combining together to active the onset of disease. (keratin.com)
  • This paper provides a brief presentation on the genetics of multiple sclerosis susceptibility and on current work that uncovers the cellular effects, immunological and non-immunological, associated with genetic risk variants. (researchgate.net)
  • Although height genetics are unable to be changed, this finding may shed some light on the genetic and biological factors that drive both height and osteosarcoma. (alexslemonade.org)
  • The exact cause of autism is not entirely known, although genetics clearly plays an important role. (genome.gov)
  • Although no causal association was proven, there is an association between chronic periodontitis and erectile dysfunction, inflammatory bowel disease, heart disease, and pancreatic cancer. (wikipedia.org)
  • These may make a person more likely to develop an inappropriate immune response, resulting in inflammatory bowel disease (IBD) such as UC or Crohn's disease . (medicalnewstoday.com)
  • Inflammatory bowel disease (IBD) is a group of intestinal disorders affecting an estimated six to eight million people worldwide. (newswise.com)
  • The genetic associations have helped classify Behcet's disease with more common inflammatory conditions such as psoriasis, inflammatory bowel disease and a form of spinal arthritis called ankylosing spondylitis. (nih.gov)
  • Background The concept of an altered collective gut microbiota rather than identification of a single culprit is possibly the most significant development in inflammatory bowel disease research. (medscape.com)
  • We have entered the "omics" era, which now allows us to undertake large-scale/high-throughput microbiota analysis which may well define how we approach diagnosis and treatment of inflammatory bowel disease (IBD) in the future, with a strong steer towards personalised therapeutics. (medscape.com)
  • Methods A Medline search including items 'intestinal microbiota/microbiome', 'inflammatory bowel disease', 'ulcerative colitis', 'Crohn's disease', 'faecal microbial transplantation', 'dietary manipulation' was performed. (medscape.com)
  • The exact pathogenesis of AS remains poorly understood but genetic factors play a key role in its development. (molvis.org)
  • We will be identifying human and microbial biomarkers that will tell us who is most susceptible to infection, [and] who is most susceptible to severe disease, even in the absence of symptoms," added Patrik Bavoil, chair of the Department of Microbial Pathogenesis in the School of Dentistry. (genomeweb.com)
  • Whereas NETs have a protective role in host defense against pathogens, NETs have also been shown to be involved in the pathogenesis of various diseases including, thrombosis ( 2 ), cardiovascular diseases ( 3 , 4 ), auto-immune diseases ( 5 ) and sepsis ( 6 ). (frontiersin.org)
  • The focus of this initiative is to encourage studies to discover novel genetic paradigms that may account for the interactions between the virus, the host, and the therapeutic drugs in the central nervous system (CNS) that result in the pathogenesis, progression, and clinical manifestations of HAND. (nih.gov)
  • A critical role for the microbiome in the pathogenesis of IBD has been supported by studies revealing alterations in the composition and function of the intestinal microbiome in IBD patients and animal studies demonstrating that gut microbes modulate severity of experimental IBD models. (uclahealth.org)
  • Understanding genetic factors contributing to COVID-19 infection and severity may provide new biological insights into disease pathogenesis and identify therapeutic targets. (sanger.ac.uk)
  • However, its role in the pathogenesis of prion disease is seldom addressed. (bvsalud.org)
  • Recently, this signal of HLA region was confirmed to be specific to HPV(+) in oropharyngeal cancer suggesting the role of HLA variants in the immune pathogenesis. (who.int)
  • [ 10 ] These studies highlighted the pivotal role of host:microbial interactions in IBD pathogenesis, specifically identifying T-cell activation, IL-23/T helper 17 pathway, autophagy and microbial recognition. (medscape.com)
  • Genetic risk factors play an important role in autoimmune disease susceptibility. (hindawi.com)
  • We invite authors to submit original research articles about diverse autoimmune diseases which will advance our knowledge in this important group of conditions. (hindawi.com)
  • In particular, we are interested in papers describing novel genetic associations with autoimmune disease, genetic factors which predict disease outcome, or disease phenotype and papers which characterize the molecular or biological function of a known autoimmune disease risk variant. (hindawi.com)
  • For example, this study found a gene variant of TYK2, previously shown to protect against autoimmune-related diseases , to be associated with COVID-19 hospitalization and severity. (cdc.gov)
  • UC also shares a genetic architecture with multiple sclerosis , another autoimmune-mediated disease, according to a 2021 study . (medicalnewstoday.com)
  • The connection between trauma and autoimmune diseases is further supported by the involvement of heat shock proteins (HSPs) - proteins produced by cells under physical stress, which play a role in immune system responses and have been implicated in various autoimmune diseases. (keratin.com)
  • Here we have investigated a single nucleotide polymorphism (SNP) in the TNFRSF1A gene, that encodes tumour necrosis factor receptor 1 (TNFR1), which was discovered through GWAS to be associated with multiple sclerosis (MS), but not with other autoimmune conditions such as rheumatoid arthritis, psoriasis and Crohn's disease. (researchgate.net)
  • Importantly, TNF-blocking drugs can promote onset or exacerbation of MS, but they have proven highly efficacious in the treatment of autoimmune diseases for which there is no association with rs1800693. (researchgate.net)
  • Hence, our study demonstrates that clinical practice can be informed by comparing GWAS across common autoimmune diseases and by investigating the functional consequences of the disease-associated genetic variation. (researchgate.net)
  • Multiple sclerosis (MS) is a common autoimmune disease that targets myelin in the central nervous system (CNS). (researchgate.net)
  • Genetic polymorphisms are important determinants of phenotypic variations and may modulate the risk to or even cause various diseases including genetic disorders and multifactorial diseases. (routledge.com)
  • Genetic polymorphisms also serve as important genetic, population and evolutionary markers that allow the study of genetic and evolutionary aspects of individuals, populations and organisms and aid in tracing the evolutionary and parental lineages. (routledge.com)
  • Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. (routledge.com)
  • The prototype prion disease is scrapie in sheep, and, whereas, Prnp exhibits common missense polymorphisms for V136A, R154H and Q171R in ovine populations, genetic variation in mouse Prnp is limited. (usda.gov)
  • However, the link between Nrf2 promoter polymorphisms and susceptibility to oxidative stress-related diseases such as vitiligo is unknown. (nih.gov)
  • So far, the studies which explore the relationship between the E2F1 polymorphisms and ovarian cancer susceptibility are rare. (hindawi.com)
  • Among other factors, natural variation in the prion gene has been associated with disease susceptibility. (usda.gov)
  • This raises the possibility that, like the prion gene, genetic variation in shadoo may influence prion disease. (usda.gov)
  • The most highlighted impact of genomics is the inter-population variation, particularly the African genomic diversity, which could provide tools for improved understanding of individual variability in disease and pharmacology [ Reference Masimirembwa and Matimba 3 ]. (cambridge.org)
  • The results show that genetic variation determines epithelial integrity, the extent of the airway inflammation and remodeling, as well as the subsequent clinical severity (i.e. airway hyper-responsiveness, lung function level and decline over time) of adult individuals with asthma. (rug.nl)
  • Another project, directed by Ravel, will use a systems biology approach to identify biomarkers of the vaginal and penile microbiomes, and the genetic variation of hosts and pathogens that are associated with increased or decreased risks of infection by Chlamydia, gonorrhea, or both. (genomeweb.com)
  • Genome-wide eQTL mapping however, has shown potential in revealing underlying genetic mechanisms of variation in disease outcomes. (sanger.ac.uk)
  • They employed a novel approach to show how genetic variation within cells affects the overall immune response across individuals. (sanger.ac.uk)
  • Dr. Walsh has been investigating how genetic variation contributes to pediatric osteosarcoma risk. (alexslemonade.org)
  • Evolutionary biologists explore the origins and relationships between different organisms by examining the principles of natural selection and genetic variation. (freescience.info)
  • Through the study of genetic variation and natural selection, biologists can uncover the specific traits that enable organisms to thrive in different environments. (freescience.info)
  • Understanding these intricate relationships helps ecologists comprehend the delicate balance within ecological communities and the role of natural selection in driving variation. (freescience.info)
  • Our findings emphasize the importance of historical demographic events on hologenomic variation and provide new insights into how immunogenetic host variability and microbial diversity may jointly influence host fitness with consequences for disease susceptibility and population persistence. (lu.se)
  • This is known as genetic predisposition or susceptibility. (livemint.com)
  • Evidence indicates a higher incidence of AA among genetically related individuals, suggesting a genetic predisposition. (keratin.com)
  • The interplay between genetic predisposition, immune response, and environmental triggers is crucial in the manifestation of AA. (keratin.com)
  • Additionally, evidence also exists for a genetic predisposition to desmoid tumors in FAP, independent of the APC mutation. (medscape.com)
  • A number of potential etiologies and pathophysiological mechanisms for this condition have been proposed, but significant debate exists regarding which factor(s) are the most important to the incidence and progression of chronic kidney diseases in these agricultural communities. (nih.gov)
  • Disentangling the role of pulmonary impairment in lung cancer development is important from an etiological perspective, for refining disease susceptibility mechanisms, and for informing precision prevention and risk stratification strategies. (nature.com)
  • The role of African genome diversity and the opportunities for pharmacogenomics research are highlighted and will enable discovery of novel genetic mechanisms and validation of established markers. (cambridge.org)
  • The growing burden of disease including infectious diseases such as HIV and TB as well as non-communicable diseases such as diabetes, cardiovascular disease and cancer, requires understanding the underlying molecular mechanisms of susceptibility, drug response and resistance towards improving health solutions in SSA [ Reference Sirugo 1 ]. (cambridge.org)
  • Pharmacogenomics in SSA populations will probe the widest genetic diversity and improve the chances of identifying novel and relevant mechanisms of disease and for targeted therapies to sub-populations. (cambridge.org)
  • Other benefits genetic associations can provide are through understanding the COVID-19 biological mechanisms and the potential for developing drug targets. (cdc.gov)
  • The genetic background and underlying mechanisms contributing to NET formation remain unclear. (frontiersin.org)
  • Neutrophils play important roles in host defense through different mechanisms, including the formation of neutrophil extracellular traps (NETs) ( 1 ). (frontiersin.org)
  • Although the role of NETs in health and disease has been postulated, the molecular mechanisms of NET formation remain elusive. (frontiersin.org)
  • The assessment of genetic variants in association with NETs might help to elucidate potential molecular mechanisms intervening in their formation and their downstream effect on other pathways. (frontiersin.org)
  • Disease Models & Mechanisms , 15(5), article no. dmm049218. (open.ac.uk)
  • It is hoped the tool can be applied to discover further susceptibility mechanisms across other human disorders. (sanger.ac.uk)
  • While this genetic alteration needs to be explored further to fully understand the role it plays, it offers insights into the molecular mechanisms underlying susceptibility to COVID-19 and other immune-related diseases, providing a basis for developing potential therapies harnessing these genetic mechanisms. (sanger.ac.uk)
  • The integration of pathogen-associated molecular patterns (PAMPs) from microorganisms with their surface receptors in the immune cells, induces the production of several cytokines and chemokines that presents either a pro- and/or anti-inflammatory role by stimulating the secretion of a great variety of antibody subtypes and the activation of mechanisms of controlling the disease, such as the regulatory T cells. (bvsalud.org)
  • Although several studies have tried to clarify some of the immune mechanisms involved in periodontal disease, more studies must be conducted to understand its development and progression and consequently to discover new alternatives for the prevention and treatment of this severe inflammatory disease. (bvsalud.org)
  • Therefore, this review summarizes some immune mechanisms involved in periodontal disease. (bvsalud.org)
  • The host genome influences innate and adaptive immunity and can explain some of the differences in risk of disease and severity among those exposed to the same pathogen. (cdc.gov)
  • In this study we comprehensively assess the shared genetic basis of impaired lung function and lung cancer risk by conducting genome-wide association analyses in the UK Biobank cohort to identify genetic determinants of three pulmonary phenotypes, forced expiratory volume in 1s (FEV 1 ), forced vital capacity (FVC), and FEV 1 /FVC. (nature.com)
  • We performed a genome-wide association study (GWAS) and exome-sequencing analysis to identify common and rare genetic variants associated with plasma myeloperoxidase (MPO)-DNA complex levels, a biomarker for NETs, in the population-based Rotterdam Study cohort. (frontiersin.org)
  • Genome-wide association studies (GWAS) and exome-sequencing analysis have been successfully implemented as approaches to identify genetic variants associated with disease susceptibility. (frontiersin.org)
  • The use of state-of-the-art genetic approaches (including transcriptomics, phenomics, epigenomics, whole genome association studies, next generation sequ encing, exome sequencing, & systems biology) to identify and validate (including in vitro models, animal models, & human samples) viral and host genetic factors which influence the pathophysiology of HAND are encouraged. (nih.gov)
  • Although there has been much success in identifying genetic variants associated with common diseases using genome-wide association studies (GWAS), it has been difficult to demonstrate which variants are causal and what role they have in disease. (researchgate.net)
  • While genome-wide association studies (GWAS) have identified numerous disease-associated variants involved in gene expression, implicating the involvement of eQTLs, they are unable to show any causal relationships. (sanger.ac.uk)
  • The team identified 1,275 eQTLs within the genome which alter gene expression along the innate immune response between people, relevant for 40 immune-related diseases such as Crohn's disease and diabetes. (sanger.ac.uk)
  • Researchers have identified four new regions on the human genome associated with Behcet's disease, a painful and potentially dangerous condition found predominantly in people with ancestors along the Silk Road. (nih.gov)
  • Genetic factors are thought to play a role in susceptibility to Behcet's disease, with the human leukocyte antigen (HLA) B-51 gene region of the genome, accounting for about 20 percent of genetic risk for the disease. (nih.gov)
  • Researchers conducted a genome-wide association study (GWAS) that enrolled 1,209 Turkish people affected by Behcet's disease and 1,278 unaffected Turkish people - all residents of the country. (nih.gov)
  • Indeed, we would suggest that focusing on environmental cues is likely to influence such behaviours more than repeatedly providing information about genetic risk, gene environment interactions or the results of genome sequencing. (bmj.com)
  • Still, we have limited knowledge about what causes this individual susceptibility and probably differences in the genome role play a major role. (lu.se)
  • [ 11-13 ] The most recent studies have undertaken low-coverage whole genome sequencing to interrogate low-frequency variants and define how much these variants contribute to IBD susceptibility. (medscape.com)
  • In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests which quickly and economically analyze the entire human genome. (cdc.gov)
  • Epidemiologic evidence suggests that caques and squirrel monkeys, as human models for CWD CWD continues to spread among cervid populations in susceptibility. (cdc.gov)
  • Shadoo from human and mouse populations showed relatively little genetic diversity compared to sheep. (usda.gov)
  • One disease of particular concern is Type 2 diabetes, which is linked to overweight and obesity and has increased dramatically in children and adolescents, particularly in American Indian, African American and Hispanic/Latino populations. (hhs.gov)
  • While behavioral and pharmaceutical interventions can moderate disease progression, there is no cure. (jax.org)
  • Pathogen and host factors both affect infectious disease susceptibility and progression. (cdc.gov)
  • A positive correlation between raised levels of glucose within the blood and the onset or progression of periodontal disease has been shown in the current literature. (wikipedia.org)
  • [ 2 ] Today, patients are often diagnosed at earlier stages, so the time of progression to advanced disease may take longer. (medscape.com)
  • Progression of disease is also delayed by currently available effective therapies. (medscape.com)
  • This review discusses the role of adipokines and PPARs with regard to hepatic energy metabolism and progression of NAFLD. (wjgnet.com)
  • Progression of this disease occurs due to a combination of factors, including the presence of periodontopathic bacteria, high levels of proinflammatory cytokines, matrix metalloproteinases (MMPs), prostaglandin E2 (PGE2), low levels of anti-inflammatory cytokines including inter- leukin-10 (IL-10), transforming growth factor (TGF- β ) and tissue inhibitors of MMPs (TIMPs) (2,3). (bvsalud.org)
  • infected cattle and sheep with CWD by the intracerebral prion diseases, are neurodegenerative diseases that route and found protease-resistant PrP (PrPres) in 5 of 13 affect many mammalian species. (cdc.gov)
  • Targeting APOE may be a potential approach for diagnosis, risk assessment, prevention, and treatment of various neurodegenerative and cardiovascular diseases in humans. (dovepress.com)
  • Prion diseases are a diverse group of neurodegenerative diseases, caused by prion protein misfolding. (bmj.com)
  • Multiple sclerosis is a demyelinating neurodegenerative disease with a strong genetic component. (researchgate.net)
  • Galectin 3 (Gal-3) is one of the major elements for activating microglia and mediating neuroinflammation in some types of neurodegenerative diseases. (bvsalud.org)
  • As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population. (molvis.org)
  • We examine the genetic correlation between pulmonary function phenotypes and lung cancer, followed by Mendelian randomization (MR) using novel genetic instruments to formally test the causal relevance of impaired pulmonary function, using the largest available dataset of 29,266 lung cancer cases and 56,450 controls from the OncoArray lung cancer collaboration 16 . (nature.com)
  • Prion diseases are a group of fatal brain-wasting diseases in humans and animals. (usda.gov)
  • The prion gene and its encoded prion protein have long been known to play a central role in prion diseases. (usda.gov)
  • Shadoo expression has been linked to mouse and human prion diseases, thus, investigating shadoo will shed light onto prion diseases and their potential prevention and cure. (usda.gov)
  • This protein is expressed in the central nervous system (CNS) and serves as a precursor to the misfolded PrP**S**c isoform in prion diseases. (usda.gov)
  • Type 2 diabetes is a major health problem throughout much of the world, and now JAX researchers are targeting it on a genetic level. (jax.org)
  • Diseases such as obesity, diabetes, and hypertension have been found to be closely associated with the incidence of NAFLD. (wjgnet.com)
  • This review will summarize the updated research progress on APOE functions and its role in Alzheimer's disease, Parkinson's disease, cardiovascular diseases, multiple sclerosis, type 2 diabetes mellitus, Type III hyperlipoproteinemia, vascular dementia, and ischemic stroke. (dovepress.com)
  • 3 In this review, we discuss the biological functions of human APOE and its role in Alzheimer's disease (AD), Parkinson's disease (PD), cardiovascular diseases (CVD), multiple sclerosis (MS), type 2 diabetes mellitus (T2DM), vascular dementia (VD), and ischemic (occlusive) stroke (IS). (dovepress.com)
  • Blacks are up to 2.5 times more likely to suffer a limb amputation and up to 5.6 times more likely to suffer kidney disease than other people with diabetes . (webmd.com)
  • Here, we are the first to apply these approaches to ascertain common and rare genetic variants associated with NETs using data from a population-based cohort study. (frontiersin.org)
  • Biomarkers are measurements using biological tissues that give information about exposure, effect of exposure, or susceptibility. (cdc.gov)
  • The study of biomarkers of genetic susceptibility in the context of workplace exposures can provide information about gene-environment interactions. (cdc.gov)
  • NEW YORK (GenomeWeb) - The University of Maryland's Schools of Dentistry and Medicine said today they have jointly received a $10.7 million grant from the National Institute of Allergy and Infectious Diseases to use omics methods to identify molecular biomarkers related to sexually transmitted infections and diseases. (genomeweb.com)
  • In another study, Bavoil will work with Garry Myers, an associate professor at the University of Technology in Sydney, Australia, to identify antibody and miRNA biomarkers for Chlamydia infection, Chlamydia and gonorrhea co-infection, and pelvic inflammatory disease. (genomeweb.com)
  • The goal is to find biomarkers that predict the risk of developing disease. (lu.se)
  • Genetic susceptibility, then, also plays a large role, but efforts to identify the causative factors have encountered daunting challenges. (jax.org)
  • Lung cancer and obstructive pulmonary disease share multiple etiological factors, such as cigarette smoking, occupational inhalation hazards, and air pollution, and 50-70% of lung cancer patients present with co-existing COPD or airflow obstruction 6 . (nature.com)
  • Genetic factors can also play a role in susceptibility to these conditions. (thailand-business-news.com)
  • Malaysia faces this issue due to unhealthy diets and genetic factors.How do hydrogen molecules help to relieve three highs?Hydrogen water and hydrogen inhalation harness the power of hydrogen to provide potential relief from the three highs. (thailand-business-news.com)
  • The use of genetic information, along with all of the other factors that contribute to occupational morbidity and mortality, will play an increasing role in preventing occupational disease. (cdc.gov)
  • Genetic and environmental factors are important for the development of NAFLD. (wjgnet.com)
  • Even though genetically predisposed individuals may lead a healthy lifestyle, they have an inherent risk of contracting a disease, independent of environmental factor, unless the risk factors are properly addressed. (livemint.com)
  • The genetic composition of a population's gene pool changes over time owing to mutation and other factors. (livemint.com)
  • The risk of developing Lyme disease is influenced by a variety of lifestyle and environmental factors that reflect how likely a person is to get bitten by an infected tick, such as where a person lives, how much time is spent outdoors, and the time of year. (medlineplus.gov)
  • While there is no evidence that genetic factors play a role in susceptibility to Lyme disease, such factors may affect the severity of the disease, particularly whether antibiotic-refractory Lyme arthritis develops. (medlineplus.gov)
  • Ulcerative colitis (UC) appears to run in families, suggesting that genetic factors may play a role. (medicalnewstoday.com)
  • This article discusses the genetic factors linked with ulcerative colitis and other triggers that may set off the disease. (medicalnewstoday.com)
  • In this instance, environmental factors may play a more significant role in determining UC than other triggers. (medicalnewstoday.com)
  • E2F1 is one of the transcription factors that cells enter the S phase and plays a key role in cell cycle. (hindawi.com)
  • The National Institute of Mental Health (NIMH) and The National Institute of Neurological Disorders and Stroke (NINDS) solicit research grant applications to supp ort studies focused on viral and host genetic factors involved in HIV-1 Associated Neurocognitive Disorders (HAND) in the setting of highly active anti-retroviral therapy (HAART). (nih.gov)
  • It is believed to arise from a combination of genetic susceptibility and environmental factors that trigger an inappropriate mucosal inflammatory response. (uclahealth.org)
  • Named for the Turkish physician who described it in 1937, Behcet's (pronounced BET'-chets) disease is triggered by complex genetic and environmental factors, and causes inflammation of blood vessels in various parts of the body. (nih.gov)
  • Each of the genetic factors may contribute a little to the overall risk of disease," said Elaine F. Remmers, Ph.D., staff scientist in NHGRI's Inflammatory Disease Section and study co-author. (nih.gov)
  • It is most likely that environmental factors are not sufficient to cause disease but work in conjunction with genetic susceptibility. (alsphiladelphia.org)
  • Environmental inquiries also include epidemiologic studies, which are studies of factors that influence the frequency and distribution of disease, injury and other health-related events and their causes in a defined human population. (alsphiladelphia.org)
  • Stanford University's ALS Consortium of Epidemiologic Studies (ACES) is used by scientists as a resource to support research to identify environmental, lifestyle and genetic factors associated with ALS. (alsphiladelphia.org)
  • This information can help clinicians and scientists work more rapidly toward a cure by both better understanding who gets ALS and what factors are contributing to disease, among other goals. (alsphiladelphia.org)
  • By leveraging a large multi-ethnic patient population drawn from the California Birth Cohort, we will compare the genomes of 545 children with osteosarcoma to the genomes of 3545 cancer-free individuals to identify genetic risk factors underlying this disease. (alexslemonade.org)
  • In addition to studying the heritable causes of osteosarcoma, we also seek to identify genetic variants that are associated with poor prognostic factors, such as larger tumor size and presence of distant metastases. (alexslemonade.org)
  • However, unknown genetic factors independent of APC may be important in the susceptibility to desmoid tumors in patients with FAP. (medscape.com)
  • Although alcohol, tobacco, and human papillomavirus (HPV) are major risk factors for HNC, only a small fraction of high-risk individuals developed HNC implying a crucial role of genetic susceptibility in the disease etiology. (who.int)
  • This review summarizes some immunological factors involved in the development and control of this oral disease, such as: the participation of inflammatory cells in local inflammation, the synthesis of chemotaxis proteins with activation of the complement system and a range of antimicrobial peptides, such as defensins, cathelicidin and saposins. (bvsalud.org)
  • genetic and environmental factors seem to increase the susceptibility of some individuals in developing this severe inflammatory disease (1) ( Fig. 1 ). (bvsalud.org)
  • This condition has variously been referred to as chronic kidney disease of unknown (CKDu) or non-traditional etiology (CKDnt), chronic intersitital nephritis in agricultural communities (CINAC) and Mesoamerican nephropathy (MeN). (nih.gov)
  • These findings support a causal role of pulmonary impairment in lung cancer etiology. (nature.com)
  • Non-coding regions are known to regulate gene expression, and the finding indicates that alterations in regulation networks play a larger role in disease risk than protein-coding variants. (jax.org)
  • Altered islet cell CRE activity has been implicated in T2D genetic risk, but previous investigations have found altered gene expression levels or transcription accessibility at only about a quarter of the T2D-associated locations under steady-state conditions. (jax.org)
  • Recently, a second gene and its protein (shadoo) have also been implicated in prion disease. (usda.gov)
  • and laboratory-based functional assays to validate and characterize candidate functional/causal variants, gene targets, and disease pathways. (mskcc.org)
  • Dose adjustments have been recommended for efavirenz due to genetic variations in CYP2B6 gene, which results in HIV patients in SSA requiring a reduced dose [ Reference Mukonzo 4 , Reference Dhoro 5 ]. (cambridge.org)
  • With genetic analysis, a person can benefit from timely interventions and gene-targeted treatments. (livemint.com)
  • Here, a phylogenetic tree visualizes the genetic affinity between Lyme disease bacteria isolated from ticks in Binghamton region (white circles/nodes) and bacteria reported from elsewhere according to the bacteria's ospC gene DNA sequences. (binghamton.edu)
  • The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. (alzforum.org)
  • Genetic associations could also provide valuable information through gene-environment interaction. (cdc.gov)
  • A non-COVID-19 example of this includes the interaction between variants in the nitric oxide synthase (NOS) gene and pesticide exposure increasing risk for Parkinson's disease . (cdc.gov)
  • We showed that gene by inhaled corticosteroids and gene by smoking interactions also play a role in the clinico-pathological expression of the disease. (rug.nl)
  • Aside from the strong genetic risk conferred by multiple variants of the prion protein gene (PRNP), several other risk variants have been suggested. (bmj.com)
  • Studies have found that E2F1 is highly expressed in a variety of tumor tissues and cells and plays a role of oncogenic gene [ 10 - 13 ]. (hindawi.com)
  • Using GASPACHO (GAuSsian Processes for Association mapping leveraging Cell HeterOgeneity), researchers at the Wellcome Sanger Institute, the National Center for Child Health and Development in Japan, Tel Aviv University and their collaborators have identified a gene variant that affects COVID-19 susceptibility. (sanger.ac.uk)
  • Each of the four newly identified gene regions is already known to play a role in immune regulation. (nih.gov)
  • An important association between Behcet's disease and a gene called ERAP1. (nih.gov)
  • Gardner syndrome was regarded as a separate disease until the identification of the APC (adenomatous polyposis coli) gene, at which point mutations in the APC gene were recognized as the underlying cause of both Gardner syndrome and FAP. (medscape.com)
  • Desmoid tumors occur at a rate of 10-15% in patients with FAP, an autosomal inherited disease caused by germline mutations in the APC gene. (medscape.com)
  • Although, they concluded that Crohn's disease may show a more frequent familial pattern than UC. (medicalnewstoday.com)
  • IBD - comprised of Crohn's disease (CD) and ulcerative colitis (UC) - is a chronic inflammatory disease with growing prevalence throughout the world. (uclahealth.org)
  • In particular, a loss of species richness in Crohn's disease has been widely observed. (medscape.com)
  • This approach has identified a missense variant in ADCY 7, with mechanistic interpretation being that loss of function reduces cAMP production leading to an excessive inflammatory response that predisposes to ulcerative colitis but not Crohn's disease (CD). (medscape.com)
  • By analysing MS GWAS data in conjunction with the 1000 Genomes Project data we provide genetic evidence that strongly implicates this SNP, rs1800693, as the causal variant in the TNFRSF1A region. (researchgate.net)
  • Chronic wasting disease (CWD) is a transmissible in sheep and goats, Creutzfeldt-Jakob disease (CJD) in spongiform encephalopathy, or prion disease, that affects humans, and chronic wasting disease (CWD) in cervids. (cdc.gov)
  • Ankylosing spondylitis (AS) is a chronic inflammatory rheumatic disease that characteristically affects the sacroiliac joints and the spine. (molvis.org)
  • This study also described a cumulative effect, with the highest incidence reported in families where the disease affects three or more family members. (medicalnewstoday.com)
  • My research focuses on how the genetic background affects our susceptibility to the environment. (lu.se)
  • There is also a complex interplay of genetic susceptibility and environmental triggers. (medicalnewstoday.com)
  • Alleles are nucleotide bases (A, T, G and C) found in the DNA in different combinations and demonstrate genetic variations. (livemint.com)
  • Since it is likely to be very short, such research might not yield much useful information on, for example, inherited genetic disorders or genetic ageing. (who.int)
  • Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
  • Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
  • The signs and symptoms of Lyme disease result from the body's immune response to the bacteria. (medlineplus.gov)
  • However, the immune response initiated by periodontal disease seems to be much broader. (bvsalud.org)
  • Specific areas of focus include understanding microbial changes that precede the onset of IBD, investigating dietary effects on the IBD-associated microbiome and intestinal inflammation, and defining brain-gut-microbiome pathways in IBD that mediate the link between stress and disease flares. (uclahealth.org)
  • It has long been believed that immune system dysfunction, in concert with genetic susceptibility and changes in the gut microbiome, plays a significant role in IBD. (newswise.com)
  • Aim To assess current epidemiological, experimental and clinical evidence of the current status of knowledge relating to the gut microbiome, and its role in IBD, with emphasis on reviewing the evidence relating to microbial therapeutics and future microbiome modulating therapeutics. (medscape.com)
  • This provides a new insight in protein-degradation study as wellas Parkinson's Disease. (alzforum.org)
  • A very interesting paper: I caution still, however, that a genetic role for UCH-L1 in Parkinson's is not yet established. (alzforum.org)
  • This chronic inflammatory disease results from the response to bacteria in dental biofilm and may remain confined to the gingival tissues with minimal tissue alterations or this disease may progress to extreme periodontal destruction with the loss of attachment and alveolar bone. (bvsalud.org)
  • Understanding the mutations in APOE, their structural properties, and their isoforms is important to determine its role in various diseases and to advance the development of therapeutic strategies. (dovepress.com)
  • After examining the self-reported data alongside medical records, the researchers found that perceived racism in employment, housing, and interactions with the police was associated with a 26 percent higher risk of coronary heart disease for Black women. (stanford.edu)
  • Researchers believe that the classical photoreceptors (e.g., the rods and the cones) are responsible for the image-forming vision, whereas the ipRGCs play a key role in the non-image forming vision. (researchgate.net)
  • The researchers noted that much more work is needed to gain a deeper understanding of the role of tissue-resident memory T cells in IBD and to determine whether they can be targeted therapeutically. (newswise.com)
  • Researchers have discovered a mechanism for COVID-19 susceptibility using a newly created tool. (sanger.ac.uk)
  • Researchers then compared SNP differences between people with and without disease. (nih.gov)
  • From nearly 800,000 SNPs, researchers detected and mapped a small number that are found in those who have Behcet's disease at a significantly higher rate than in those without the disease, suggesting that the variant or another one nearby contributes to the disease. (nih.gov)
  • Animal models (e.g., mice, rats, zebrafish and others) are sufficiently like humans in their anatomy, physiology or response to a pathogen that researchers can extrapolate the results of animal model studies to better understand human physiology and disease. (genome.gov)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • Patients with PBC need continuing follow-up, treatment, screening for complications of disease, and referral to liver transplant centers with development of cirrhosis or hepatocellular carcinoma . (medscape.com)
  • It was established in 2008 by the Centers of Disease Control (CDC) Agency for Toxic Substances and Disease Registry (ATSDR) to learn more about ALS by gathering information directly from people living with ALS. (alsphiladelphia.org)
  • Health care disparities heighten disease differences between African-Americans and white Americans. (webmd.com)
  • His research is examining the genetic differences between the two groups, drawing on an analysis of the bloodspots and birth certificate data. (alexslemonade.org)
  • Recent advances in genotyping techniques, statistical methods, and the organization of large patient cohorts have facilitated explosive progress in this field, and our understanding of the genetic architecture of human autoimmunity is rapidly expanding. (hindawi.com)
  • Most studies of the PTPN22 disease variant have suggested that this variant is a gain-of-function genetic mutation that enhances LYP activity and lessens the activity of T and B cells, which increases susceptibility to autoimmunity. (genengnews.com)
  • Human susceptibility to CWD remains CWD was first found in captive deer in Colorado in 1967 unproven despite likely exposure to CWD-infected cervids. (cdc.gov)
  • Knowledge of the genetic basis of disease provides us with a unique window into human pathophysiology, which will facilitate improved diagnostic and therapeutic strategies and enable personalized medicine. (hindawi.com)
  • Human leukocyte antigen B27 ( HLA-B27 ) is the major genetic susceptibility marker in AS. (molvis.org)
  • Some disease outcomes may occur through an interaction between the human genotype and the environment, not solely because of human genotype or environmental exposures. (cdc.gov)
  • The nuclear factor erythroid-derived two-like 2-antioxidant response element (Nrf2-ARE) pathway and its downstream antioxidant enzyme heme oxygenase-1 (HMOX1 or HO-1) play essential roles in H2 O2 -induced oxidative damage in human melanocytes. (nih.gov)
  • In one effort, two investigators from Duke University will explore the role of human genetic variants in interactions between the host microbiota and the STI pathogens. (genomeweb.com)
  • Several participants reported interest among the scientific and medical communities of their countries and regions in the use of somatic cell nuclear transfer techniques to produce cloned human embryos for time-limited basic research on ageing and genetic diseases. (who.int)
  • An animal model is a non-human species used in biomedical research because it can mimic aspects of a biological process or disease found in humans. (genome.gov)
  • We are also identifying them in pathways that are important in inflammatory disease development. (nih.gov)
  • Biological pathways related to childhood growth and development likely play an important role in the development of osteosarcoma, but congenital causes remain poorly understood. (alexslemonade.org)
  • Periodontal disease, also known as gum disease, is a set of inflammatory conditions affecting the tissues surrounding the teeth. (wikipedia.org)
  • Periodontal disease is generally due to bacteria in the mouth infecting the tissue around the teeth. (wikipedia.org)
  • This can subsequently cause and/or accelerate periodontal tissue destruction leading to periodontal disease. (wikipedia.org)
  • Oral cancer and periodontal disease Current literature suggests a link between periodontal disease and oral cancer. (wikipedia.org)
  • Studies have confirmed an increase in systemic inflammation markers such as C-Reactive Protein and Interleukin-6 to be found in patients with advanced periodontal disease. (wikipedia.org)
  • Both periodontal disease and cancer risk are associated with genetic susceptibility and it is possible that there is a positive association by a shared genetic susceptibility in the two diseases. (wikipedia.org)
  • Therefore, there is general support for this concept of periodontal disease. (bvsalud.org)
  • In these regions of the United States, the incidence of Lyme disease is 10 to 100 cases per 100,000 people each year. (medlineplus.gov)
  • The incidence of disease is defined as the number of new cases per year within a defined population during a specific period of time. (alsphiladelphia.org)
  • [ 4 ] The majority of patients (95%) will have circulating antimitochondrial antibodies (AMAs) that develop before the onset of clinical disease. (medscape.com)
  • Patients may be asymptomatic or present with slowly progressive or rapidly progressive clinical disease. (medscape.com)
  • The possibility of finding these candidates is empowered by the significant impact (effect size) of drug response phenotypes such as adverse drug reactions and treatment outcomes, in contrast to other complex traits such as disease susceptibility and health [ Reference Maranville and Cox 2 ]. (cambridge.org)
  • In an article published by Boston University, Andrew Thurston sheds light on a groundbreaking study that establishes a strong correlation between experiencing racism and an increased risk of heart disease among Black women. (stanford.edu)
  • This study confirms the findings of previous studies by providing evidence for the role of blood type in COVID-19 susceptibility. (cdc.gov)
  • The variants of ERAP1 identified in this study increase the risk of Behcet's disease, but only in those individuals with one specific HLA type, HLA-B51, which has previously been associated with Behcet's disease. (nih.gov)
  • He continues to incorporate genetic data into his study to gain more specific understanding of osteosarcoma, the third most common cancer in adolescents. (alexslemonade.org)
  • Methods: A one-year prospective longitudinal sub-cohort investigation was carried out among 199 adolescents engaged in NSSI and one of their important guardians from the Longitudinal Psychosomatic Disease Study (LoPDS). (bvsalud.org)
  • Evolutionary biology, including the study of genetic diversity and population structure, is crucial for guiding conservation efforts. (freescience.info)
  • We plan to bring together clinicians, basic scientists, epidemiologists, and public health officials to discuss the current gaps in knowledge and to develop a coordinated scientific research agenda leading to a better understanding of the causes and potential treatments of chronic kidney diseases in agricultural communities. (nih.gov)
  • Dr. Buas' primary research focus is the molecular/genetic epidemiology of esophageal adenocarcinoma (EAC) and its precursor lesion, Barrett's esophagus (BE). (mskcc.org)
  • However, the use of genetic information in occupational safety and health research and practice presents both promise and concerns [McCanlies et al. (cdc.gov)
  • One major emphasis of genetic research in occupational disease has been in the area of response variability. (cdc.gov)
  • Advances in research on adipose tissue suggest an integral role played by adipokines in NAFLD. (wjgnet.com)
  • Advancement in genetic research and testing have aided our understanding and helped us in mapping the disease at the molecular level through genetic associations. (livemint.com)
  • The increase in genomic data in recent years has enabled us to conduct more association studies, thus fortifying genetic research. (livemint.com)
  • To determine the association between racial discrimination and heart disease, the research team employed a detailed questionnaire that assessed participants' experiences of racism in various contexts, such as work, housing, and public spaces. (stanford.edu)
  • Therefore, improving the early diagnosis rate, chemotherapy drug sensitivity, reducing tumor recurrence, and improving disease prognosis are the focus of diagnosis and treatment research at the present stage [ 8 , 9 ]. (hindawi.com)
  • Fighting back means genetic research. (webmd.com)
  • Our advocacy efforts to support National ALS Registry funding is necessary to continue the registry, fund registry-related ALS research, help people with ALS enroll in the registry, conduct outreach activities to identify ALS cases across the country, help establish an ALS biorepository that collects blood and tissue samples and enable the registry to advance clinical trials to develop new treatments for the disease. (alsphiladelphia.org)
  • Ultimately, this finding could guide future research efforts to identify specific genetic targets for prevention or treatment of osteosarcoma. (alexslemonade.org)
  • In this review, we introduce the distribution, structure, and functions of RNase T2, its differential roles in inflammation and cancer, and the perspective for its research and related applications in medicine. (frontiersin.org)
  • I have mainly investigated susceptibility to metals - arsenic, lead, cadmium and mercury - and my research has taken me to different parts of the world. (lu.se)
  • To understand the pathophysiology of immunologic and nonimmuno- allergic disease to those who research, treat, or manage allergic disease. (cdc.gov)
  • Areas of research and development to ensure that PT/EQA programs can meet the needs of new and evolving genetic tests and technologies are identified and discussed. (cdc.gov)
  • We further focused on the susceptibility of asthmatic children to ambient air pollution, an unavoidable environmental exposure of the modern world. (rug.nl)
  • There is no longer an increased occurrence of ALS in Guam and the cause of the increase, whether genetic or environmental, is still being investigated and many theories have been published over the years. (alsphiladelphia.org)
  • In general, environmental studies are carried out in certain geographic areas with the goal to establish programs that prevent and control the development and spread of disease and injury. (alsphiladelphia.org)
  • Like compounds from biological sources and low-molecular-weight nonoccupational asthma, occupational asthma is probably the chemicals cause occupational asthma after a latent period of result of multiple genetic, environmental, and behavioral exposure. (cdc.gov)
  • In a family where both parents are carriers and do not have the disease, roughly a quarter of their children will inherit two disease-causing alleles and have the disease. (genome.gov)
  • We found that while bacterial alpha diversity did not differ between the two clusters, MHC alleles/supertypes and genetic diversity varied considerably depending on geography and evolutionary history. (lu.se)
  • This indicates that the clinical experience with these drugs parallels the disease association of rs1800693, and that the MS-associated TNFR1 variant mimics the effect of TNF-blocking drugs. (researchgate.net)
  • Genetic mapping has proved to be effective in disease-risk prediction. (livemint.com)