SNPsGeneLociGenesType 2 diabetGeneticsPopulationsPathogenesisVariantsAlleleIndividual susceptibility2018PredispositionPatientsPeriodontalVitamin D receptAllelesCorrelationInflammatory2019PromoterPrevalenceMajor determinantInfectious DiseasesPlasmodiumSingleDeterminantGenotypesMetabolicInfectionInvestigateInterleukinMultifactorialOnsetSeverityDiabetesLungMTHFRStudiesDisordersCancersCaucasianGenome-wideGenomicPolymeraseProteinEthnicityChronicIsoformsMolecularRoleHumanAnnalsLocusPolygenicCardiovascularEsophagealVariationMutations
SNPs17
- BACKGROUND: The role of single nucleotide polymorphisms (SNPs) in TP53 in the pathogenesis of glioma is still debated. (minervamedica.it)
- The focus is on various techniques for identifying the various Single Nucleotide Polymorphisms (SNPs). (routledge.com)
- Polymorphism studies document the affect SNPs, and their expressions have upon the functionality of the enzymes, proteins. (routledge.com)
- We want to investigate whether the single nucleotide polymorphisms (SNPs) of the Ang2 gene can predict the risk of rheumatoid arthritis (RA). (medsci.org)
- Single nucleotide polymorphisms (SNPs) denote the single nucleotide variations occurring at specific sites in the genome with substantial frequency within the population [ 1 , 9 , 10 ]. (medsci.org)
- Conclusions Even though these results need to be replicated in a novel population, the presence of five SNPs in the TLR4 gene having association with chronic otitis media with effusion in our study population lends evidence for the possible role of this gene in the susceptibility to otitis media. (elsevierpure.com)
- Dr. Allenspach has recently identified genetic markers known as SNPs (single nucleotide polymorphisms) which she believes contribute to disease susceptibility. (pwdfoundation.org)
- In this study, 74 single nucleotide polymorphisms (SNPs) were identified. (nih.gov)
- Six phenotypes were observed as a result of two single nucleotide polymorphisms (SNPs) at amino acid positions 112 and 158. (dovepress.com)
- Recently, there has been a real effort to prove the role of single nucleotide polymorphisms (SNPs) in breast cancer risks [3, 4, 5]. (waocp.com)
- Single-nucleotide polymorphisms (SNPs) can alter gene function and protein expression. (geneticsmr.com)
- The $45-million project will identify and analyse single nucleotide polymorphisms (SNPs). (newscientist.com)
- SNPs are thought to be a major determinant of people's susceptibility to disease and their response to drugs. (newscientist.com)
- We examined the seven newly identified susceptibility SNPs for interactions with body mass index, smoking status, and report of weekly heartburn or reflux. (who.int)
- Single nucleotide polymorphisms (SNPs) associated with decline in lung function in firefighters. (cdc.gov)
- The samples were genotyped for 7 SNPs from genes thought to be involved in chronic obstructive pulmonary disease (COPD) or asthma, based on prior studies. (cdc.gov)
- We ing practice, different workload, and the use of personal are monitoring single nucleotide polymorphisms (SNPs) protection devices. (cdc.gov)
Gene42
- We recruited 405 patients with interstitial lung diseases (ILD), including 165 IPF patients and 2043 healthy controls, for genotyping the MUC5B gene in the Chinese population. (nih.gov)
- The insensitivity to androgens is therefore clinically significant only when it occurs in genetic males, (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). (wikipedia.org)
- A recent study suggested that the A allele of the 3′UTR biallelic polymorphism in the LBP-1c / CP2 / LSF gene was associated with reduced AD risk. (bmj.com)
- CONCLUSIONS Our data support LBP-1c / CP2 / LSF as a candidate gene/risk factor for AD and provide justification for future studies to investigate the role of this gene in Alzheimer's disease. (bmj.com)
- In a previous study Lambert et al 3 sequenced the transcription factor LBP-1c / CP2 / LSF gene, which lies within the chromosome 12 AD locus, in order to identify any genetic variants that may modify the risk of developing AD. (bmj.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)
- The Angiopoietin-2 (Ang2) gene encodes angiogenic factor, and the polymorphisms of Ang2 gene predict risk of various human diseases. (medsci.org)
- The present study is aimed at exploring whether rs3213172, rs3213173, and rs3213176 polymorphisms of the E2F1 gene confer risk for ovarian cancer. (hindawi.com)
- The rs3213172, rs3213173, and rs3213176 polymorphisms of the E2F1 gene were detected by the fluorescent probe method. (hindawi.com)
- E2F1 gene rs3213173 and rs3213176 polymorphisms confer no risk to ovarian cancer risk. (hindawi.com)
- The CT genotype of E2F1 gene rs3213172 polymorphism is associated with an increased risk of ovarian cancer, and E2F1 gene rs3213172 polymorphism may be a novel marker for the risk prediction of ovarian cancer. (hindawi.com)
- The present study is to explore whether E2F1 gene polymorphisms confer risk for ovarian cancer. (hindawi.com)
- Polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis of the ribosomal RNA gene internal transcribed spacer-1 (ITS1) was used. (who.int)
- Thomas, Bolaji N. "Genetic Diversity of CD14 Promoter Gene Polymorphism (rs2569190) is Associated With Regulation of Malaria Parasitemia and Susceptibility to Plasmodium falciparum Infection. (rit.edu)
- Endothelin-1 but not Endothelial Nitric Oxide Synthase Gene Polymorphism is Associated with Sickle Cell Disease in Africa. (rit.edu)
- Genomic Polymorphism of CD209 Gene is Associated with Sickle Cell Disease in African Children. (rit.edu)
- Novel Intron 2 Polymorphism in the Melanophilin Gene is in Hardy-Weinberg Equilibrium and not Associated with Coat Color. (rit.edu)
- Identification of Single Nucleotide Polymorphisms in the Agouti Signaling Protein (ASIP) Gene in Some Goat Breeds in Tropical and Temperate Climates. (rit.edu)
- The objective of the current study was to develop a tag-single nucleotide polymorphism (SNP) panel to determine if there is an association between candidate gene polymorphisms and the development of chronic otitis media with effusion. (elsevierpure.com)
- five of these polymorphisms were in the TLR4 gene. (elsevierpure.com)
- Recent studies suggest that ACE2 gene polymorphisms might be candidates for genetic susceptibility of SARS-CoV-2 infection. (researchsquare.com)
- Results In our study we confirmed that there is a statistically significant increased risk of a more severe disease course of SARS-CoV-2 infection associated with the need for hospitalization in the intensive care unit for patients with specific polymorphisms of the ACE2 gene. (researchsquare.com)
- Most, but not all, people with celiac disease have a gene variant. (vitamindwiki.com)
- Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. (nih.gov)
- The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. (nih.gov)
- Effect of the Concentration Levels of Growth Hormone and Insulin-like Growth Factor I on the Polymorphisms of the Il12p40 Gene in Lung Cancer Patients. (nih.gov)
- Genetic samples were obtained from several ongoing studies, including many funded by NIA: the Health and Retirement Study, the Age, Gene/Environment Susceptibility Reykjavic Study, and the SardiNIA Study of Aging, as well as dozens of other cohorts. (nih.gov)
- Correlation between growth differentiation factor 5 (rs143383) gene polymorphism and knee osteoarthritis: an updated systematic review and meta-analysis. (cdc.gov)
- Furthermore, several genetic variants in the VDR gene including the VDR FokI (rs10735810) polymorphism have been implicated in T1D susceptibility in some Caucasian populations. (nih.gov)
- Aim of the present study was to investigate the possible functional role of the VDR FokI gene polymorphism in Th cells from T1D patients and healthy controls (HC). (nih.gov)
- Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
- Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
- Association of the ANTXR2 gene polymorphism and ankylosing spondylitis in Chinese Han. (cdc.gov)
- The aim of this meta-analysis was to discover the effect of dominant and recessive genetic models of LSP1 gene rs3817198 polymorphism on breast cancer risk. (waocp.com)
- According to our findings, it seems that LSP1 gene rs3817198 polymorphism is associated with breast cancer risk and this risk is more prominent in Caucasians. (waocp.com)
- LSP1 gene rs3817198T>C polymorphism has been studied in many kinds of literature. (waocp.com)
- In this study, we investigated the role of the Leu53Leu, Arg213Gly, and Ala40Thr polymorphisms in extracellular superoxide dismutase (EC-SOD) gene in the development of T2DM in a Chinese population. (geneticsmr.com)
- Association between -174G/C and -572G/C interleukin 6 gene polymorphisms and severe radiographic damage to the hands of Mexican patients with rheumatoid arthritis: a preliminary report. (geneticsmr.com)
- Several interleukin 6 gene (IL6) polymorphisms are implicated in susceptibility to rheumatoid arthritis (RA). (geneticsmr.com)
- The aim of this paper was to analyze the presence of polymorphism in the promoter region T/C950 of the osteoprotegerin gene and its distribution in diabetic patients with periodontitis, when compared to the control group. (bvsalud.org)
- The relationship between VDR gene polymorphisms and onset pattern of diabetes was not significant. (who.int)
- immune destruction of insulin-pro- vestigate the relationship of VDR gene ducing beta cells by T-cell infiltration polymorphism to the risk of type 1 DM DNA isolation and PCR experiments of the pancreatic islets [1]. (who.int)
Loci9
- Thus, we selected three widely-studied polymorphism loci (rs3213172, rs3213173, and rs3213176) to find a novel marker for the risk prediction of ovarian cancer. (hindawi.com)
- In this setting, a crescent focus has been placed on the identification of genes, associated genetic polymorphisms, and multiple susceptibility loci. (scielo.br)
- En ese sentido, existe un creciente enfoque en la identificación de genes, polimorfismos genéticos asociados y loci de susceptibilidad múltiples. (scielo.br)
- These loci are also associated with other areas that correlate with increased cognitive performance and intracranial volume, decreased levels of emotional instability (neuroticism) and decreased risk of Alzheimer's disease. (nih.gov)
- With that information and a DNA sample, investigators can conduct additional GWAS of other racial and ethnic groups, which could allow identification of new variants and genetic pathways associated with educational attainment and further validate the contribution of loci from the study reported today. (nih.gov)
- 2018). Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. (harvard.edu)
- Genome-wide association studies have identified more than 100 genetic loci for SLE susceptibility across populations, with most of the genetic risk shared across borders and ethnicities. (medscape.com)
- Whether these genetic susceptibility loci modify previously identified exposure-disease associations is unclear. (who.int)
- 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)
Genes7
- 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)
- This review highlights the genes and genetic polymorphisms currently studied, identified as influential in the genesis of IS, such as MMP-3, IL-6, type I collagen, and vitamin D and estrogen receptors. (scielo.br)
- La presente revisión destaca los genes y polimorfismos genéticos actualmente estudiados, identificados como influyentes en la génesis de la EI, como los genes MMP-3, IL-6, colágeno tipo 1 y receptores de vitamina D y de estrógeno. (scielo.br)
- Genetic Polymorphism of Plasmodium Falciparum Merozoite Surface Protein-1 and 2 and Diversity of Drug Resistance Genes in Blood Donors from Bamako, Mali. (rit.edu)
- 2018). Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. (harvard.edu)
- Indeed, in some cases, HLA genes are more highly related to lupus-associated autoantibodies than to the disease itself. (medscape.com)
- A genome-wide study in a northern European population replicated the association of SLE with susceptibility genes related to B-cell receptor pathway signaling, as well as confirmed the association of SLE with genes at the interferon regulatory factor 5 (IRF5)-TNPO3 locus. (medscape.com)
Type 2 diabet3
- 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)
- Genetic polymorphisms in extracellular superoxide dismutase Leu53Leu, Arg213Gly, and Ala40Thr and susceptibility to type 2 diabetes mellitus. (geneticsmr.com)
Genetics4
- We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension (Family Blood Pressure Program). (blogspot.com)
- This is an interesting development in behavior genetics," said NIA Director Richard J. Hodes, M.D. "It extends our understanding of the connection between the genetic components of cognition and years of formal education. (nih.gov)
- Wonil Chung, Omer Weissbrod and Margaux Hujoel were awarded as semifinalists for the Charles J. Epstein Trainee Award for Excellence in Human Genetic Research for the 2018 American Society of Human Genetics Conference in San Diego, California this October. (harvard.edu)
- Preeclampsia is a common disease unique to pregnant women, and its development involves many genetics l factors. (geneticsmr.com)
Populations5
- 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)
- Following a review of the distribution of variability in toxicokinetic and toxicodynamic parameters for populations of different ages, genders and disease states, ECETOC concluded that human data (Renwick and Lazarus (1998) Reg. (europa.eu)
- Her research interests include stress-induced noncommunicable disease prevention among at-risk refugee and immigrant populations and the chronic effects of war and military occupation on public health. (washington.edu)
- Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations. (cdc.gov)
- Association between GDF5 +104T/C polymorphism and knee osteoarthritis in Caucasian and Asian populations: a meta-analysis based on case-control studies. (cdc.gov)
Pathogenesis1
- A complex role of anthrax toxin receptor 2 polymorphisms and capillary morphogenesis protein 2 in ankylosing spondylitis pathogenesis. (cdc.gov)
Variants4
- A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand. (cdc.gov)
- On 09/13/17, NIH grant R01 MH101244 "Rare and common variants in complex disease" (4 PIs: Sunyaev/Price/Kraft/Neale) was awarded to Alkes Price as a subcontract with BWH (Shamil Sunyaev)/NIMH. (harvard.edu)
- However, the association between genetic variants of AKT1 and the risk of developing prostate cancer has not been investigated before. (geneticsmr.com)
- These results suggest that IL-1a 3953, TNF- -238 and -308, and IL-1RA 2018 variants may influence individual susceptibility for accelerated decline in lung function in firefighters. (cdc.gov)
Allele3
- Our results indicated that the prevalence of the minor allele (T) of the polymorphism rs35705950 in healthy Chinese subjects was approximately 0.66%, which was lower than that described in the Caucasian population. (nih.gov)
- They found that the A allele of a G/A polymorphism located in the 3′UTR was associated with sporadic AD in samples diagnosed predominantly by clinical, rather than pathological, criteria. (bmj.com)
- The A allele over rs11137037 was associated with longer duration between disease onset and blood sampling ( p = 0.003). (medsci.org)
Individual susceptibility1
- Although acceptable been studied in many biomonitoring studies as putative exposure limits have been fixed for the working envi- biomarkers of individual susceptibility to cancer (and ronment, it has become clear that various factors can possibly other diseases), measured alongside markers of affect exposure, including additional skin absorption, exposure and effect. (cdc.gov)
20182
- 2018). Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. (harvard.edu)
- 2018) Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. (harvard.edu)
Predisposition1
- Objectives/Hypothesis The genetic factors leading to a predisposition to otitis media are not well understood. (elsevierpure.com)
Patients22
- One hundred three patients with pneumonia and 360 patients with autoimmune diseases (ADs) were recruited as disease controls. (nih.gov)
- Meningococcal disease has a case-fatality rate of 50% for patients not given treatment and 10%-20% for those given treatment ( 1 , 2 ). (cdc.gov)
- Despite the recent advent of biological agents enabling some RA patients to achieve disease remission with minimal symptoms, a marked proportion of patients remain treatment-refractory and suffer from progressive joint destruction, functional deterioration or even premature mortality [ 3 - 5 ]. (medsci.org)
- The aetiology of autoimmune hepatitis (AIH) is uncertain but the disease can be triggered in susceptible patients by external factors such as viruses or drugs. (wjgnet.com)
- Pour identifier les espèces de Leishmania, des techniques moléculaires ont été appliquées sur des échantillons prélevés chez 64 patients atteints de leishmaniose cutanée orientés vers l'hôpital régional d'Herat en 2013. (who.int)
- Bringing the blood level of vitamin D back to normal in patients with celiac disease decreases symptoms. (vitamindwiki.com)
- Clinical diagnosis of dengue and identification of which patients are likely to develop severe disease remain challenging. (fiocruz.br)
- This study aims to improve diagnosis and clinical management through approaches designed a) to differentiate between dengue and other common febrile illness within 72 h of fever onset, and b) among patients with dengue to identify markers that are predictive of the likelihood of evolving to a more severe disease course. (fiocruz.br)
- Patients presenting within 72 h of fever onset who do not exhibit signs of severe disease are eligible for the study. (fiocruz.br)
- Additionally, among patients with confirmed dengue we aim to identify simple clinical and laboratory parameters associated with progression to a more severe disease course. (fiocruz.br)
- Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. (scirp.org)
- Entire organizations were set up to study not only the disease as it affected individual patients, but its impact on the society as a whole. (encyclopedia.com)
- Many elderly patients developed the infection some years ago when the disease was more widespread. (encyclopedia.com)
- Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis. (cdc.gov)
- It has not yet been established with certainty if these polymorphisms are associated with the severe radiographic damage observed in some RA patients, particularly those with the development of joint bone ankylosis (JBA). (geneticsmr.com)
- THE era of personalised medicine, when patients will be prescribed drugs tailored to their precise genetic make-up, has come a step closer. (newscientist.com)
- Collection of large (several thousand strong) cohorts of SLE patients and their family members has allowed genome-wide association studies to proceed in this disease. (medscape.com)
- In this update, the author discusses advancements in the epidemiology, diagnosis, treatment, and prognosis of patients with arterial ischemic stroke and cerebral venous thrombosis associated with genetic and acquired thrombophilia, including the antiphospholipid antibody syndrome. (medlink.com)
- No influence was found between genetic polymorphisms of osteoprotegerin in patients with diabetes and periodontitis. (bvsalud.org)
- fluid were collected for antimicrobial susceptibility testing and After the increase in summer 2021, no evidence of higher lev- whole-genome sequencing at CDC's Streptococcus reference els of intensive care unit (ICU) admission, mortality, genetic laboratory to identify microbiological features shared among relatedness of isolates from different patients, or increased cases. (cdc.gov)
- The prevalence of VDR polymorphisms in 4 restriction fragment length polymorphism sites including Bsm I, Fok I, Apa I and Taq I were analysed in patients and controls. (who.int)
- Un groupe de 69 patients atteints de diabète de type 1 et 45 témoins en bonne santé sans lien entre eux ont été recrutés pour cette étude. (who.int)
Periodontal3
- Oral and periodontal diseases can determine severe functional, phonatory and aesthetic impairments and are the main cause of adult tooth loss. (mdpi.com)
- A number of studies that have been carried out believe that diabetes has a big influence on the onset and progression of periodontal disease which, in turn, also influences glycemic control and that there exists, therefore, a bidirectional relationship between the two diseases in which diabetes predisposes the establishment of periodontal disease and the latter has a negative influence on the metabolic control of diabetes 1-2 . (bvsalud.org)
- The prevalence and severity of periodontal disease in diabetics has been shown to be greater than that of the population as a whole 3-4 , where the effects of periodontal disease in these individuals are aggravated by metabolic and histopathological changes, characteristics of diabetes, as well as vascular changes, defective immunological responses and a delayed process of healing 1,5-7 . (bvsalud.org)
Vitamin D recept1
- ABSTRACT Reported associations between vitamin D receptor (VDR) polymorphism and type 1 diabetes mellitus vary across ethnic groups. (who.int)
Alleles1
- AIH usually develops in individuals with a genetic background mainly consisting of some risk alleles of the major histocompatibility complex (HLA). (wjgnet.com)
Correlation1
- Distinguishing genetic correlation from causation across 52 diseases and complex traits. (harvard.edu)
Inflammatory6
- Summary: Researchers are looking at changes in gut bacteria that stimulate the immune system in dogs with inflammatory bowel disease to help identify novel ways to diagnose and treat this disease. (pwdfoundation.org)
- Description: Inflammatory bowel disease (IBD) is a common disease of dogs, causing vomiting, diarrhea and weight loss. (pwdfoundation.org)
- Researchers will assess and track certain bacteria, known to interact directly with the gut immune system, in stool samples of dogs with inflammatory bowel disease. (pwdfoundation.org)
- Inflammatory Bowel Disease (IBD) is a group of disorders in which the intestinal tract has become invaded with the dog's own white blood cells leading to inflammation. (pwdfoundation.org)
- The information will help veterinarians to better diagnose gastrointestinal diseases, including bloat, gastritis and inflammatory bowel disease, while dogs are in their home environment. (pwdfoundation.org)
- Inflammatory bowel disease (IBD) occurs relatively frequently in dogs and can cause vomiting, diarrhea, anorexia and weight loss. (pwdfoundation.org)
20192
- See also the 2019 American Association for the Study of Liver Disease's practice guidelines for Alcohol-Associated Liver Disease . (merckmanuals.com)
- The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) first emerged in Hubei province of China in December 2019 and spread rapidly to other parts of the world, causing the coronavirus disease 2019 (COVID-19). (researchsquare.com)
Promoter1
- Polymorphisms of osteoprotegerin were found in promoter region -950T/C but there was no significance (p=1.000). (bvsalud.org)
Prevalence1
- The prevalence of celiac disease, not just its diagnosis, has increased 4X in the past 30 years, similar to the increase in Vitamin D deficiency. (vitamindwiki.com)
Major determinant1
- Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ethnicity-as opposed to current residence-is the major determinant of genetic structure in the U.S. population. (blogspot.com)
Infectious Diseases1
- Infectious Diseases: Research and Treatment 6. (rit.edu)
Plasmodium4
- Genetic Diversity and Allelic Frequency of Glutamate-Rich Protein (GLURP) in Plasmodium Falciparum Isolates from Sub-Saharan Africa. (rit.edu)
- Susceptibility of Ugandan Plasmodium falciparum Isolates to the Antimalarial Drug Pipeline. (umassmed.edu)
- Susceptibilities of Ugandan Plasmodium falciparum Isolates to Proteasome Inhibitors. (umassmed.edu)
- Decreased Susceptibility to Dihydrofolate Reductase Inhibitors Associated With Genetic Polymorphisms in Ugandan Plasmodium falciparum Isolates. (umassmed.edu)
Single6
- Another germline deletion ( TGFBR1*6A ) and somatic mutations in the TGFBR1 were also analyzed by PCR and single-strand conformational polymorphism. (aacrjournals.org)
- Interleukin 12B rs3212227 and rs6887695 single nucleotide polymorphisms are associated with the susceptibility to preeclampsia: Genetic, haplotype and bioinformatics analysis. (nih.gov)
- Association between single nucleotide polymorphisms in AKT1 and the risk of prostate cancer in the Chinese Han population. (geneticsmr.com)
- These are variations in single DNA bases, which account for most of the genetic differences between people. (newscientist.com)
- In these studies, upwards of a million single-nucleotide polymorphisms are typed in each individual. (medscape.com)
- Recently, genome-wide association studies have identified seven germline single-nucleotide polymorphisms (SNP) that are associated with risk of Barrett's esophagus and esophageal adenocarcinoma. (who.int)
Determinant1
- Several studies show evidence that the genetic component is determinant to the development of IS. (scielo.br)
Genotypes1
- Post-PCR genomic DNA sequencing revealed MTHFR C677T and MTHFR A1298C genotypes and TS polymorphisms. (medscimonit.com)
Metabolic1
- However the population exposed in the workplace is highly homogeneous and the health of the work force is typically good (healthy worker effect) while metabolic differences due to genetic polymorphisms do not automatically require an increased assessment factor since compensating mechanisms (including alternative pathways of elimination) are often present (ECETOC, 2003, 2010). (europa.eu)
Infection2
- Tuberculosis (TB) is a potentially fatal contagious disease that can affect almost any part of the body but is mainly an infection of the lungs. (encyclopedia.com)
- Concurrent COVID-19 diagnosis was defined as past year and the possible contributing role of SARS-CoV-2 having International Classification of Diseases, Tenth Revision infection ( 1 ). (cdc.gov)
Investigate3
- To investigate whether genetic polymorphisms of glutathione S-transferases ( GSTM1 , GSTT1 , and GSTO2 ) in relation to the work place contribute to the development of cataract. (molvis.org)
- We will also investigate early virological and serological correlates of severe disease, and examine genetic associations in this large heterogeneous cohort. (fiocruz.br)
- The DNA to investigate the polymorphisms of osteoprotegerin, obtained through the technique of polymerase chain reaction, was obtained from the blood serum of the participants. (bvsalud.org)
Interleukin1
- Association between interleukin-4 polymorphisms and risk of pre-eclampsia in a population of Chinese pregnant women. (geneticsmr.com)
Multifactorial1
- 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)
Onset3
- OBJECTIVES The only locus unequivocally associated with late onset Alzheimer's disease (AD) risk is APOE . (bmj.com)
- Although the pathological changes are similar at all ages of onset, AD is often divided into early and late onset disease using an arbitrary age at onset of 65 years. (bmj.com)
- Persons with dermatomyositis often present with skin disease as one of the initial manifestations, and it may be the sole manifestation at onset in perhaps as many as 40% of individuals with this condition. (medscape.com)
Severity4
- Circulating Immune Complex Levels are Associated with Disease Severity and Seasonality in Children with Malaria from Mali. (rit.edu)
- The aim of the study was to evaluate the influence of ACE2 polymorphisms on COVID-19 disease risk and severity. (researchsquare.com)
- Conclusions In conclusion, our findings identify that certain ACE2 polymorphisms impact the severity of COVID-19 disease independently of other well-known risk factors. (researchsquare.com)
- Effect of Inoculation of Plant Growth Promoting Rhizobacteria (PGPR) Mix I Formulations on Plant Growth, Yield, Disease Incidence and Disease Severity of Rhizoctonia Leaf Blight of Amaranthus ( Amaranthus tricolor L. (arccjournals.com)
Diabetes3
- Some systemic diseases, such as uncontrolled diabetes, can increase their risk of development and progression. (mdpi.com)
- Type 1 diabetes (T1D) is an autoimmune disease mediated by T-helper (Th) cells. (nih.gov)
- Leptin (rs7799039) and solute carrier family 30 zinc transporter (rs13266634) polymorphisms in Euro-Brazilian pregnant women with gestational diabetes. (geneticsmr.com)
Lung4
- Genetic polymorphisms and susceptibility to lung disease. (cdc.gov)
- Our study objectives were to assess the evidence for genetic involvement in the rate of lung function decline in a population of firefighters. (cdc.gov)
- Future studies in firefighters have been proposed to evaluate the interaction between exposure to products of combustion and genetic polymorphisms in relation to decline in lung function. (cdc.gov)
- Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk. (medlineplus.gov)
MTHFR1
- This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. (medscimonit.com)
Studies10
- So far, the studies which explore the relationship between the E2F1 polymorphisms and ovarian cancer susceptibility are rare. (hindawi.com)
- Implications of this genetic structure for case-control association studies are discussed. (blogspot.com)
- In this regard, comprehensive studies of the impact of amino acid variation on protein PTMs will be helpful for further understanding of how genetic polymorphisms are involved in regulating biological and pathological processes and providing instructive information for drug development of various related diseases. (deepdyve.com)
- Funded by the NIA, the SSGAC is a cooperative enterprise among biomedical researchers and social scientists that coordinates genetic association studies for social science outcomes and provides a platform for interdisciplinary collaboration. (nih.gov)
- Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system. (cdc.gov)
- Subgroup analysis displayed a significant association in population-based studies and European & American and African population only in the dominant genetic model. (waocp.com)
- Ion channel polymorphisms may cause differential sensitivities to Cd2+ and Pb2+, explaining in part prospective blinded studies showing high Cd2+ in varicocele-related human infertility and high Pb2+ in unexplained infertility. (cdc.gov)
- Our results differ from previous polymorphism studies in other regions. (who.int)
- When reported in host susceptibility - the intrinsic and that are not strongly associated with epidemiological studies, these tu- extrinsic factors that have an impact host susceptibility include the follow- mour sites are also noted in some on variable response to carcinogens: ing. (who.int)
- There are various limitations in susceptibility, how host susceptibility ies may focus only on specific tumour epidemiological studies (e.g. statis- factors may modulate the impact of outcomes or may not be designed to tical power, exposure assessment, mechanistic events leading to tumour detect some types of tumours). (who.int)
Disorders1
- Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. (routledge.com)
Cancers1
- The amino acid variation S326C of human OGG1 disrupts Ser-326 phosphorylation site and affects susceptibility to a variety of cancers [9]. (deepdyve.com)
Caucasian1
Genome-wide1
- In order to find all underlying genetic factors that could contribute to disease, they propose to perform a genome-wide association study. (pwdfoundation.org)
Genomic2
- Direct genomic sequencing of TP53 was performed to detect the presence of polymorphisms. (minervamedica.it)
- ii) quan- genetic factors together can influence genomic stability. (cdc.gov)
Polymerase1
- Reverse transcriptase-polymerase chain reaction assays for Ca2+ and K+ channel isoforms may identify susceptibility subgroups with lower resistance to environmental exposures. (cdc.gov)
Protein1
- 7] analyzed amino acid variations of 15 different PTMs and indicated that about 4.5% of amino acid variations may affect protein function through disruption of PTMs, and the mutation of 238 PTMs sites in human proteins was causative of disease. (deepdyve.com)
Ethnicity4
- As TCE toxicity and carcinogenicity are generally associated with TCE metabolism, susceptibility to TCE health effects might be modulated by factors affecting toxicokinetics, including lifestage, gender, genetic polymorphisms, race/ethnicity, preexisting health status, lifestyle, and nutrition status. (cdc.gov)
- Genetic cluster analysis of the microsatellite markers produced four major clusters, which showed near-perfect correspondence with the four self-reported race/ethnicity categories. (blogspot.com)
- Of 3,636 subjects of varying race/ethnicity, only 5 (0.14%) showed genetic cluster membership different from their self-identified race/ethnicity. (blogspot.com)
- On the other hand, we detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. (blogspot.com)
Chronic3
- Results indicated that conditions of social vulnerability, such as low income and overcrowding, as well as familial history of this disease and clinical histories, especially chronic diseases and hospitalization for respiratory conditions, increased the probability of illness. (cdc.gov)
- Objective: Migraine, a common chronic neurological disorder involves a pathophysiology having both multiple genetic and environmental factors. (scirp.org)
- Although host susceptibility stress, (6) induces chronic inflam- benzene) that induce not only muta- factors have a modulating role in mation, (7) is immunosuppressive, tions but also a variety of epigenetic carcinogenesis and can affect un- (8) modulates receptor-mediated changes. (who.int)
Isoforms1
- 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)
Molecular2
- Because educational attainment is a complex phenomenon, there are many additional sources of molecular genetic variation to be discovered. (nih.gov)
- Further, these results reveal the feasibility of developing a simple, field deployable molecular diagnostic based on mycobacterial lipid antigen-specific TCR sequences that are readily detectable in human tissues and blood independent of genetic background. (bvsalud.org)
Role4
- In this study we have typed for the 3′UTR polymorphism in a series of necropsy confirmed AD cases and age matched non-demented controls to see if we could confirm an association between this polymorphism and sporadic AD, and thus give further support for the role of this genetic variant as a risk factor in AD. (bmj.com)
- A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility. (cdc.gov)
- Role of IL17A rs2275913 and rs3748067 polymorphisms in the risk cervical cancer. (geneticsmr.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)
Human4
- Although some of these factors are known risk factors for effects associated with TCE exposure, but how TCE interacts with known risk factors for human diseases is not known. (cdc.gov)
- There are no data to quantify variability in susceptibility to the effects of exposure to 3a,4,7,7a-tetrahydro-4,7-methanoindene in the human population. (europa.eu)
- The ongoing Human Genome Project, which aims to have a working draft of our entire genetic blueprint by February next year, will produce a "consensus" sequence for the typical human. (newscientist.com)
- The major histocompatibility complex (MHC) on chromosome 6, which contains the human lymphocyte antigens (HLA), was the first described genetic link to SLE. (medscape.com)
Annals2
Locus2
- However, this locus accounts for less than half the genetic variance. (bmj.com)
- Despite these significant findings, it is important to note that imputed data for the HLA locus may pose challenges due to high level of linkage disequilibrium and polymorphism. (who.int)
Polygenic1
Cardiovascular1
- Targeting APOE may be a potential approach for diagnosis, risk assessment, prevention, and treatment of various neurodegenerative and cardiovascular diseases in humans. (dovepress.com)
Esophageal1
- BACKGROUND: Important risk factors for esophageal adenocarcinoma and its precursor, Barrett's esophagus, include gastroesophageal reflux disease, obesity, and cigarette smoking. (who.int)
Variation3
- Previous research has shown that genetic factors account for about 20 percent of variation in educational attainment. (nih.gov)
- However, further research is needed to confirm these premilinary findings and to elucidate functional mechanisms of genetic variation in the vitamin D system. (nih.gov)
- Competing causes of mortali- or all of the animal species tested genetic variation, health status, life ty may prevent the development of experimentally. (who.int)
Mutations2
- There are a number of cases in which mutations of the modified sites were found to be involved in disease. (deepdyve.com)
- Although SLE is generally a complex genetic illness, there are several examples of mutations that can produce a monogenetic form of the illness. (medscape.com)