Susceptibility gene disease susceptibility. Medical search. Frequent questions

BACKGROUND: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. (ox.ac.uk)
PRINCIPAL FINDINGS: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10-6) and 14 (IGHV1-67 p = 7.9×10-8) which indexed novel susceptibility loci. (ox.ac.uk)
Whole-genome linkage screens in MS have both confirmed the importance of the HLA region and uncovered non-HLA loci that may harbor susceptibility genes. (nih.gov)
Importantly, the data also indicate that genetic interactions among the multiple loci evaluated, rather than single-locus effects, are more likely to determine differences in the age of disease onset. (psu.edu)
The aim of this study was to perform a whole-genome linkage analysis for identification of other susceptibility loci for Behçet's disease in multicase families. (ox.ac.uk)
CONCLUSION: This study is the first systematic genome screen in Behçet's disease and provides evidence of linkage to several non-HLA susceptibility loci in a cohort of Turkish multicase families. (ox.ac.uk)
A 2017 study found 242 susceptibility loci - DNA sequence - for IBD. (medicalnewstoday.com)
and multiple risk loci for the diseases ( Kochi, 2016 ). (frontiersin.org)
We identified 3 strong asthma susceptibility loci, lmr1A, lmr1B and H2. (rug.nl)
Based upon the literature, in silico SNP analysis and expression profiling, we were able to identify candidate genes in 2 of these loci: Pla2g7 in lmr1A and Apobec-2 in lmr1B. (rug.nl)
We totally identified 141 pathogenic variant loci of 129 genes in these 34 pSS-PAH patients, using WES analysis. (biomedcentral.com)
Our findings provide preliminary data of exome sequencing to identify susceptibility loci for pSS-PAH and enriched our understanding of the genetic etiology for pSS-PAH. (biomedcentral.com)
Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. (lu.se)
Additionally, some abnormalities are found in gene loci antithrombin, protein C, and protein S. (medscape.com)

In this two-stage analysis, we determined genotypes, in up to 672 MS patients and 672 controls, for 123 single-nucleotide polymorphisms (SNPs) in 66 genes. (nih.gov)
Polymorphisms of MBL (rs7096206) and MASP-2 (rs2273346 and rs6695096) were associated with the susceptibility of TB, and there were gene-gene interactions among them. (biomedcentral.com)
Previous studies suggest that polymorphisms of MBL genes in the promoter region and structural region affect the formation of MBL multimer and serum MBL concentration. (biomedcentral.com)
This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. (medscimonit.com)
However, the relationship between polymorphisms in the WDR4 gene and susceptibility to Wilms tumor remains to be fully investigated. (jcancer.org)
We performed a large case-control study involving 414 patients and 1199 cancer-free controls to investigate whether single nucleotide polymorphisms (SNPs) in the WDR4 gene are associated with Wilms tumor susceptibility. (jcancer.org)
Interferon induced with helicase C domain 1 (IFIH1) single-nucleotide polymorphisms (SNP) rs1990760, rs3747517, and rs10930046 have been shown to be closely related to the risk of autoimmune diseases. (figshare.com)
Furthermore, the meta-analysis indicated that rs1990760 and rs3747517 polymorphisms, confer susceptibility to autoimmune diseases, especially in the Caucasian population. (figshare.com)
The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α ( TNF-α ) gene polymorphisms and coronary artery disease (CAD) susceptibility. (biomedcentral.com)
The aim of this study was to perform a meta-analysis of all available literature to obtain updated evidence about association between TNF-α polymorphisms and CAD susceptibility. (biomedcentral.com)
We sequenced all 48 exons of the Tg gene and identified 14 single-nucleotide polymorphisms (SNPs). (elsevierpure.com)
There is an association of polymorphisms of the calcium channel alpha1-subunit gene with thyrotoxic periodic paralysis. (medscape.com)
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 in low penetrance genes are responsible for the alterations in the gene expression of critical signal transduction proteins and metabolic enzymes. (routledge.com)
Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. (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 relationship between VDR gene polymorphisms and onset pattern of diabetes was not significant. (who.int)
Venous thromboembolism (VTE) is a multifactorial disease driven by environmental/acquired risk factors such as age, obesity, oral contraceptives, and immobility, as well as inherited risk factors such as genetic polymorphisms. (medscape.com)

[ 2 ] These genes are involved in a variety of biologic processes: Th2 inflammation, T-reg cell function, the HLA locus/immunity, and IgE response of B cells. (medscape.com)
The initial GWAS in asthma incorporated a unique approach by combining gene expression with genetic association to find ORMDL3 , a novel locus on chromosome 17q21. (medscape.com)
While the apolipoprotein E (APOE) e4 allele is a well-established risk factor for late-onset Alzheimer's disease (AD), initial genome scans using microsatellite markers in late-onset AD failed to identify this locus on chromosome 19. (psychiatrist.com)
This study provides empirical support for the suggestion that the APOE locus is the major susceptibility gene for late-onset AD in the human genome, with an OR significantly greater than any other locus in the human genome. (psychiatrist.com)
TNF-α 308G/A locus A showed no significant association with CAD susceptibility by the five models in the analysis of the overall population, European, African, South Asian, and North Asian patients. (biomedcentral.com)
TNF-α 863C/A locus A and 1031 T/C locus C exhibited no significant association with CAD susceptibility. (biomedcentral.com)
TNF-α 238G/A locus A had no significant association with CAD susceptibility in the overall population. (biomedcentral.com)
However, TNF-α 238G/A locus A showed significant association with higher CAD susceptibility in the subgroup of Europeans and north Asians. (biomedcentral.com)
TNF-α 857C/T locus T had no significant association with CAD susceptibility in the analysis of the overall population and Europeans. (biomedcentral.com)
In the north Asian population, TNF-α 857C/T locus T was associated with lower CAD susceptibility by the heterozygote model. (biomedcentral.com)
Recent studies of the nonobese diabetic mouse (NOD) model of IDDM have suggested the presence, on mouse chromosome 9, of a susceptibility gene linked to the locus encoding the T-cell antigen, Thy-1. (ox.ac.uk)
Theoretical estimates of the power to map susceptibility genes with a high-resolution map of linked markers in a candidate region were made, using HLA as a model locus. (ox.ac.uk)
The 8q24 locus, which contains the thyroglobulin (Tg) gene, was previously shown to be strongly linked with autoimmune thyroid disease (AITD). (elsevierpure.com)
For the H2 locus different candidate genes remain. (rug.nl)
However, the susceptibility locus for pSS-PAH remains unknown. (biomedcentral.com)

0.05) associated SNPs--conferred susceptibility to MS: LAG3 on chromosome 12p13, and IL7R on 5p13. (nih.gov)
An individualized genome-wide association study using 502,627 SNPs was performed in 1086 histopathologically verified AD cases and controls to determine the OR associated with genes predisposing to Alzheimer's disease. (psychiatrist.com)
In addition, unconditioned logistic regression analysis was performed, odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association between WDR4 gene SNPs and Wilms tumor susceptibility as well as the strength of the associations. (jcancer.org)
A combination of at least two Tg SNPs conferred susceptibility to human AITD. (elsevierpure.com)

Genetics plays an important role in determining the susceptibility of an individual to develop a disease. (wjgnet.com)

They will use iPSC‐derived neuronal cell lines to confirm the genes that are shown to confer susceptibility and the extent to which those genes play a role in individuals of varying genetic backgrounds. (health.mil)
Preliminary data suggest that all Shigella isolates with ciprofloxacin MICs in this range for which results are available harbor at least one quinolone resistance gene known to confer reduced susceptibility in enteric bacteria. (cdc.gov)

Lipoxygenase (LOX) activity has been implicated in neurodegenerative disorders such as Alzheimer's disease, but its effects in Parkinson's disease (PD) pathogenesis are less understood. (sri.com)
The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. (alzforum.org)
This provides a new insight in protein-degradation study as wellas Parkinson's Disease. (alzforum.org)
Parkinson's disease (PD) is a neurodegenerative disease that progresses over time as small clusters of dopamine‐producing brain cells deteriorate, causing motor issues such as tremors, loss of coordination, and difficulty speaking. (health.mil)
A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as Alzheimer's disease, stroke, migraine, multiple sclerosis, concussion, Parkinson's disease and epilepsy. (newswise.com)
Journal of Parkinson's Disease. (lu.se)

Secondly, to assess the association of SNP rs1990760, rs3747517, and rs10930046 with autoimmune diseases susceptibility. (figshare.com)
Stratification analyses based on ethnicity and the type of autoimmune diseases were performed. (figshare.com)
Stratified analysis indicated a significant association rs1990760 and rs3747517 with autoimmune diseases risk in the Caucasian population (OR=1.11, 95% CI: 1.02~1.20, OR=1.29, 95% CI: 1.18~1.41, respectively). (figshare.com)
Because Graves disease is an autoimmune disorder that also affects other organ systems, taking a careful patient history is essential to establishing the diagnosis. (medscape.com)
UC also shares a genetic architecture with multiple sclerosis , another autoimmune-mediated disease, according to a 2021 study . (medicalnewstoday.com)
Graves' disease (GD), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) are complex autoimmune diseases sharing common clinical, genetic and pathogenetic features. (frontiersin.org)
We conducted an integrative analysis of the multiple-autoimmune disease methylation dataset including GD, RA, SLE, and SSc samples, to identify the common methylation patterns of autoimmune diseases. (frontiersin.org)
We identified 15,289 differentially methylated sites between multiple-autoimmune disease patients and controls in CD4+ T cells. (frontiersin.org)
Autoimmune diseases are multifactorial complex diseases characterized by loss of immunologic tolerance to self-antigens, inappropriate activation of autoimmune responses and damage of target organ systems ( Wandstrat and Wakeland, 2001 ). (frontiersin.org)
Currently, over 100 types of autoimmune diseases affect 5-10% of the population worldwide and are one of the key causes of morbidity and mortality. (frontiersin.org)
Recently, multiple studies have suggested that there are a lot of commonalities in the pathogenesis of different types of autoimmune diseases. (frontiersin.org)
Therefore, the integrative analysis across different autoimmune diseases may reveal more clues about the pathogenesis. (frontiersin.org)
Graves' disease (GD), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) are all typical autoimmune diseases. (frontiersin.org)
Thus, research across these autoimmune diseases may reveal similarities in their pathogenesis. (frontiersin.org)
A number of environmental risk factors could wield influence over the pathogenesis of autoimmune diseases through epigenetic mechanisms ( Zhang and Zhang, 2015 ), which provide a crucial link between environmental and genetic risk factors of the diseases. (frontiersin.org)
These agents are indicated for autoimmune diseases. (medscape.com)
Primary Sjögren's syndrome (pSS) is an autoimmune connective tissue disease (CTD) characterized by exocrine gland dysfunction, resulting predominately in dryness of the mouth and eyes [ 1 ]. (biomedcentral.com)
This review summarizes and integrates research on vitamin D and CD4 + T-lymphocyte biology to develop new mechanistic insights into the molecular etiology of autoimmune disease. (frontiersin.org)
A deep understanding of molecular mechanisms relevant to gene-environment interactions is needed to deliver etiology-based autoimmune disease prevention and treatment strategies. (frontiersin.org)
Evidence linking sunlight, vitamin D, and the risk of multiple sclerosis and type 1 diabetes is summarized to develop the thesis that vitamin D is the environmental factor that most strongly influences autoimmune disease development. (frontiersin.org)
Evidence for CD4 + T-cell involvement in autoimmune disease pathogenesis and for paracrine calcitriol signaling to CD4 + T lymphocytes is summarized to support the thesis that calcitriol is sunlight's main protective signal transducer in autoimmune disease risk. (frontiersin.org)
Finally, unanswered questions and potentially informative future research directions are highlighted to speed delivery of etiology-based strategies to reduce autoimmune disease. (frontiersin.org)
The global burden has risen with the near tripling in the last half-century of multiple sclerosis (MS) ( 2 , 3 ), type 1 diabetes (T1D) ( 4 ), and other autoimmune diseases. (frontiersin.org)
This review highlights recent advances in vitamin D and T-lymphocyte biology in an effort to harness vitamin D's potential to reduce the impact of autoimmune diseases. (frontiersin.org)
Gene-environment interactions, sunlight and vitamin D, and T lymphocytes as autoimmune disease initiators and vitamin D targets are discussed to explain the rationale for reviewing vitamin D mechanisms in T cells. (frontiersin.org)
Finally, unanswered questions relating to vitamin D mechanisms in CD4 + T cells are highlighted to promote further research that may lead to a deeper understanding of autoimmune disease molecular etiology. (frontiersin.org)
Autoimmune diseases represent a failure of self-identification leading to an immune-mediated assault on host tissues. (frontiersin.org)
We drew mainly on MS and T1D research because intensive investigation has generated detailed insights into vitamin D mechanisms in these diseases and provided valuable guidance for research on other autoimmune diseases. (frontiersin.org)
Other autoimmune diseases are included where robust mechanistic data exist. (frontiersin.org)
A recent chapter ( 6 ) and a review ( 7 ) have summarized vitamin D mechanisms in autoimmune diseases more generally. (frontiersin.org)

A number of candidate dyslexia susceptibility genes have been identified, including DCDC2 and KIAA0319 on Chromosome (Chr) 6p22.2 and DYX1C1 on Chr 15q21. (nih.gov)
Current knowledge of chromosome 12 susceptibility genes for late-onset Alzheimer's disease. (unifg.it)
Worldwide genetic association studies pre-dating and subsequent to recent linkage studies have identified and focused upon a number of genes that map to the areas of reported linkage on chromosome 12, however, analyses of those genes studied to date, on the whole, remain inconclusive and ambiguous. (unifg.it)
This paper reviews studies that have provided evidence of linkage for AD on chromosome 12 and in turn discusses the work conducted to date on candidate genes that have been identified and map to the chromosome 12 regions of interest. (unifg.it)
Human TNF gene, located in the short arm of chromosome 6, is a 7 kb DNA sequence composed of TNFA and TNFB , encoding TNF-α and TNF-β, respectively, each containing 4 exons and 3 introns. (biomedcentral.com)
High-resolution linkage mapping for susceptibility genes in human polygenic disease: insulin-dependent diabetes mellitus and chromosome 11q. (ox.ac.uk)
We have used a set of polymorphic DNA markers from chromosome 11q to investigate this region for linkage to a susceptibility gene in 81 multiplex diabetic pedigrees. (ox.ac.uk)
We were able to exclude the presence of a susceptibility gene (location scores less than -2) throughout greater than 90% of the chromosome 11q homology region, under the assumption that the susceptibility factor would cause greater than 50% of affected sib pairs to share two alleles identical by descent. (ox.ac.uk)
We used recombinant congenic mouse strains to map asthma susceptibility genes on mouse chromosome 17. (rug.nl)

The team will use whole‐genome sequencing and bioinformatics to investigate the genetic variants involved in susceptibility to PD. (health.mil)
Multifactor dimensionality reduction indicated that the best genetic model for classical onset group versus controls involved the APCS gene, whereas for late-onset cases, one APCS variant (APCSv1) and two RBP variants (RBPv1 and RBPv2) are involved. (psu.edu)
In a preliminary study released today that will be presented at the American Academy of Neurology's 72nd Annual Meeting in Toronto, Canada, April 25 to May 1, 2020, researchers say that they have identified gene variants that are associated with a susceptibility to developing tau deposits in older age. (newswise.com)
The researchers found that people with certain gene variants on chromosomes 1 and 5 had a higher amount of tau in their brains than the people who had the more typical gene sequences in those regions. (newswise.com)
The gene variants were found in around 2 to 3% of the group, and those with the variants had about 10% higher tau levels than those without. (newswise.com)
These studies have identified variants in several genes that may contribute to obesity by increasing hunger and food intake. (cdc.gov)
Background and aims: Several susceptibility gene variants predisposing to nonalcoholic fatty liver disease (NAFLD) have been identified in chronic kidney disease (CKD). (lu.se)

Polymorphism of MBL and MASP-2 genes may affect the serum concentration of MBL and MASP-2. (biomedcentral.com)
This study explores the association between MBL and MASP-2 gene polymorphism and their interactions and the susceptibility to tuberculosis (TB). (biomedcentral.com)
T polymorphism of the WDR4 gene was significantly associated with Wilms tumor. (jcancer.org)
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)

We analyzed alleles of candidate genes encoding non-fibrillar components of TTR amyloid deposits and a molecule metabolically interacting with TTR [retinol-binding protein (RBP)], for possible associations with age of disease onset and/or susceptibility in a Portuguese population sample with the TTR V30M mutation and unrelated controls. (psu.edu)
These alleles collectively form a cluster known as the gene pool of a certain population. (livemint.com)
INTRODUCTION: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. (lu.se)
CONCLUSIONS: Differences in associations of common BC susceptibility alleles between BRCA1 and BRCA2 carriers and the general population are explained to a large extent by differences in the prevalence of ER-positive and ER-negative tumors. (lu.se)

First, the investigators will use induced pluripotent stem cell (iPSC) cell lines exposed to toxins such as paraquat and permethrin to determine whether glutathione S‐transferase theta-1 (GSTT1) deletion increases susceptibility. (health.mil)

Although the exact cause of disease onset is unknown, it is thought that a combination of genetic and environmental factors, as well as the interaction between them, are contributors. (health.mil)
n the last decade, it has become more apparent the important role genes play in the development of late-onset Alzheimer's disease (AD). (unifg.it)
Thus, although the TTR V30M mutation is required for the disease in Portuguese patients, different genetic factors may govern the age of onset, as well as the occurrence of anticipation. (psu.edu)
1 The onset of asthma is often preceded by allergic disease (eczema or hay fever) and a positive result of skin tests with allergens (atopy). (bmj.com)
Experts associated 50 of these with very early onset inflammatory disease. (medicalnewstoday.com)
Multiple sclerosis and T1D have distinct target organs, genetic risk factors, onset ages, and female to male ratios, but target organ-specific T cells as initiators unite these diseases. (frontiersin.org)
These different genes produce pheochromocytomas with different ages of onset, secretory profiles, locations, and potential for malignancy. (medscape.com)

The natural antimicrobial defensin DEFA5 and DEFA6 genes were particularly over-expressed in CD. (johnshopkins.edu)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
Clinicians treating patients with multidrug-resistant shigellosis for whom antibiotic treatment is indicated should avoid prescribing fluoroquinolones if the ciprofloxacin MIC is 0.12 μg/mL or higher even if the laboratory report identifies the isolate as susceptible, and should work closely with their clinical microbiology laboratory and infectious disease specialists to determine appropriate antimicrobial therapy. (cdc.gov)
Fluoroquinolone resistance is of particular concern given that data from the National Antimicrobial Resistance Monitoring System indicate that many Shigella isolates with a quinolone resistance gene also are resistant to many other commonly used treatment agents, such as azithromycin, trimethoprim-sulfamethoxazole, amoxicillin-clavulanic acid, and ampicillin. (cdc.gov)
Susceptibility Testing Susceptibility tests determine a microbe's vulnerability to antimicrobial drugs by exposing a standardized concentration of organism to specific concentrations of antimicrobial drugs. (msdmanuals.com)

SIGNIFICANCE: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease. (ox.ac.uk)
These whole-genome association studies show great promise to identify additional genes that contribute to the risk of AD. (psychiatrist.com)

Juvenile rheumatoid arthritis (JRA) is the most common chronic rheumatologic disease in children and is one of the most common chronic diseases of childhood (see the image below). (medscape.com)

This experimental approach can provide novel insights into gene-environment interactions underlying nigrostriatal degeneration and PD. (sri.com)
2 However, there have been limited studies on the gene‐environment interactions that contribute to a PD diagnosis and none have been replicated. (health.mil)
Most obesity, however, probably results from complex interactions among multiple genes and environmental factors that remain poorly understood (multifactorial obesity). (cdc.gov)
Most diseases involve complex interactions of the involved genes, in addition to environmental stimuli. (livemint.com)

Our results identified several genes with altered expression not previously linked to IBD. (johnshopkins.edu)
Genetic susceptibility to Chagas disease cardiomyopathy: involvement of several genes of the innate immunity and chemokine-dependent migration pathways. (hal.science)
Several genes have proven to be associated with pSS and PAH. (biomedcentral.com)

People with mutations in one or more of the associated genes inherit an increased risk of allergic asthma, not the condition itself. (medlineplus.gov)
Mutations in the gene bone morphogenic protein receptor type 2 ( BMPR2 ) were reported as the most common genetic cause of PAH and have proven to be associated with long-term outcomes in IPAH, HPAH, and anorexigen-associated PAH [ 5 ]. (biomedcentral.com)
Although pheochromocytomas have classically been associated with 3 syndromes-von Hippel-Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN 2), and neurofibromatosis type 1 (NF1)-there are now 10 genes that have been identified as sites of mutations leading to these tumors. (medscape.com)
Plasmid-mediated resistance genes are of particular concern because of their ability to spread between bacteria and their ability to promote chromosomal mutations conferring quinolone resistance, potentially resulting in rapid spread of fluoroquinolone resistance within or between populations of bacteria. (cdc.gov)
Common genetic abnormalities, particularly among whites, include Factor V Leiden and prothrombin gene 20210A mutations. (medscape.com)
610738) is caused by homozygous mutations in the HAX1 gene. (lu.se)

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. (ox.ac.uk)
Rearranged DNA in Alzheimer's Disease Susceptibility Genes? (rosettainstitute.org)
Home / Biomedical News / Rearranged DNA in Alzheimer's Disease Susceptibility Genes? (rosettainstitute.org)
But new research demonstrates that this process (called somatic recombination), might also occur in a gene called APP that has been shown to be important for the development of Alzheimer's Disease (AD). (rosettainstitute.org)
Comments Off on Rearranged DNA in Alzheimer's Disease Susceptibility Genes? (rosettainstitute.org)
Newswise - MINNEAPOLIS - Researchers know that the protein tau develops into tangles in the brains of people with Alzheimer's disease. (newswise.com)
These results are exciting, particularly since we know that tau accumulation is closely related to cognitive impairment in Alzheimer's disease," said study author Vijay Ramanan, M.D., Ph.D., of the Mayo Clinic in Rochester, Minn., and a member of the American Academy of Neurology. (newswise.com)
The study was supported by the National Institutes of Health, Gerald and Henrietta Rauenhorst Foundation, Alexander Family Alzheimer's Disease Research Award, Elsie and Marvin Dekelboum Family Foundation, Schuler Foundation and Avid Radiopharmaceuticals, which supplied the imaging agent that allows researchers to detect tau in the brain. (newswise.com)
Learn more about Alzheimer's disease at BrainandLife.org , home of the American Academy of Neurology's free patient and caregiver magazine focused on the intersection of neurologic disease and brain health. (newswise.com)
Toxic versions of the protein tau are believed to cause death of neurons of the brain in Alzheimer's disease. (sciencedaily.com)
The spread is restricted during normal aging, but in Alzheimer's disease the spread may be facilitated by beta-amyloid, and likely leads to widespread neuronal death and eventually dementia," says lead author Jacob Vogel from McGill University. (sciencedaily.com)
There are two proteins that are known to be linked to Alzheimer's disease -- beta-amyloid, which forms what is known as a plaque in the brain, and tau, which forms tangles within brain cells. (sciencedaily.com)
Mar. 18, 2022 Alzheimer's disease is the most common and best known of the tauopathies, a set of neurodegenerative brain diseases caused by toxic tangles of the protein tau. (sciencedaily.com)
Mar. 3, 2020 The toxic protein tau is a key biological feature in the brains of people with Alzheimer's disease. (sciencedaily.com)

Kong Q , Huang S , Zou W , Vanegas D , Wang M , Wu D , Chronic wasting disease of elk: transmissibility to humans examined by transgenic mouse models. (cdc.gov)
Coronary heart disease, susceptibility to, 8 is a protein that in humans is encoded by the CHDS8 gene. (wikipedia.org)
We concluded that Tg is a susceptibility gene for AITD, both in humans in and in mice. (elsevierpure.com)
Humans and chimps may share most of their genes, but humans are far more susceptible to diseases like cancer. (newscientist.com)

Raymond GJ , Raymond LD , Meade-White KD , Hughson AG , Favara C , Gardner D , Transmission and adaptation of chronic wasting disease to hamsters and transgenic mice: evidence for strains. (cdc.gov)
We then sequenced exons 10,12, and 33 of the mouse Tg gene in 19 strains of mice. (elsevierpure.com)
We then started to map asthma susceptibility in the Lmr series of recombinant congenic and subcongenic strains. (rug.nl)
However, recent data from the Centers for Disease Control and Prevention (CDC) and state and local public health partners show that these strains often have a quinolone resistance gene that may lead to clinically significant reduced susceptibility to fluoroquinolone antibiotics. (cdc.gov)
Shigella strains harboring PMQR genes were identified earlier this year following whole genome sequencing of isolates from a multistate outbreak of multidrug-resistant Shigella flexneri infections predominantly affecting adult men, many of whom identify as men who have sex with men, according to epidemiologic data collected by CDC's Shigella program as part of outbreak response. (cdc.gov)

A deep understanding of disease mechanisms will be needed to deliver etiology-based strategies to reverse this vexing trend. (frontiersin.org)
Indeed, "functional and mechanistic work on the molecular etiology of disease remains one of the major challenges in modern biology" ( 5 ). (frontiersin.org)

Finally, 2 studies have identified a genetic variant in GP6 , a gene that encodes the platelet collagen receptor, that confers an increased risk of VTE. (medscape.com)

Fine genotype mapping in the region is then used to identify the actual gene(s) responsible for the linkage peak. (medscape.com)
This result illustrates the feasibility that IDDM linkage studies using mapped sets of polymorphic DNA markers have, both for other areas of the genome in IDDM and for other polygenic diseases. (ox.ac.uk)

The genetic composition of a population's gene pool changes over time owing to mutation and other factors. (livemint.com)

1. Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou 510623, Guangdong, China. (jcancer.org)
Ongoing clinical trials are currently evaluating whether antibodies developed to bind to tau might stop the disease. (sciencedaily.com)
Corticosteroids have been used for all of the various clinical manifestations of Behçet disease. (medscape.com)
The clinical utility of HER-2/neu in patients with advanced disease is mainly for therapeutic monitoring. (degruyter.com)
In this manuscript, we review the biology and clinical applications of HER2 as a biomarker of disease and as a therapeutic target. (degruyter.com)
The aim of this study was to explore the genetic susceptibility of pSS-PAH and to establish a preliminary understanding on the association between genotypes and clinical phenotypes. (biomedcentral.com)
In Salmonella isolates, ciprofloxacin MICs of 0.12-1 μg/mL have been associated with reduced susceptibility, prolonged clinical illness, and treatment failures and are now categorized by CLSI as intermediate or resistant to ciprofloxacin in Salmonella species. (cdc.gov)

In the present study, a new approach to potentially offer a durable and broad-spectrum disease resistance towards D. solani and some other pathogens is explored. (slu.se)
By silencing the homologs of the susceptibility gene Downy Mildew Resistant 6 (DMR6) in diploid DM1- 3516 R44 and tetraploid Desirée background using RNA interference, an enhanced resistance was anticipated. (slu.se)
This report presents the status of AMR in Africa by analysing the main types of resistance and the underlying genes where possible. (who.int)
Shigella isolates without a quinolone resistance gene typically have a ciprofloxacin MIC of ≤0.015 μg/mL. (cdc.gov)
Rising fluoroquinolone MIC values among Shigella isolates may be related to the emergence of plasmid-mediated quinolone resistance (PMQR) genes in Shigella species in the United States. (cdc.gov)
Any patient with a Shigella infection could carry a strain harboring a quinolone resistance gene with a ciprofloxacin MIC of 0.12-1 μg/mL. (cdc.gov)
Sometimes molecular methods can be used to detect specific resistance genes. (msdmanuals.com)

American cutaneous leishmaniasis (ACL) causes a local inflammatory process, inducing expression of several cytokine genes. (bvsalud.org)

These results imply that germline allelic variation in genes involved in immune homeostasis--and, by extension, derangement of immune homeostasis--influence the risk of MS. (nih.gov)
Many of the associated genes are involved in the body's immune response. (medlineplus.gov)
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)
Cyclosporine is a cyclic polypeptide that suppresses some humoral immunity and, to a greater extent, cell-mediated immune reactions such as delayed hypersensitivity, allograft rejection, experimental allergic encephalomyelitis, and graft versus host disease for a variety of organs. (medscape.com)
The proposed Th1-Tr1 switch appears to bridge two stable, self-reinforcing immune states, pro- and anti-inflammatory, each with a characteristic gene regulatory network. (frontiersin.org)

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)
[ 18 ] The importance of obtaining a family history, a simple and frequently underutilized tool available to all clinicians, has been stressed by the Office of Genomics and Disease Prevention at the Centers for Disease Control and Prevention (CDC). (medscape.com)

However, as expected, the knowledge that resulted from these candidate gene studies has been limited to understanding molecular mechanisms related to known disease pathobiologic processes. (medscape.com)
DNA methylation is one of the major epigenetic mechanisms, and it plays an important role in determining gene function ( Hedrich and Tsokos, 2011 ). (frontiersin.org)

Multiple sclerosis (MS) is a T-cell-mediated disease of the central nervous system, characterized by damage to myelin and axons, resulting in progressive neurological disability. (nih.gov)

OBJECTIVE: Behçet's disease is generally considered to be a multifactorial disease with important genetic and environmental components. (ox.ac.uk)

Candidate gene studies represent the most common form of genetic association study performed to find asthma-susceptibility genes. (medscape.com)
Although they only minimally advance the field, studies such as these are the most commonly performed scientific investigation of asthma-susceptibility genes. (medscape.com)
[ 4 ] These genes are thought to be involved in atopy, bronchial hyperresponsiveness, elevated IgE levels, and other asthma-related traits, although the effect of each gene on asthma susceptibility seems to be small. (medscape.com)
Thus, unlike the candidate gene studies, GWAS are adequately powered to discover common genetic variations associated with complex disorders such as asthma. (medscape.com)
[ 6 , 13 ] All of the genes identified seemed to support a role for disordered inflammatory/immunologic responses, but the precise mechanism and impact of each gene on asthma susceptibility has yet to be elucidated. (medscape.com)
However, not all individuals with asthma have progressed through the atopic march, and not all individuals with one allergic disease will develop others. (medlineplus.gov)
Doctors believe genes are involved because having a family member with allergic asthma or another allergic disorder increases a person's risk of developing asthma. (medlineplus.gov)
Studies suggest that more than 100 genes may be associated with allergic asthma, but each seems to be a factor in only one or a few populations. (medlineplus.gov)
Most studies of the long term prognosis of childhood asthma have been based on selected groups of patients with severe or moderate asthma and provide limited information about the full range of the disease. (bmj.com)
Asthma is a pulmonary inflammatory disease in which patients suffer from wheezing and shortness of breath. (rug.nl)
First, we investigated the power of this approach for the mapping of asthma susceptibility using the CcS/Dem series. (rug.nl)

Protein MASP-2 and MAp19 encoded by MASP-2 genes both can bind with MBL, generate MBL-MASP compound, and then activate C4-C9 components in the complement system, generating membrane attack complex and opsonin as well as other inflammatory cytokines promoting the killing of pathogenic microorganisms [ 10 , 11 ]. (biomedcentral.com)
The candidate pathogenic genes may be the potential genetic markers for early warning of this disease. (biomedcentral.com)

Our research suggests that toxic tau may spread across different brain regions through direct neuronal connections, much like infectious diseases may spread to different cities through different transportation pathways. (sciencedaily.com)

When barrier function is impaired, altered permeability and barrier dysfunction can occur, leading to inflammatory bowel diseases, irritable bowel syndrome or obesity. (nature.com)

Other studies have compared obese and non-obese people for variation in genes that could influence behaviors (such as a drive to overeat, or a tendency to be sedentary) or metabolism (such as a diminished capacity to use dietary fats as fuel, or an increased tendency to store body fat). (cdc.gov)

Embryonic knockdown of the function of homologs of these genes in rat neocortical projection cell progenitors by in utero electroporation of plasmids encoding small hairpin RNA (shRNA) revealed that all three genes disrupted neuronal migration to the neocortex. (nih.gov)

This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. (ox.ac.uk)
Great efforts, involving human genome scans and candidate gene studies, have been given towards identifying susceptibility genes for AD. (unifg.it)
Whole-genome screening for susceptibility genes in multicase families with Behçet's disease. (ox.ac.uk)
There have been a variety of investigations into the genetic determinants of VTE, ranging from candidate gene studies to genome-wide association studies. (medscape.com)

PCR-SSP technology was applied to genotype rs7096206 of MBL genes and rs2273346 and rs6695096 of MASP-2 genes. (biomedcentral.com)
In other words, according to the "thrifty genotype" hypothesis, the same genes that helped our ancestors survive occasional famines are now being challenged by environments in which food is plentiful year round. (cdc.gov)

Given the same amount of exposure to a toxicant, persons will vary in how susceptible they are to disease induced by the exposure. (cdc.gov)
Even within a given developmental stage, shorter exposure intervals may determine susceptibility for particular outcomes. (cdc.gov)
This study seeks to assess the impact of measurement errors in cumulative exposure on estimates of a gene-environment interaction in a nested case-control study in occupational epidemiology. (bmj.com)
Three data analysis strategies were considered: one using a correctly specified disease model (exposure and exposure-gene interaction), and two using mis-specified disease models, one with "gene" as the only risk factor ("gene-only" model) and the other with main effects of both gene and exposure along with their interaction ("full" model). (bmj.com)
In simulations, estimates of the gene-environment interaction based on the correctly specified disease model were greatly attenuated and power was diminished appreciably even when errors in exposure were modest. (bmj.com)
Significant associations were detected more frequently in the gene-only model when errors in exposure were large. (bmj.com)
This is illustrated in an analysis of the interaction of cumulative exposure to organophosphate pesticides and paraoxonase gene on the risk of chronic neuropsychological effects among farmers who dip sheep. (bmj.com)
If "gene" contributes to disease risk only in the presence of exposure, the existence of the gene-environment interaction can be efficiently inferred from a deliberately mis-specified "gene-only" disease model in nested case-control studies. (bmj.com)

BRCA1 and BRCA2 genes are associated with hereditary breast/ovarian cancer (HBOC) syndrome. (cdc.gov)

Coronary artery disease (CAD) refers to a heart disease caused by ischemia and hypoxia of myocardial cells following coronary artery stenosis or blockage due to coronary atherosclerosis (AS). (biomedcentral.com)

Epigenetics refers to the study of heritable changes in gene function without alterations in DNA sequence ( Bird, 2007 ). (frontiersin.org)

Health care practitioners routinely collect family health history to help identify people at high risk of obesity-related diseases such as diabetes, cardiovascular diseases, and some forms of cancer. (cdc.gov)

Other genes over-expressed in both UC and CD included the REG gene family and the calcium-binding S100 protein genes S100A49 and S100P. (johnshopkins.edu)

Obesity is a serious public health problem because it is associated with some of the leading causes of death in the U.S. and worldwide, including diabetes, heart disease, stroke, and some types of cancer. (cdc.gov)
Complex, multi factorial diseases of modern day (diabetes, cardiovascular disease, hypertension and obesity) are a result of disparity between the type of food consumed and genes, suggesting that food which does not match the host genes is probably one of the major reasons for developing life style diseases. (wjgnet.com)

Brown P , Gibbs CJ Jr , Rodgers-Johnson P , Asher DM , Sulima MP , Bacote A , Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease. (cdc.gov)
Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (nih.gov)

In Japan, it is both a designated intractable disease and a specific pediatric chronic disease. (healthonlinenow.com)

The neurodegenerative process is believed to occur sub-clinically before the disease is typically diagnosed in the third decade of life. (frontiersin.org)

Overall, significant differences in the expression profiles of 170 genes identified UC and CD as distinct molecular entities. (johnshopkins.edu)
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)

Anatomy22

Organisms23

Diseases30

Chemicals and Drugs56

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Psychiatry and Psychology7

Phenomena and Processes91

Disciplines and Occupations5

Anthropology, Education, Sociology and Social Phenomena3

Information Science6

Named Groups6

Health Care17

Geographicals4

Loci14

Polymorphisms18

Locus15

SNPs4

Genetics1

Confer2

Parkinson's Disease6

Autoimmune30

Chromosome9

Variants7

Polymorphism4

Alleles4

Increases susceptibility1

Onset7

Antimicrobial5

Additional genes2

Rheumatoid arthritis1

Interactions4

Several genes3

Mutations6

Alzheimer's Disease14

Humans4

Strains5

Etiology2

Studies have identified1

Linkage2

Mutation1

Clinical7

Resistance7

Cytokine1

Immune5

Centers for Diseas3

Mechanisms2

Neurological disability1

Multifactorial1

Asthma11

Pathogenic2

Infectious Diseases1

Inflammatory Bowel Di1

Variation in genes1

Homologs1

Genome4

Genotype2

Exposure8

BRCA21

Coronary1

Epigenetics1

Cardiovascular diseases1

Protein genes1

Diabetes2

Human2

Chronic Disease1

Neurodegenerative1

Molecular2