• 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)
  • Past studies have mapped four susceptibility loci (Pas1-4) for pulmonary adenoma in which A/J and C57BL/6J (B6) mice have different alleles that affect incidence and multiplicity of tumours. (bmj.com)
  • 4, 5 Four QTLs identified as pulmonary adenoma susceptibility (Pas) loci 1-4 have been mapped, respectively, to mouse chromosomes 6, 17, 19, and 9. (bmj.com)
  • Mouse pulmoary adenoma susceptibility loci (Pas) as mapped in crosses of strains A/J and C57BL/6. (bmj.com)
  • 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)
  • I am working on using Bioinformatics Tools to analyse diabetes susceptibility genes/loci. (seqanswers.com)
  • Functional analysis of candidate genes for those loci is underway. (biomedcentral.com)
  • Five candidate genes, LAMR1, SCRG1, PRND, RTN4 and VIM, were chosen due to their locations within or near mouse quantitative trait loci (QTL) for scrapie susceptibility. (uni-giessen.de)
  • However, sample size needs to be increased in order to identify genetic loci that have modest effects on scrapie susceptibility in sheep. (uni-giessen.de)
  • T polymorphism of the WDR4 gene was significantly associated with Wilms tumor. (jcancer.org)
  • Conclusion s : The present study suggests that the SLC6A4 rs140701 polymorphism variant may be associated with susceptibility to PD, and 5-HTTLPR polymorphism may be a predictor of response to sertraline in the treatment of PD. (researchsquare.com)
  • The frequency of HLA-DRB1* 14allele was higher in 11 responders to IFN compared with 24 non-responders (18.18% vs2.08%, OR = 10.444,P = 0.031), whereas that of DQB1*07 allele was inverse (9.09% vs 37.50%, OR = 0.167, P= 0.021).CONCLUSION: The polymorphism of HLA class Ⅱ may influence the susceptibility to HBV infection and the response to IFN in studied CHB patients. (wanfangdata.com.cn)
  • A single nucleotide polymorphism (SNP) of the protein kinase catalytic subunit alpha-1 gene ( PRKAA1 ) that confers susceptibility to gastric cancer (GC) was identified by genome-wide association in several case-control studies. (oncotarget.com)
  • 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)
  • For each candidate gene, one SNP was tested for possible association with scrapie status using DNA samples from an established scrapie DNA bank held at the Institute of Animal Breeding and Genetics, Justus-Liebig-University, Giessen, Germany.Genotyping was accomplished using restriction fragment length polymorphism (RFLP) or amplification-created restriction site (ACRS)-RFLP analyses. (uni-giessen.de)
  • Is human dectin-1 Y238X gene polymorphism related to susceptibility to recurrent vulvovaginal candidiasis? (ac.ir)
  • A polymorphism in Dectin-1 (Y238X, rs16910526 ) was identified in patients with RVVC and hypothesized that genetic factors play an important role in susceptibility to RVVC. (ac.ir)
  • Dectin-1 Y238X gene polymorphism was investigated using Bi-PASA and DNA sequencing. (ac.ir)
  • Conclusion: No significant correlations were observed between the susceptibility to RVVC and Dectin-1 Y238X polymorphism in the Iranian population, which was not previously studied. (ac.ir)
  • Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. (uni-regensburg.de)
  • OBJECTIVE To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes. (uni-regensburg.de)
  • Genetic predictive testing and clinical investigation by imaging from neck to pelvis was offered to mutation-positive registrants and their relatives to clinically characterize the pheochromocytoma/paraganglioma diseases associated with mutations of the 4 new genes. (uni-regensburg.de)
  • MAIN OUTCOMES AND MEASURES Prevalence and spectra of germline mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes were assessed. (uni-regensburg.de)
  • 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)
  • Loss‐of‐function mutations in these genes lead to lack of susceptibility, which means resistance. (fmach.it)
  • While EGFR mutations are more commonly associated with the development of lung cancer itself, certain variations in the EGFR gene have also been implicated in lung cancer susceptibility, particularly in non-smokers. (thisnicegift.com)
  • Mutations in the ATM gene, which is involved in DNA repair and maintenance of genomic stability, have been linked to an increased risk of lung cancer. (thisnicegift.com)
  • To examine whether the heat shock proteins affect the bactericidal action of FQs, we constructed E. coli strains with mutations in various heat shock genes and tested their susceptibility to FQs. (biomedcentral.com)
  • We analyzed the proteins induced in Escherichia coli by exposure to FQs, then examined the susceptibilities to these agents of E. coli strains with mutations in the genes encoding these proteins. (biomedcentral.com)
  • Naturally occurring mutations in the gene for the β-cell enzyme glucokinase (GCK) result in both hyper- and hypo-glycaemia. (ox.ac.uk)
  • Current results indicate the importance of these genes in pancreatic development and suggest that mutations which result in a severe functional defect could be lethal. (ox.ac.uk)
  • People with mutations in one or more of the associated genes inherit an increased risk of allergic asthma, not the condition itself. (medlineplus.gov)
  • Here we report the association of three Mre11 complex mutations with hereditary breast cancer susceptibility, studied by using a case-control design with 317 consecutive, newly diagnosed Northern Finnish breast cancer patients and 1000 geographically matched healthy controls (P = 0.0004). (lu.se)
  • Inhibiting the activity of this enzyme increases the susceptibility to mutations, and damage and aberrant DNA methylation, which alters the gene expression of tumor suppressors and proto-oncogenes, potential risk factors for esophageal cancer. (revistaabcd.org.br)
  • A group of 24 pancreatic cancer patients with young age at onset, from a referral hospital in Tehran University of Medical Sciences were screened for mutations in 710 cancer relevant genes using next generation sequencing technology. (journalaim.com)
  • Two patients had pathogenic mutations in known pancreatic cancer susceptibility genes, BRCA1/2. (journalaim.com)
  • Two other patients also had potentially pathogenic mutations in 2 novel candidate genes including PARP4 and EXO1. (journalaim.com)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • [ 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)
  • 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)
  • However, the susceptibility locus for pSS-PAH remains unknown. (biomedcentral.com)
  • Casc1, alias Las1, is one of the six genes constituting the mouse Pulmonary adenoma susceptibility 1 (Pas1) locus haplotype. (wikipedia.org)
  • Haplotype sharing suggests that a genomic segment containing six genes accounts for the pulmonary adenoma susceptibility 1 (Pas1) locus activity in mice. (wikipedia.org)
  • However, progress in identifying the new susceptibility genes outside the MHC locus has been slow. (biomedcentral.com)
  • So far we have confirmed C5 as a putative susceptibility gene for the Cia2 locus on chromosome 2. (biomedcentral.com)
  • Here we reconstruct the evolutionary history of the locus and identify bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens. (pacb.com)
  • The human protein Kinase C gamma gene (PRKCG) as a susceptibility locus for behavioral disinhibition. (bvsalud.org)
  • 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)
  • 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)
  • With the release of a genome wide SNPs database, it has become feasible to analyse these genetically determined QTLs for genes polymorphic in these strains. (bmj.com)
  • All 11 selected SNPs within candidate genes were verified by polymerase chain reaction (PCR) sequencing. (bmj.com)
  • 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)
  • 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)
  • The aim of this study was to investigate the association of SNPs of three adhesion molecule genes, ICAM1 , PECAM1 and CD36 , with severity of falciparum malaria in a malaria-endemic and a non-endemic region of India. (biomedcentral.com)
  • Single nucleotide polymorphisms (SNPs) in genes encoding CD36, ICAM-1 and PECAM-1 have been previously correlated with disease protection/susceptibility from different populations but these reports have often been contradictory. (biomedcentral.com)
  • It has been estimated that PRNP is responsible for approximately 79% of the genetic influence of PRNP on classical scrapie susceptibility.The goal of the study was to identify single nucleotide polymorphisms (SNPs) in candidate genes for scrapie susceptibility and test them for association with both classical and atypical scrapie susceptibility in sheep. (uni-giessen.de)
  • No significant associations between candidate gene SNPs and scrapie status could be shown. (uni-giessen.de)
  • Due to the low numbers of animals genotyped for the association studies, these genes cannot be excluded as candidate genes for scrapie susceptibility in sheep.With the development of the Illumina Ovine SNP50 BeadChip, it would be possible to use the chip to identify SNPs associated with scrapie susceptibility. (uni-giessen.de)
  • 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)
  • In a study reported in JAMA Oncology , researchers from the Breast Cancer Association Consortium found that pathogenic germline variants in nine breast cancer susceptibility genes were associated with different breast cancer subtypes, although most were also associated with triple-negative disease. (ascopost.com)
  • The results of this case-control study suggest that variants in the nine breast cancer risk genes differ substantially in their associated pathology but are generally associated with triple-negative and/or high-grade disease. (ascopost.com)
  • Therefore, the certain variants in the serotonin-related genes, such as serotonin transporter (5-HTT), 5-HT1A receptor (5-HTR1A), 5-HT2A receptor (5HTR2A) and catechol-O-methyltransferase (COMT) genes, may influence 5-HT neurotransmission, and they are good candidates for the study of PD. (researchsquare.com)
  • The team will use whole‐genome sequencing and bioinformatics to investigate the genetic variants involved in susceptibility to PD. (health.mil)
  • Some variants in the TERT gene have been associated with an increased risk of lung cancer. (thisnicegift.com)
  • Namely, a significant portion of the inherited susceptibility to common diseases may be due to summation of the effects of a series of low-frequency dominantly and independently acting variants of a variety of different genes. (nature.com)
  • 6 Regarding RA, deep exon sequencing of 25 biological candidate genes which were identified by genome-wide association studies revealed that the aggregated contribution of low-frequency and common coding variants to the risk of RA using 10 609 RA cases and 35 605 controls. (nature.com)
  • Pathogenic variants in genes encoding CaM ( calmodulin ) are associated with a life -threatening ventricular arrhythmia syndrome (calmodulinopathy). (bvsalud.org)
  • The CXCL12 gene is located on long arm of chromosome 10 and was first cloned from a bone marrow-derived stromal cell line and then, identified as pre-B cell growth stimulating factor [ 10 ]. (biomedcentral.com)
  • Since PRND is located near the PRNP gene on ovine chromosome (OAR) 13, positive and negative DNA samples were matched for PRNP genotype. (uni-giessen.de)
  • Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. (pacb.com)
  • The gene region on chromosome 11p15.5 known to be involved in insulin-dependent diabetes mellitus (IDDM) susceptibility was recently mapped to a 4.1-kilobase region including the insulin gene. (ox.ac.uk)
  • This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. (medscimonit.com)
  • C polymorphisms and susceptibility to esophageal cancer, by assessing the distribution of genotypes and haplotypes between cases and controls, as well as to investigate the association of polymorphisms with clinical and epidemiological characteristics and survival. (revistaabcd.org.br)
  • Genes may influence susceptibility to MS, but results of association studies are inconsistent, aside from the identification of HLA class II haplotypes. (nih.gov)
  • Genetic testing can help identify specific genetic factors that may influence susceptibility to lung cancer and guide personalized healthcare strategies. (thisnicegift.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)
  • Fine genotype mapping in the region is then used to identify the actual gene(s) responsible for the linkage peak. (medscape.com)
  • PCR-SSP technology was applied to genotype rs7096206 of MBL genes and rs2273346 and rs6695096 of MASP-2 genes. (biomedcentral.com)
  • Male Calm1S/+ mice had the most severe arrhythmia phenotype with evidence of early embryonic lethality, greater susceptibility for arrhythmic events, frequent premature beats , corrected QT prolongation, and more heart rate variability after epinephrine and caffeine than females with the same genotype . (bvsalud.org)
  • The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. (alzforum.org)
  • of the Department of Pediatrics, Kobe University Graduate School of Medicine) has revealed that NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children. (healthonlinenow.com)
  • It is believed that an immunological trigger, such as an infection, stimulates the syndrome's occurrence in people who have some kind of genetic susceptibility (disease-susceptibility gene. (healthonlinenow.com)
  • It is understood that HLA-DR/DQ is a disease-susceptibility gene for this syndrome, however susceptibility genes outside the HLA have not been illuminated. (healthonlinenow.com)
  • A trans-ethnic international meta-analysis was then conducted, and it revealed that NPHS1 is a disease-susceptibility gene. (healthonlinenow.com)
  • It is thought to occur due to a combination of some kind of genetic factor (disease-susceptibility gene) and an immunological trigger, such as an infection. (healthonlinenow.com)
  • s research up until now has revealed that HLA-DR/DQ is a disease-susceptibility gene, however susceptibility genes outside the HLA region have yet to be illuminated. (healthonlinenow.com)
  • Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. (washington.edu)
  • Exome Sequencing Project scientists are using an approach similar to the one in this study to examine the genetics behind resistance and susceptibility to other chronic conditions like obesity, heart attacks and hypertension. (washington.edu)
  • 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)
  • Susceptibility/resistance of human populations to severe falciparum malaria has been associated with variations in more than 30 genes. (biomedcentral.com)
  • Our work aims to study Mlo genes in apple, in order to achieve broad spectrum resistance. (fmach.it)
  • Further we are silencing mlo‐like genes using a RNA interference approach, in order to deprive the pathogen of its target and, therefore, to obtain resistance. (fmach.it)
  • Table: Relationship of Codon Changes in the PNRP Gene to Scrapie Susceptibility or Resistance in Sheep and Goats. (msdvetmanual.com)
  • This report presents the status of AMR in Africa by analysing the main types of resistance and the underlying genes where possible. (who.int)
  • Sometimes molecular methods can be used to detect specific resistance genes. (msdmanuals.com)
  • Cefoxitin (30g) was used as surrogate to determine phenotypic methicillin resistance in staphylococcus isolates, and the methicillin resistance ( mec A) gene was detected by conventional PCR assay. (who.int)
  • Certain polymorphisms in the prion protein gene (PRNP) gene have been shown to modulate classical and atypical scrapie susceptibility in sheep. (uni-giessen.de)
  • ESBL production and antibiotic susceptibility were determined using the Trek Diagnostics system. (who.int)
  • Etests were used to determine antibiotic susceptibilities. (lu.se)
  • Antibiotic susceptibility testing to selected antibiotics was done using Kirby-Bauer disk diffusion technique. (who.int)
  • Here we present preliminary data using an integrative genomics strategy to identify new putative susceptibility genes contributing to the pathogenesis of CIA. (biomedcentral.com)
  • Genes were chosen based on their chromosomal positions or biological functions. (nih.gov)
  • Previously, classical genetic studies involving cross breeding of mouse strains with differing susceptibilities have identified chromosomal areas associated with predisposition to developing spontaneous and chemically induced lung adenomas. (bmj.com)
  • Polygenic Scores (PSs) describe the genetic component of an individual's quantitative phenotype or their susceptibility to diseases with a genetic basis. (nature.com)
  • Calm2 S/+ mice exhibited a less severe phenotype , with female Calm2 S/+ mice having the least severe arrhythmia susceptibility. (bvsalud.org)
  • We report heterogeneity in arrhythmia susceptibility and cardiomyocyte Ca2+ dynamics among male and female mice heterozygous for a recurrent pathogenic variant in Calm1 or Calm2, illustrating a complex calmodulinopathy phenotype in vivo. (bvsalud.org)
  • Comparisons of the protein coding portions of the study subjects DNA called the researchers attention to missense variations of the DCTN4 gene. (washington.edu)
  • Cancer susceptibility 1 is a protein that in humans is encoded by the CASC1 gene. (wikipedia.org)
  • The protein encoded by this gene has a very high similarity between human and rodents. (grantome.com)
  • 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 NPHS1 gene encodes nephrin, a component protein for the renal glomerulus slit diaphragm, which prevents protein from being passed in the urine. (healthonlinenow.com)
  • 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)
  • Susceptibility genes encode products that are required for the pathogen's survival or proliferation, thus making a plant more susceptible to disease development. (slu.se)
  • Mlo genes encode for susceptibility factors and are therefore called susceptibility genes (S‐genes). (fmach.it)
  • There is evidence that, although incidence is almost always associated with environmental factors such as smoking or occupational exposure, susceptibility has a genetic component with early onset lung cancer following Mendelian inheritance. (bmj.com)
  • In humans, the wide variety of carcinogens and varying degrees of exposure make identifying the predisposing genes difficult, but in a mouse model, such confounding variables can be controlled. (bmj.com)
  • Elucidating Gene-by-Environment Interactions Associated with Differential Susceptibility to Chemical Exposure. (oregonstate.edu)
  • It is well known that expression of certain bacterial genes responds rapidly to such stimuli as exposure to toxic chemicals and physical agents. (biomedcentral.com)
  • Even within a given developmental stage, shorter exposure intervals may determine susceptibility for particular outcomes. (cdc.gov)
  • These whole-genome association studies show great promise to identify additional genes that contribute to the risk of AD. (psychiatrist.com)
  • Using the Hewlett-Packard D300e Digital Dispenser, highly resistant Enterobacterales isolates will be tested for susceptibility to the combination of aztreonam/avibactam. (cdc.gov)
  • Susceptibility results for confirmed MBL-producing isolates will be returned within 3 business days to help guide treatment decisions. (cdc.gov)
  • No bla(SHV) genes were detected in any of the isolates, whereas all contained the bla(TEM) gene. (who.int)
  • This study was aimed at determining the urinary bacterial isolates and their susceptibility to selected antibiotics among pregnant women attending antenatal clinics of selected Hospitals in Ilorin, Nigeria. (who.int)
  • The Gram-positive isolates showed high susceptibility rate of 100% while the Gram-negative isolates showed moderate susceptibility of 69.2% to nitrofurantoin. (who.int)
  • Four of the 9 (44.4%) CoNS isolates were cefoxitin resistant and all the 4 (100%) carried mec A gene. (who.int)
  • These results suggest that differential expression of Apaf-1 and caspase-3 genes may underlie regulation of apoptotic susceptibility during brain development, as well as after acute injury to mature brain, through the intrinsic pathway of caspase activation. (jneurosci.org)
  • Differential expression of six of seven candidate genes were confirmed. (bmj.com)
  • We tested the hypothesis that population variability in response to certain chemicals could elucidate a role for gene-environment interactions (GxE) in differential susceptibility. (oregonstate.edu)
  • We found GxE associated with differential susceptibility in the promoter region and then confirmed gene expression differences between phenotypic response classes. (oregonstate.edu)
  • BRCA1/2 genes are the most commonly mutated pancreatic cancer susceptibility genes that should be considered in all pancreatic cancer cases with young age at onset or a family history of cancer. (journalaim.com)
  • BRCA1 and BRCA2 genes are associated with hereditary breast/ovarian cancer (HBOC) syndrome. (cdc.gov)
  • The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. (uni-regensburg.de)
  • 001). CONCLUSIONS AND RELEVANCE The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma. (uni-regensburg.de)
  • The results of the cystic fibrosis infection susceptibility study appear July 8 in Nature Genetics. (washington.edu)
  • In the present study, we demonstrated that CXCL12 rs1801157 is independently associated with HPV infection and exerts influence in HSIL development, suggesting it as a promising susceptibility biomarker for HPV infection and lesions development. (biomedcentral.com)
  • 6 Inbred mouse strains vary in their susceptibility to cancer and two extreme strains are A/J (susceptible) and C57BL/6J (B6, resistant). (bmj.com)
  • Additionally, gene expression profiling in target tissues and immune cells in parental strains and their F2 progeny is performed. (biomedcentral.com)
  • Twenty-five strains (40.3%) harbored the CTX-M group 1 gene. (who.int)
  • 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)
  • 1, 2 Moreover, susceptibility is largely intrinsic to the lung itself as shown by the classical experiments involving lung explants from sensitive and resistant mice. (bmj.com)
  • Genetic testing is recommended in patients at clinically high risk if the classic genes are mutation negative. (uni-regensburg.de)
  • A mutation in codon 29 (K56M, rs5491) of the ICAM1 gene was identified in the Kilifi region of Kenya and homozygotes for the mutation were found to be more frequent in patients suffering from cerebral malaria than in controls [ 7 ]. (biomedcentral.com)
  • It's important to note that the interplay between genetics and environmental factors is complex, and the contribution of genetic susceptibility to lung cancer risk can vary among individuals. (thisnicegift.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)
  • Haplotypes increasing susceptibility to atypical scrapie, such as AHQ or AF141RQ, contrast with those of classical scrapie. (uni-giessen.de)
  • C polymorphisms and haplotypes, with esophageal cancer susceptibility. (revistaabcd.org.br)
  • 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)
  • 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)
  • 3 Identification of the genes predisposing to cancer could yield targets for treatment or chemoprevention. (bmj.com)
  • Identification of the genes predisposing to mouse lung cancer could have considerable implications for diagnosis, treatment, or chemoprevention of lung cancer in humans. (bmj.com)
  • This suggests that the deposition of these tau proteins in the brain may be influenced by different inherited factors than the known genes that increase the risk of Alzheimer's," Ramanan said. (newswise.com)
  • Recent studies have provided evidence that neuronal susceptibility to apoptosis induced by traumatic or ischemic injury decreases during brain development. (jneurosci.org)
  • Eldadah and Faden, 2000 ), we hypothesized that suppression of apoptotic capability during maturation of mammalian brain results from repression of genes involved in the caspase-3 activation pathway, and that injury-induced neuronal apoptosis in the mature brain results from reactivation of these genes. (jneurosci.org)
  • These findings suggest an effect for RAD50 and NBS1 haploinsufficiency on genomic integrity and susceptibility to cancer. (lu.se)
  • After stepwise filtering, 107 genes showed less than 0.05 of P -values by gene-burden tests. (nature.com)
  • Knowing the age and tumor subtype distributions associated with individual breast cancer genes can potentially aid guidelines for gene panel testing, risk prediction, and variant classification and guide targeted screening strategies. (ascopost.com)
  • and susceptibility to BREAST CANCER. (bvsalud.org)
  • It is well established that common genetic variation in genes involved in monogenic forms of β-cell dysfunction contributes to susceptibility to T2DM. (ox.ac.uk)
  • Overall, the distribution of intrinsic subtypes by gene exhibited wide heterogeneity. (ascopost.com)
  • Genes for which associations or other plausible links with cancer have been published were deemed as final candidates. (bmj.com)
  • What are the genes for lung cancer susceptibility? (thisnicegift.com)
  • There are certain genetic factors that can contribute to an individual's susceptibility to lung cancer. (thisnicegift.com)
  • Variations in the CHRNA3 and CHRNA5 genes, which code for nicotinic acetylcholine receptor subunits, have been linked to an increased risk of nicotine dependence and lung cancer, particularly in smokers. (thisnicegift.com)
  • Genetic variations in these genes may affect an individual's ability to metabolize and eliminate harmful substances, influencing lung cancer risk. (thisnicegift.com)
  • Variations in these genes may impact the efficiency of DNA repair mechanisms, potentially increasing the risk of lung cancer. (thisnicegift.com)
  • C polymorphisms and esophageal cancer susceptibility risk. (revistaabcd.org.br)
  • PARP4 and EXO1 also are potential candidate genes for susceptibility to pancreatic cancer. (journalaim.com)
  • However, the relationship between polymorphisms in the WDR4 gene and susceptibility to Wilms tumor remains to be fully investigated. (jcancer.org)
  • TP53 is a tumor suppressor gene that plays a crucial role in preventing the formation and growth of tumors. (thisnicegift.com)
  • Our current studies focus on how the tumor susceptibility gene 101 (TSG101) prevents tumorigenesis in mammary epithelial cells. (grantome.com)
  • We will investigate whether TSG101 has characteristics of a tumor suppressor gene or mammary tissue. (grantome.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)
  • Among 107 genes, NDUFA7 which is a subunit of the complex I in the mitochondrial respiratory chain was selected for further analysis based on previous reports. (nature.com)
  • In the next step, four SNVs from three genes related to the mitochondrial respiratory chain were selected, which is a major source of ROS, and conducted a case-control study. (nature.com)
  • There was no relationship between these new genetic markers and other genes that have previously been identified as related to Alzheimer's risk, including the apolipoprotein E gene, or APOE. (newswise.com)
  • The aim of the present study was to examine the association of serotonin-related gene polymorphisms with PD risk. (researchsquare.com)
  • Over 300 samples from the FAME study database will be examined in this groundbreaking study with the goal of conclusively linking environmental risk factors and susceptibility to PD. (health.mil)
  • 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)
  • Several risk factors were reported to contribute to RVVC susceptibility. (ac.ir)
  • Thus, unlike the candidate gene studies, GWAS are adequately powered to discover common genetic variations associated with complex disorders such as asthma. (medscape.com)
  • This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections. (washington.edu)
  • They plumb for gene variations linked to heart disease, for example by putting DNA maps from people with ideal cholesterol levels up against those from people with exceptionally poor levels. (washington.edu)
  • The data highlights the significance of variations in the ICAM1 , PECAM1 and CD36 genes in the manifestation of falciparum malaria in India. (biomedcentral.com)
  • With the advent of new global methods for genetic analysis such as large-scale sequencing, gene expression profiling, combined with classical linkage analysis, congenic and physical and in silico fine mapping, progress is considerably accelerating. (biomedcentral.com)
  • We have also attempted to verify a series of differentially expressed candidate susceptibility genes to lung tumours in our previous microarray analysis with semiquantitative reverse transcriptase PCR (RT-PCR). (bmj.com)
  • Candidate gene studies represent the most common form of genetic association study performed to find asthma-susceptibility genes. (medscape.com)
  • We did not have a candidate gene in mind when we did this study," said Emond. (washington.edu)
  • Pharmacogenomic studies focusing on candidate gene polymorphisms implicated in antidepressant response, especially in the serotonergic pathway. (researchsquare.com)
  • Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed to predict the functional effect of mutant genes. (biomedcentral.com)
  • The increased susceptibility of the lon mutant was corroborated by experiments in which the gene encoding the cell division inhibitor, SulA, was subsequently disrupted. (biomedcentral.com)