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  • single nucleotide po
  • We studied the association of single nucleotide polymorphisms (SNPs) in peptidyl prolyl isomerase A (PPIA), transportin 3 (TNPO3) and PC4 or SFRS1 interacting protein 1 (PSIP1) genes with HIV-1 infection and disease progression. (ukzn.ac.za)
  • Our aim was to summarize the latest developments in the field from a public health perspective focusing on the applicability of data on single-nucleotide polymorphisms (SNPs), through a systematic review of studies from the last decade on genetic risk estimating for common CVDs. (frontiersin.org)
  • Recent total genome sequencing studies have shed light on the various single-nucleotide polymorphisms (SNPs) that are associated with IVDD. (frontiersin.org)
  • Four single nucleotide polymorphisms (SNPs) from the HMGB1 gene were selected and genotyped in 232 patients with RA and 353 healthy controls. (medsci.org)
  • pulmonary
  • Hereditary lung diseases can affect the airways (asthma, COPD, cystic fibrosis and primary ciliary dyskinesia), parenchyma (pulmonary fibrosis, Birt-Hogg-Dubé syndrome and, tuberous sclerosis) and vasculature (hereditary haemorrhagic telangiectasia) of the lung. (els.net)
  • However, many are complex genetic traits in which inheritance subtly affects pathogenesis, for example asthma and idiopathic pulmonary fibrosis. (els.net)
  • A greater understanding of the genetic basis of pulmonary conditions has provided new insights into their underlying pathophysiology and helped in some cases to shed light on more common sporadic forms. (els.net)
  • Pulmonary manifestations can be the presenting feature of several important inherited diseases. (els.net)
  • sporadic
  • Furthermore, although SLE has a strong genetic component, its occurrence is sporadic in families and concordance is incomplete, even among identical twins. (biomedcentral.com)
  • The study of rare monogenic disorders can provide important mechanistic clues to the pathogenesis of more common sporadic disease. (els.net)
  • 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)
  • clinical
  • The potential clinical application of GHR genetic variation is discussed for the optimization of the GH dosage in children or adults in order to enable them to reach their ideal final height as well as to prevent cardiovascular complications. (eurekaselect.com)
  • It registers clinical and molecular genetic data of all c. (bioportfolio.com)
  • The challenge in understanding SLE is therefore to explain the heterogeneity in disease course and to develop a model of pathogenesis that encompasses disparate clinical events. (biomedcentral.com)
  • The aim of this article is to review evidence from preclinical and clinical trials to discuss the influence of diabetes on sepsis pathophysiology, susceptibility, and clinical outcomes. (diabetesjournals.org)
  • The diagnosis of dynamic phase of disease, identifying patient at risk for periodontal disease, and focusing on early identification of microbial confront to host are tranquil for clinical investigations [ 3 , 8 , 9 ]. (hindawi.com)
  • Ultimately, a metabolomic approach to studying biological systems should lead to (1) a better understanding of the mechanism(s) involved in the dysregulation of pathways by environmental agents, (2) the development of predictive biomarkers or surrogate endpoints of toxicity or clinical response and 3) a more rational approach for the development of disease intervention/prevention strategies. (nih.gov)
  • apoptosis
  • Apoptosis-mediating genes, such as caspase 9 gene ( CASP9 ), TRAIL , and death receptor 4 ( DR4 ), as well as those for growth factors, such as growth differentiation factor 5 and VEGF, are identified to have polymorphisms that influence the risk of developing IVDD. (frontiersin.org)
  • P53 and MDM2 genes play important roles in the production of tumor-suppression proteins and the regulation of transcription factors, which may regulate the growth and the apoptosis of cell cycle and influence the susceptibility of lug cancer. (clinicaltrials.gov)
  • relation
  • Areas of management include sex assignment , genitoplasty , gonadectomy in relation to tumor risk, hormone replacement therapy , genetic counseling , and psychological counseling . (wikivividly.com)
  • molecular
  • Frequency of molecular mimicry among T-cell peptides as the basis for autoimmune disease and autoantibody induction. (springer.com)
  • Transmission biology and host range: What are the drivers of disease spread at the molecular and epidemiological level? (ed.ac.uk)
  • The characterization of metabolic profiles in the context of molecular and biochemical changes resulting from environmental exposures provides an integrative approach to study more directly the relationships between exposure and disease. (nih.gov)
  • outcome
  • Our objective was to assess the influence of the GST, CYP and TP53 gene polymorphisms in the risk of Graves' disease and its outcome. (clinicaltrials.gov)
  • Its application to periodontal science can be used to monitor health status, disease onset, treatment response, and outcome. (hindawi.com)
  • A paradigm shift for periodontal science occurred which is used to (i) monitor onset of disease, (ii) monitor status of disease in regard to health, (iii) monitor response to treatment, (iv) monitor outcome. (hindawi.com)
  • differences
  • Other work indicates that similarly, per nucleotide affected, large differences are seen for indels in the DNA polymorphism of the plant Arabidopsis thaliana ( R u = 51). (pnas.org)
  • This highlights characteristics of selected, widely studied genotypic/phenotypic differences, and allows discussion of how given genetic variations can influence responses to exogenous chemicals. (wiley.com)
  • Dr. Eaton's research interests focus on understanding how subtle genetic differences between individuals and species can result in potentially large differences in susceptibility to chemical carcinogens. (wiley.com)
  • CONCLUSIONS: The APOA1 −75 G/A polymorphism is associated with gallstone disease and shows sex-specific differences. (hindawi.com)
  • diversity
  • This review presents comprehensive and updated information about the diversity of genetic factors in the inflammatory, degradative, homeostatic, and structural systems involved in the IVDD. (frontiersin.org)
  • Breed effects on the virulence gene profiles and genetic diversity at FUT1, MUC4, MUC13 and MUC20 candidate genes for controlling diarrhoea-causing Escherichia coli. (ukzn.ac.za)
  • Methods
  • This review compiles the basics of periodontal proteomics, currently used proteomic methods, proteomic biomarkers specific to periodontal structure, and applied proteomics in oral health and disease. (hindawi.com)
  • evidence
  • There is no existing evidence that the Taq I polymorphism is directly associated with altered alcohol metabolism, but it might be in linkage disequilibrium with as yet unidentified protective factors. (bmj.com)
  • There is similar evidence of a large value of R u for sea urchins from the polymorphism of a sample of Strongylocentrotus purpuratus DNA ( R u = 3-4). (pnas.org)
  • Human genetic evidence suggests that indels are a major source of gene defects, indicating that indels are a significant source of evolutionary change. (pnas.org)
  • Accumulating evidence indicates that many genetic and acquired factors are implicated in the susceptibility of individuals to alcohol-induced liver injury ( 5 , 12 , 14 , 27 , 30 ). (physiology.org)
  • inheritance
  • Yet most HLA-associated diseases (which include infectious diseases and some forms of cancer) do not reveal a simple Mendelian mode of inheritance, either recessive or dominant, are only partially penetrant, and may involve a number of different HLA alleles in addition to non-HLA loci (3). (springer.com)
  • Hence, this study was designed to assess the influence of GSTT1, GSTM1, GSTP1, CYP1A1 and 72TP53 polymorphic inheritance on the susceptibility to Graves' disease and to its response to the treatment. (clinicaltrials.gov)
  • alcoholic
  • Aims -To investigate the associations between the Rsa I, Dra I, and Taq I genetic polymorphisms of cytochrome p4502E1 and susceptibility to alcoholic liver disease or to hepatocellular carcinoma. (bmj.com)
  • The distributions of Rsa I and Dra I alleles among the patients with alcoholic liver disease were not significantly different from those among the control group. (bmj.com)
  • 1, 2 Because the gene encoding CYP2E1 shows several polymorphisms, it has been speculated that these polymorphisms might, at least in part, explain the inherited variability in susceptibility to alcoholic liver disease. (bmj.com)
  • 1, 3 To date, the groups that have searched for possible associations between CYP2E1 genetic polymorphisms and alcoholic liver disease susceptibility have reported varied, often contradictory, results. (bmj.com)
  • 3- 13 Some of these discrepancies might relate to CYP2E1 having different putative roles in the pathogenesis of alcoholic liver disease in different ethnic groups. (bmj.com)
  • targets
  • These data strongly support the role of these HIV replication cofactors in disease pathogenesis in vivo and suggest that these factors are possible targets for therapeutic interventions. (ukzn.ac.za)
  • Together, these findings point to new genetic and immunologic markers of disease as well as targets for new therapies. (biomedcentral.com)
  • Genes that Modify Susceptibility to Atherosclerosis: Targets for Drug Action. (indigo.ca)
  • liver
  • 23andMe blog rs28929474(T) increases odds of liver disease in cystic fibrosis patients by 4.17 times. (snpedia.com)
  • However, the mechanism underlying the enhanced susceptibility of alcoholics to liver injury is not fully understood. (physiology.org)
  • It is these polymers which then tangle in the endoplasmic reticulum to cause inclusions that result in liver disease. (els.net)
  • disorders
  • Such conditions include simple monogenic disorders such as Kartagener syndrome and α1‐antitrypsin, wherein mutations of critical genes are sufficient to induce well‐defined disease phenotypes. (els.net)
  • onset
  • 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)