• Genetic variants in TLR3 were determined by polymerase chain reaction (PCR)-based DNA direct sequencing and four SNPs were genotyped in all samples. (biomedcentral.com)
  • So far, more than 60 VDR single nucleotide polymorphisms (single-nucleotide polymorphisms, SNPs) have been identified, but the most studied are FOKI (exon 2), BsmI, ApaI (intron 8), and TaqI (exon 9). (hindawi.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)
  • It has been estimated that 90% of genetic variations in humans are due to single nucleotide polymorphisms (SNPs) [ 1 ], most of which have minor allele frequencies exceeding 0.05 and will provide a significant proportion of common causal variants that will be mapped and identified in the future. (biomedcentral.com)
  • Hence, the discovery of causal variants for common diseases is set to accelerate and it would be advantageous if the functional effects of SNPs could be predicted bioinformatically, in order to direct functional studies and narrow down the best candidate SNPs in regions of the genome that show high LD. (biomedcentral.com)
  • Predisposition to vitiligo and its associated autoimmune diseases may be related to single nucleotide polymorphisms (SNPs) of genes, such as rs12150220, rs2670660, rs6502867, and rs8182352 of the NLRP1 gene on chromosome 17p13.2, which is also named NALP1 (NACHT, LRR, and PYD Domains-Containing Protein 1) [ 8 - 12 ]. (oncotarget.com)
  • Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation, and participate in carcinogenesis. (jcancer.org)
  • Single-nucleotide polymorphisms (SNPs) can alter gene function and protein expression. (geneticsmr.com)
  • Variations in toxicity and response to therapy are observed among patients despite similar clinicopathologic characteristics which are attributed to single nucleotide polymorphisms (SNPs). (researchsquare.com)
  • So, the aim of this review was to investigate the effect of single nucleotide polymorphisms (SNPs) on response rate and toxicity in HNSCCs. (researchsquare.com)
  • Single nucleotide polymorphisms (SNPs) in miRNAs and risk of breast cancer have been evaluated in populations of European or Asian ancestry, but not among women of African ancestry. (cdc.gov)
  • A single nucleotide polymorphism, PTPN22 R620W , is one of the strongest genetic risk factors for multiple autoantibody associated human autoimmune diseases. (frontiersin.org)
  • A proportion of these will alter protein sequences, the most common of which is the non-synonymous single nucleotide polymorphism (nsSNP). (biomedcentral.com)
  • We tested single-nucleotide polymorphism associations with the presence or absence of emphysema determined by radiologist assessment in two of the three cohorts and a quantitative emphysema trait (percentage of lung voxels less than -950 Hounsfield units) in all three cohorts. (atsjournals.org)
  • All of the genotypes analyzed were in Hardy-Weinberg equilibrium, but different degrees of linkage were observed for polymorphisms in the CYP1A1 and EPHX1 genes. (scielo.br)
  • Background: As microRNAs play important roles in cancer development and progression by regulating the expressions of oncogenes and tumor suppressor genes though interacting with the 3' untranslated region (UTR) of target genes, we aimed to evaluate the association between genetic variants of miRNAs and their binding sites and prognosis in patients with colorectal cancer (CRC). (iiarjournals.org)
  • For CRC, polymorphisms in the genes involved in tumor progression, apoptosis, and angiogenesis have already been extensively studied for their association with cancer susceptibility and prognosis ( 1 - 7 ). (iiarjournals.org)
  • Susceptibility loci on chromosomes 19q13 and 4q31 have been identified and correspond to genes that express inflammatory cytokines, such as interleukin-15, and proteins that regulate apoptosis. (basicmedicalkey.com)
  • Many diseases have been found to be related to genes. (researchsquare.com)
  • The polymorphic variants of the IGF genes may serve as a susceptibility factor for pancreatic cancer. (aacrjournals.org)
  • Therefore, the aim of this study was to evaluate the effects of common genetic variants among eight immunodeficiency pathway-related genes on disease recurrence in prostate cancer patients treated with radical prostatectomy. (biomedcentral.com)
  • Genetic and bioinformatic analyses on 19 haplotype-tagging single-nucleotide polymorphisms in eight immunodeficiency pathway-related genes were conducted in 458 patients with prostate cancer after receiving radical prostatectomy. (biomedcentral.com)
  • In the present study, we first conducted a genetic analysis to evaluate the effects of common variants among eight immunodeficiency pathway-related genes on disease recurrence in 458 patients with prostate cancer after receiving radical prostatectomy. (biomedcentral.com)
  • We give examples of mutations in genes that are predicted to be deleterious and may have a role in disease. (biomedcentral.com)
  • 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)
  • Polymorphisms in DNA damage repair genes are important determinants for cancer susceptibility, clinical phenotype diversity, and therapy. (jcancer.org)
  • The matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectroscopy-based genotyping system was used to genotype 601 individuals (200 lung cancer patients and 401 age- and sex-matched healthy controls) for polymorphisms in excision repair cross-complementing group 1 ( ERCC1 ) and ERCC5 genes. (jcancer.org)
  • ERCC5 rs4771436 and rs1047768 genotypes were associated with an increased risk of lung cancer, suggesting that polymorphisms in DNA repair genes are significantly related to the risk of lung cancer, and play an important role in the occurrence of lung cancer. (jcancer.org)
  • Polymorphisms in apoptosis and cell cycle control genes and risk of brain tumors in adults. (cdc.gov)
  • INTRODUCTION: Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1 , BRCA2 , MLH1 , MSH2 , TP53 , and PTEN , is becoming an increasingly important part of clinical practice. (xenbase.org)
  • In each category, studies related to growth control genes, cell proliferation, apoptosis, DNA repair genes, antioxidant and drug detoxification genes, genes of drug metabolizing enzymes, tissue remodeling genes and genes of antibody-dependent cellular cytotoxicity were discussed separately. (researchsquare.com)
  • 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)
  • Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci. (sergas.gal)
  • 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)
  • Wang Z, Lu Y, Fornage M, Jiao L, Shen J, Li Donghui , Wei P . Identification of novel susceptibility methylation loci for pancreatic cancer in a two-phase epigenome-wide association study. (mdanderson.org)
  • Genetic variants in IFNG and IFNGR1 and tuberculosis susceptibility. (tamhsc.edu)
  • Genome-wide association studies of common diseases for common, low penetrance causal variants are underway. (biomedcentral.com)
  • Genetic variants are linked to vitiligo and associated autoimmune diseases. (oncotarget.com)
  • Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants. (xenbase.org)
  • However, the association between genetic variants of AKT1 and the risk of developing prostate cancer has not been investigated before. (geneticsmr.com)
  • Our study suggests that genetic variants in BICD1 are associated with qualitative emphysema in COPD. (atsjournals.org)
  • 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)
  • Several studies found decreased interferon-gamma levels that result from genetic mutations, such as at the rs1861494 allele or +874 position. (tamhsc.edu)
  • Regulation of single nucleotide polymorphisms (SNP) in micro-RNA (miRNA) on the host cells may be one of the most important factors influencing the occurrence of cervical cancer based on the prevalence of HPV infection and the development of cervical cancer. (researchsquare.com)
  • To determine whether genetic variations of IGF modify pancreatic cancer risk, we compared the frequency of six single nucleotide polymorphisms of IGF1 and IGF2 in a large-scale case control study. (aacrjournals.org)
  • Single nucleotide polymorphisms were investigated using the TaqMan method in 892 patients with pancreatic ductal adenocarcinoma and 783 healthy controls who were recruited from The University of Texas M. D. Anderson Cancer Center from 2000 to 2007. (aacrjournals.org)
  • NLRP1 protein is a member of the nucleotide oligomerization domain-like receptors (NLRs) family and regulates inflammasome activation, cellular apoptosis, innate immune system [ 13 , 14 ], and some inflammatory disorders or autoimmune diseases [ 15 ]. (oncotarget.com)
  • In these studies, upwards of a million single-nucleotide polymorphisms are typed in each individual. (medscape.com)
  • Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. (xenbase.org)
  • Association between single nucleotide polymorphisms in AKT1 and the risk of prostate cancer in the Chinese Han population. (geneticsmr.com)
  • Another germline deletion ( TGFBR1*6A ) and somatic mutations in the TGFBR1 were also analyzed by PCR and single-strand conformational polymorphism. (aacrjournals.org)
  • 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)
  • 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)
  • Then we conducted a meta-analysis (for the first time) to investigate their susceptibility to cervical cancer. (researchsquare.com)
  • To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. (sergas.gal)
  • This study aimed to investigate the role of DNA damage repair gene polymorphisms in the risk of lung cancer. (jcancer.org)
  • This article aims to review studies on the role of OP compounds in developing these neurological disorders and explore how genetic variations can affect susceptibility to the neurotoxicity of these pesticides. (bvsalud.org)
  • 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)
  • The recent sequencing of the human genome has provided a wealth of information detailing several million genetic variations between individuals. (biomedcentral.com)
  • Genetic Variations in the Vitamin D Receptor Predict Type 2 diabetes and Myocardial Infarction in a Community-Based Population: The Tromsø Study. (vitamindwiki.com)
  • Individual genetic variations lead to different responses of patients to a single treatment regimen. (researchsquare.com)
  • Therefore, knowing the genetic variations (polymorphisms) will be effective in predicting the response to treatment, and accordingly, we can determine which patients will benefit from chemo- or radiotherapy (Ansell et al. (researchsquare.com)
  • These data show, for the first time, that miRNA-related genetic variations may underlie the etiology of breast cancer in both populations of African and European ancestries. (cdc.gov)
  • 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)
  • Radical prostatectomy is a common treatment for localised prostate cancer with intermediate or high risk of disease progression. (biomedcentral.com)
  • HO-1 and their products exert beneficial effects through the protection against oxidative injury, regulation of apoptosis, modulation of inflammation as well as contribution to angiogenesis. (springer.com)
  • Apart from inhibiting the cholinesterase enzyme, OP compounds are believed to cause other pathological mechanisms at both the extracellular level (cholinergic, serotonergic, dopaminergic, glutamatergic, and GABAergic synapses) and the intracellular level (oxidative stress, mitochondrial dysfunction, inflammation, autophagy, and apoptosis) that contribute to these disorders. (bvsalud.org)
  • Autophagy also plays an important role in controlled cell death (apoptosis). (medlineplus.gov)
  • Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant. (medlineplus.gov)
  • Familial inheritance patterns of aneurysm development suggest a genetic component that is supported by genome-wide linkage studies. (basicmedicalkey.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 study we comprehensively assess the shared genetic basis of impaired lung function and lung cancer risk by conducting genome-wide association analyses in the UK Biobank cohort to identify genetic determinants of three pulmonary phenotypes, forced expiratory volume in 1s (FEV 1 ), forced vital capacity (FVC), and FEV 1 /FVC. (nature.com)
  • This is the largest genome-wide association study (GWAS) of a radiographic phenotype in lung disease and an important phenotype in COPD. (atsjournals.org)
  • There are a number of cases in which mutations of the modified sites were found to be involved in disease. (deepdyve.com)
  • Chris' primary research focus is on using experimental and clinical data to predict how heart cells, the engine of every heartbeat, respond to genetic mutations and to drugs. (swansea.ac.uk)
  • 2 Additional mutations at the +874 position were also associated with increased susceptibility stemming from unbound NF-kB that led to decreased macrophage activation by interferon-gamma. (tamhsc.edu)
  • These mutations correlated with increased susceptibility to tuberculosis through less robust macrophage clearance mechanisms. (tamhsc.edu)
  • 6 Consequently, genetic screening for these mutations and use of interferon-gamma supplementation treatment in those affected may offer potential future therapeutic treatments for the resolution of chronic tuberculosis infections and warrants further investigation. (tamhsc.edu)
  • We show that, in general, the prediction tools are able distinguish disease causing mutations from those mutations which are thought to have a neutral affect. (biomedcentral.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)
  • Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease. (nih.gov)
  • Genetic polymorphisms in GSTM1, -P1, -T1, and CYP2E1 and the risk of adult brain tumors. (cdc.gov)
  • Delta-aminolevulinic acid dehydratase polymorphism and risk of brain tumors in adults. (cdc.gov)
  • Sulfotransferase 1A1 (SULT1A1) polymorphism and susceptibility to primary brain tumors. (cdc.gov)
  • 2006) reported increased rates of brain tumors (gliomas and menigomas) in relation to genetic polymorphisms in the ALAD gene and lead exposure suggesting a need to take genetic inheritance of ALAD polymorphisms into account with respect to lead exposures and development of these types of cancer. (who.int)
  • In the past decade, there has been an increase in the number of lung cancer cases in young people, which suggests an important role for genetic background in the etiology of this disease. (scielo.br)
  • The etiology of initial aortic wall injury is unknown, but the combination of genetic polymorphism and environmental insult is probable. (basicmedicalkey.com)
  • In recent years, in addition to environmental factors, genetic factors have become a hot spot in the etiology of lung cancer. (jcancer.org)
  • To date, the main prognostic factor used in clinical practice is the tumor stage, yet several molecules and genetic alterations have also been introduced as potential markers. (iiarjournals.org)
  • However, the relationship between polymorphisms in the WDR4 gene and susceptibility to Wilms tumor remains to be fully investigated. (jcancer.org)
  • T polymorphism of the WDR4 gene was significantly associated with Wilms tumor. (jcancer.org)
  • This finding may contribute to the understanding of the genetic mechanism of Wilms tumor. (jcancer.org)
  • Therefore, improving the early diagnosis rate, chemotherapy drug sensitivity, reducing tumor recurrence, and improving disease prognosis are the focus of diagnosis and treatment research at the present stage [ 8 , 9 ]. (hindawi.com)
  • Genetic and epigenetic markers are associated with isocyanate -induced asthma and, before asthma develops, we have shown that genetic polymorphisms are associated with variation in plasma and urine biomarker levels in exposed workers. (cdc.gov)
  • The genetic and epigenetic mechanisms by which susceptibility to Mycobacterium tuberculosis increases and involves downregulation of macrophage activation will be explored. (tamhsc.edu)
  • 5 Additional epigenetic alterations were associated with altered tuberculosis susceptibility including hypermethylation at the -53 CpG site. (tamhsc.edu)
  • Sjögren's syndrome may be associated with other autoimmune diseases, including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) or systemic sclerosis. (wikipedia.org)
  • 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 protein functions of the predicted networks include keratinocyte migration, cell-cell adhesions, calcium transport, neurotransmitter release, nitric oxide production, and apoptosis regulation. (cdc.gov)
  • The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease. (nih.gov)
  • MicroRNAs (miRNAs), a class of small, endogenous, non-coding RNAs, are able to regulate gene expression by translational repression or mRNA degradation of the target, thereby affecting critical functions in various physiological processes, ranging from cell proliferation to apoptosis ( 8 , 9 ). (iiarjournals.org)
  • Moreover, some recent studies have demonstrated a relationship between the aberrant expression of miRNAs and CRC susceptibility, prognosis, and responsiveness to treatment ( 10 - 12 ). (iiarjournals.org)
  • We selected the polymorphisms of three widely studied miRNAs (miRNA-146a rs2910164, miRNA-499 rs3746444 and miRNA-196a2 rs11614913). (researchsquare.com)
  • Case control studies on the correlation between these three miRNAs and cervical cancer susceptibility were investigated by searching on from Pubmed, The Cochrane Library, Embase, CBM, CNKI, Wanfang database and VIP database. (researchsquare.com)
  • MicroRNAs (miRNAs) are a class of non-coding single-stranded RNA molecules with a length of about 22 nucleotides that regulate various intracellular activities such as cell proliferation, apoptosis and carcinogenesis [ 8 - 10 ] . (researchsquare.com)
  • Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous disorders inherited as autosomal dominant genetic syndromes. (medscape.com)
  • Due to their ability to modulate adaptive immunity, TLRs may serve as one of the promising strategic therapeutic targets for diseases related to inappropriate adaptive immune responses, such as sepsis, autoimmune disorders, cancer and allergies [ 27 ]. (biomedcentral.com)
  • Sjögren's syndrome is associated with a number of other medical conditions, many of which are autoimmune or rheumatic disorders, such as celiac disease, fibromyalgia, systemic lupus erythematosus (lupus), autoimmune thyroiditis, multiple sclerosis and spondyloarthropathy, and several malignancies, principally non-Hodgkin lymphoma. (wikipedia.org)
  • The cause of Sjögren's syndrome is unknown, but it may be the influence of a combination of genetic, environmental, and other factors, as is the case with many other autoimmune disorders. (wikipedia.org)
  • The observation of high rates of autoimmune disorders in families with a history of Sjögren's syndrome is linked with a genetic predisposition to the syndrome. (wikipedia.org)
  • Current studies have shown that VD deficiency is associated with many diseases, such as disorders of the immune, cardiovascular, respiratory, reproductive, and endocrine systems as well as malignancies such as prostate, colorectal, and breast cancers [ 6 , 7 ]. (hindawi.com)
  • Approximately 15% of patients diagnosed with AAA, unrelated to a concomitant connective tissue disorders, have a family history of the disease. (basicmedicalkey.com)
  • These compounds have been linked to an increased risk of neurological disorders, including neurodegenerative and neurodevelopmental diseases. (bvsalud.org)
  • Studies have shown that exposure to OP compounds can lead to the development of various neurological disorders, such as Alzheimer's disease (AD), Parkinson's disease (PD), attention deficit hyperactivity disorder (ADHD), autism, intellectual disability, and other developmental neurotoxicities. (bvsalud.org)
  • Abundant evidence indicates that immunodeficiencies are genetic or acquired disorders that predisposes an individual to cancer. (biomedcentral.com)
  • In order to explore the contribution of miRNA polymorphism to the occurrence and development of cervical cancer, we conducted an analytical study. (researchsquare.com)
  • Therefore, cervical cancer is an important disease endangering women's health and life [ 3 , 4 ] . (researchsquare.com)
  • In the process of continuous infection with the high-risk HPV until the development of cervical cancer, these women are also affected by environmental, genetic and other factors [ 7 ] . (researchsquare.com)
  • Role of IL17A rs2275913 and rs3748067 polymorphisms in the risk cervical cancer. (geneticsmr.com)
  • Aneurysmal degeneration of the aortic wall results from destruction of structural matrix proteins and apoptosis of medial smooth muscle cells (SMCs). (basicmedicalkey.com)
  • To identify genetic determinants of emphysema assessed through high-resolution chest computed tomography in individuals with COPD. (atsjournals.org)
  • familial data suggest that different components of COPD, such as emphysema, may be influenced by specific genetic factors. (atsjournals.org)
  • Constitutional host-related biological features, including genetic variation, have long been suspected to explain why some patients treated for CRC experience relapse while others do not, despite their having similar baseline characteristics. (iiarjournals.org)
  • The amino acid variation S326C of human OGG1 disrupts Ser-326 phosphorylation site and affects susceptibility to a variety of cancers [9]. (deepdyve.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)
  • At least one variation in the ATG16L1 gene is associated with an increased risk of Crohn's disease, particularly a form of the disorder that affects the lower part of the small intestine (the ileum) and the colon. (medlineplus.gov)
  • This genetic mutation is innate, and clinical symptoms appear early in life and continue over many years. (medscape.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)
  • A body of studies suggests the role of osteopontin (OPN) in onset and development of osteoarthritis (OA), however, the association between OPN polymorphisms and OA susceptibility as well as its clinical features has not been reported. (biomedcentral.com)
  • Similarly, the genetic association database (GAD) [ 13 ] has archived over 3,600 dbSNP and HGVBase entries that have reported disease associations from published clinical studies, although very few of these statistical associations are validated. (biomedcentral.com)
  • This finding suggests that the polymorphisms of GSTM1 and GSTO2 and also work place may act additively for developing cataract. (molvis.org)
  • Hypersensitivity pneumonitis was originally described in 1713 as an occupational lung disease in grain workers and later, in 1932, in farmers inhaling moldy hay contam- inated with thermophilic actinomyces, hence the term farmer's lung.1 With this recog- nition, modernization of farming methods has resulted in the reduction in farmer's lung prevalence estimated at 0.5% to 3% of exposed farmers in studies spanning from 1980 to 2003. (cdc.gov)
  • We carried out a case-control study to clarify whether the abovementioned genetic polymorphisms in the OPN gene are associated with the susceptibility and severity of OA in a Chinese cohort. (biomedcentral.com)
  • Many of the protein pathway functions overlap with previous findings on genetic markers associated with variability both in isocyanate biomarker levels and asthma susceptibility, which suggests there are overlapping protein pathways that contribute to both isocyanate toxicokinetics and toxicodynamics. (cdc.gov)
  • 2008) has reported the results of multi-plex genotyping as a biomarker of susceptibility to carcinogenic exposures. (who.int)
  • The risk of developing SLE is at least in part genetic, but it is a complex genetic illness with no clear mendelian pattern of inheritance. (medscape.com)
  • The importance of these data rests with a better understanding of the relationship between genetic inheritance, lead exposure and risk of cancer. (who.int)
  • The capability to regenerate and remodel the extracellular matrix during ongoing proteolytic destruction may therefore be limited by the depletion of SMCs, resulting in end-stage disease and rupture. (basicmedicalkey.com)
  • Genetic polymorphisms in extracellular superoxide dismutase Leu53Leu, Arg213Gly, and Ala40Thr and susceptibility to type 2 diabetes mellitus. (geneticsmr.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)
  • Lan X, Li Y, Wu Y, Li X, Xu L. The Association of ERCC1 and ERCC5 Polymorphisms with Lung Cancer Risk in Han Chinese. (jcancer.org)
  • Therefore, we examined the association between TLR3 gene polymorphisms and NPC susceptibility. (biomedcentral.com)
  • The TLR3 polymorphisms may be relevant to NPC susceptibility in the Cantonese population, although the reduction in NPC risk is modest and the biological mechanism of the observed association merits further investigation. (biomedcentral.com)
  • Here, we studied the association of VDR polymorphisms (FOKI, BsmI, ApaI, and TaqI) in HPV16-positive cervical intraepithelial neoplasia (CIN)2+ patients. (hindawi.com)
  • Association between interleukin-4 polymorphisms and risk of pre-eclampsia in a population of Chinese pregnant women. (geneticsmr.com)
  • See also the 2019 American Association for the Study of Liver Disease's practice guidelines for Alcohol-Associated Liver Disease . (msdmanuals.com)
  • The geographical pattern of incidence suggests a unique interaction of environmental and genetic factors. (biomedcentral.com)
  • This meta-analysis demonstrates that within the Caucasian population, the NLRP1 rs12150220 polymorphism may correlate with a decreased risk of vitiligo-associated autoimmune diseases, especially autoimmune Addison's disease, type 1 diabetes, or systemic lupus erythematosus. (oncotarget.com)
  • Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. (cancerindex.org)
  • Knockdown of CASP5 greatly inhibited GBM proliferation and resulted in G1 cell cycle arrest along with higher apoptosis ratios in vitro and in vivo, while overexpression led to the opposite phenomenon. (cancerindex.org)
  • Knowledge of the three dimensional structure of a gene product is of major assistance in predicting and understanding its function, its role within the cell and its role in disease. (biomedcentral.com)
  • The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)
  • Tumour growth results from an imbalance between cell proliferation and apoptosis. (biomedcentral.com)
  • On the one hand, ROS induced the formation of lipid peroxidation products and led to hair cell apoptosis [ 23 ]. (biomedcentral.com)
  • Hypersensitivity pneumonitis, also known as extrinsic allergic alveolitis, is an uncommon non-immunoglobulin E (IgE), T-helper cell type 1 (Th1)-mediated inflam- matory pulmonary disease with systemic symptoms resulting from repeated inhalation and subsequent sensitization to a large variety of aerosolized antigenic organic dust particles. (cdc.gov)
  • These cell components and bacteria may trigger an inappropriate immune system response, leading to chronic inflammation in the intestinal walls and the digestive problems characteristic of Crohn's disease. (medlineplus.gov)
  • Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties. (xenbase.org)
  • Background: Besides its role in calcium homeostasis and bone mineralization, vitamin D may also reduce the risk of cancer, cardiovascular and autoimmune diseases. (biolifesas.org)
  • Breast cancer is the most common form of malignancy among women in the United States with 211,240 new cases and 40,410 deaths from the disease anticipated in 2005 ( 1 ). (aacrjournals.org)
  • Estimation of the level of genetic susceptibility showed that the individual calculated risk value (iCRV) ranged from 1 to 16, with a higher iCRV indicating a greater genetic susceptibility to lung cancer. (scielo.br)
  • Vitamin D receptor (VDR) gene polymorphism is considered to be an important cause of cancer development. (hindawi.com)
  • Immunodeficiencies are genetic diseases known to predispose an individual to cancer owing to defective immunity towards malignant cells. (biomedcentral.com)
  • CDK2AP1 expression in disease-free patients at 10 years was more than threefold that of patients who died of breast cancer. (cancerindex.org)
  • Impaired lung function is often caused by cigarette smoking, making it challenging to disentangle its role in lung cancer susceptibility. (nature.com)
  • Lung cancer and obstructive pulmonary disease share multiple etiological factors, such as cigarette smoking, occupational inhalation hazards, and air pollution, and 50-70% of lung cancer patients present with co-existing COPD or airflow obstruction 6 . (nature.com)
  • Furthermore, reverse causality remains a concern since pulmonary symptoms may be early manifestations of lung cancer or acquired lung diseases in patients whose immune system has already been compromised by undiagnosed cancer. (nature.com)
  • Disentangling the role of pulmonary impairment in lung cancer development is important from an etiological perspective, for refining disease susceptibility mechanisms, and for informing precision prevention and risk stratification strategies. (nature.com)
  • The present study is aimed at exploring whether rs3213172, rs3213173, and rs3213176 polymorphisms of the E2F1 gene confer risk for ovarian cancer. (hindawi.com)
  • E2F1 gene rs3213173 and rs3213176 polymorphisms confer no risk to ovarian cancer risk. (hindawi.com)
  • So far, the studies which explore the relationship between the E2F1 polymorphisms and ovarian cancer susceptibility are rare. (hindawi.com)
  • The present study is to explore whether E2F1 gene polymorphisms confer risk for ovarian cancer. (hindawi.com)
  • In 2011, an estimated 230,480 new cases of breast cancer were diagnosed in women, and an estimated 39,520 women died from the disease [1]. (cdc.gov)
  • The disparities in breast cancer incidence and survival between AA and EA populations have been attributed to several factors, including disease management, access to proper care, and biological influences. (cdc.gov)
  • 4 Decreased interferon-gamma levels have been found to correlate with increased tuberculosis susceptibility. (tamhsc.edu)
  • The fasting blood samples were collected and VDR polymorphisms were detected using TaqMan fluorescent probes, and the three sites of BsmI-ApaI-TaqI were subjected to haplotype analysis. (hindawi.com)
  • It would be an advantage if the functional effects of an nsSNP on protein structure and function could be predicted, both for the final identification process of a causal variant in a disease-associated chromosome region, and in further functional analyses of the nsSNP and its disease-associated protein. (biomedcentral.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)
  • 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)
  • Sjögren syndrome or Sjögren's syndrome (SjS, SS) is a long-term autoimmune disease that affects the body's moisture-producing glands (lacrimal and salivary), and often seriously affects other organ systems, such as the lungs, kidneys, and nervous system. (wikipedia.org)
  • Sjögren's syndrome can damage vital organs, with symptoms that may plateau or worsen, or go into remission, as with other autoimmune diseases. (wikipedia.org)
  • Our findings provide a link between perturbations in DC development and susceptibility to a broad spectrum of PTPN22 R620W associated human autoimmune diseases. (frontiersin.org)
  • Here, we studied the associations between rs12150220, rs2670660, and rs6502867 of NLRP1 gene and the risks of vitiligo or associated autoimmune diseases via meta-analysis. (oncotarget.com)
  • According to Global Burden of Disease study 2019 (GBD2019), about 5% (1,456,662,173 people) of the world's population is suffering from hearing impairment [ 1 ], with a years lived with disability (YLDs) of 43.45 million, among which 7 million were attributable to occupational noise exposure [ 2 ]. (biomedcentral.com)
  • 1976. Combination of genetic factors and chronic exposure to benzene in the aetiology of leukaemia. (cdc.gov)