• No significant differences in the allelic or genotypic distribution between schizophrenics and controls were observed. (nature.com)
  • A chi-square test was performed to determine the differences in genotype and allelic frequencies between TMD patients and healthy subjects. (biomedcentral.com)
  • Conclusion: We found significant differences in genotypic and allelic frequencies between PCa patients and controls for eNOS T-786C and G894T polymorphisms. (cumhuriyet.edu.tr)
  • The allelic frequencies and genotypic distributions in patients were very similar to those found in controls. (ox.ac.uk)
  • Allelic and genotypic frequencies of NOD2/CARD15 variations were calculated in patients and matched with those of 25 healthy controls. (biomedcentral.com)
  • We explored whether allelic variants of the GSTM1, GSTT1, CYP450 (rs4646903 and rs1048943), and TP53 (rs1042522) genes predisposed nonsmoking Saudi individuals to increased risk for CRC. (omicsdi.org)
  • Seven single-nucleotide polymorphisms (SNPs) were analyzed in 500 histopathologically confirmed oral cancer samples and 500 long-term tobacco users (LTTUs) as controls using allelic discrimination real-time polymerase chain reaction or high-resolution melting analysis. (brjnmims.org)
  • For this purpose, we genotyped exon2, exon5 ( C540T and C588T ), exon7 ( T813C ), exon8 ( K289M ), and exon9 of GABRG2 gene by restriction fragment length polymorphism and Sanger's sequencing in 87 drug-responsive idiopathic generalized epilepsy patients, 55 drug-resistant epilepsy patients, and 83 healthy controls. (hindawi.com)
  • C gene polymorphism confers an increased risk for subclinical atherosclerosis and CV events in patients with RA. (biomedcentral.com)
  • No association was found between intron 4 VNTR polymorphism and PCa patients. (cumhuriyet.edu.tr)
  • Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. (scirp.org)
  • Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
  • In this work we proposed to study the role of genetic polymorphism of the eNOS G894T gene in the development of diabetes on the one hand and of these degenerative complications other. (scirp.org)
  • For each patient and control we measured lipid parameters, CRP-us and sought the G894T polymorphism of eNOS gene by PCR-RFLP. (scirp.org)
  • Conclusion: The G894T polymorphism of eNOS gene appears to be a risk factor of T2DM. (scirp.org)
  • Results: The genotypic distribution of the polymorphism was within the Hardy-Weinberg equilibrium. (sagepub.com)
  • The-174 G/C IL-6 gene promoter region single nucleotide polymorphism (SNP) may influence or modulate gene function and/or transcriptional efficiency. (proteasomesignal.com)
  • The current study was aimed to evaluate the association between IL-6 gene -174 G/C promoter polymorphism and Polycystic Ovary Z-DEVD-FMK nmr Syndrome in South Indian women. (proteasomesignal.com)
  • Specifically, patients with LMCAD and B1B1 genotype of TaqIB polymorphism were more frequent present compared to Controls (33.8% vs 22.9%, respectively). (biomedcentral.com)
  • The relationship between TaqIB gene polymorphism and the LMCAD was independent of lipid profile, with the exception of apolipoprotein A. (biomedcentral.com)
  • We recruited 311 T2DM patients and 346 healthy controls and compared them on the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), serum BDNF levels, and the BDNF Val66Met polymorphism. (oncotarget.com)
  • Single nucleotide polymorphism rs20173618 is located in the exon 1 of the OPG gene. (jcpsp.pk)
  • The purpose of this case-control research is to determine if GABRG2 polymorphisms contribute to IGE susceptibility and antiepileptic drug resistance in Pakistani population. (hindawi.com)
  • A case-control study was designed to evaluate the impact of genetic polymorphisms above described on TMD. (biomedcentral.com)
  • C gene polymorphisms to the susceptibility to rheumatoid arthritis (RA). (biomedcentral.com)
  • We also assessed whether these two MTHFR gene polymorphisms may be implicated in the development of cardiovascular (CV) events and subclinical atherosclerosis manifested by the presence of endothelial dysfunction, in a series of Spanish patients with RA. (biomedcentral.com)
  • No significant differences in allele or genotype frequencies for the MTHFR gene polymorphisms between RA patients and controls were found. (biomedcentral.com)
  • Background/aim: The purpose of the present study was to investigate whether endothelial nitric oxide synthase (eNOS) gene polymorphisms play a role in prostate cancer (PCa). (cumhuriyet.edu.tr)
  • Materials and methods: We examined three eNOS gene polymorphisms (T-786C promoter region, G894T, and Intron 4 VNTR 4a/b) at extracted DNAs from 50 formalin-fixed paraffin-embedded tissues of PCa patients. (cumhuriyet.edu.tr)
  • Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
  • The eNOS gene has several single nucleotide polymorphisms reported, one of which is G894T. (scirp.org)
  • Carcinogen Metabolism Pathway and Tumor Suppressor Gene Polymorphisms and Gallbladder Cancer Risk in North Indians: A Hospital-Based Case-Control Study. (omicsdi.org)
  • BACKGROUND:Carcinogen metabolism pathway and tumor suppressor gene polymorphisms have been reported to be associated with increased gallbladder cancer risk. (omicsdi.org)
  • We examined whether genetic polymorphisms of metabolic enzymes cytochrome P450 1A1 and glutathione S-transferase and tumor suppressor gene p53 (TP53) are associated with an increased risk of gallbladder cancer in North Indians. (omicsdi.org)
  • Previous studies have noted a specific association between type 1 diabetes and insufficient levels of vitamin D, as well as polymorphisms within genes related to vitamin D pathways. (diabetesjournals.org)
  • It is noteworthy that no differences in genotype frequencies of the VDBP polymorphisms were associated with serum VDBP levels or between type 1 diabetic patients and control subjects. (diabetesjournals.org)
  • The DNA of 471 subjects [133 subjects with angiographically documented left main coronary artery disease (LMCAD), 241 subjects with more peripheral coronary artery disease (MPCAD) and 97 subjects self reported healthy (Controls)] was analyzed for the frequency of TaqIB and I405V polymorphisms in the gene coding CETP. (biomedcentral.com)
  • Thus the studies evaluating the influence of CETP gene polymorphisms in humans are essential. (biomedcentral.com)
  • The purpose of this study was to evaluate association profiles of lysyl oxidase-like 1 ( LOXL1 ) gene polymorphisms with pseudoexfoliation syndrome (XFS) in a Korean population. (molvis.org)
  • Genotypes of three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing, and a case-control association study was performed. (molvis.org)
  • 336 women with cervical intraepithelial neoplasia (CIN), 488 women with cervical cancer (CC), and 682 healthy controls were recruited to detect polymorphisms in the CCR5 promoter using a sequencing method. (biomedcentral.com)
  • Thus, the present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations. (spandidos-publications.com)
  • The present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations. (spandidos-publications.com)
  • and determined concordance between phenotypic and genotypic resistance. (who.int)
  • Concordance between phenotypic and genotypic resistance was 93.27% overall for six antibiotics in three classes, but varied among aminoglycosides. (who.int)
  • Three mutant alleles M1, M2, and M3 of NAT-2 were investigated in 80 patients with idiopathic Parkinson's disease and 161 age matched randomly selected controls from a prospective population based cohort study. (ox.ac.uk)
  • In controls the frequency of the wild type allele increased significantly with age suggesting that the mutant alleles are associated with an increased risk of mortality. (ox.ac.uk)
  • Notably, statistical estimates indicate that a genomic data set of 10,000 individuals will be sufficient to capture essentially all common alleles (ie more than 1% allele frequency) in our Singapore population. (a-star.edu.sg)
  • In this study, we investigated the genetic association of the MnSOD allele with schizophrenia and TD in a Japanese sample through case-control studies. (nature.com)
  • The present study aims to identify discrete inference of FTO alpha-ketoglutarate dependent dioxygenase gene linkage disequilibrium block SNPs rs9940128 and rs9939609 as prognostic genetic elements in defining the disease course either as BrC or NIDDM in Pakistani population. (bvsalud.org)
  • Folate metabolism, which depends on genes variations and diet, is directly involved in genetic and epigenetic variations that can influence the changes of last growing period of development in human and the appearance of the TMD. (biomedcentral.com)
  • Conclusion: This is the first molecular genetic study of CBS gene dealing with T833C/844ins68 double mutation in MR subjects. (sagepub.com)
  • Risk of Colorectal Carcinoma May Predispose to the Genetic Variants of the GST, CYP450 , and TP53 Genes Among Nonsmokers in the Saudi Community. (omicsdi.org)
  • Several candidate genes and genetic variants have been associated with morbidity and mortality among patients with CRC. (omicsdi.org)
  • The SG10K_Health project is a multi-institutional initiative developing an 'all-of-Singapore' coordinated approach to precision medicine (PM). PM is a fast emerging field that seeks to improve treatment and prevent disease by considering individual and population genetic variation in genes, environment and lifestyle patterns. (a-star.edu.sg)
  • The current lack of large-scale control databases of Asian-specific genetic variation linked to clinical phenotypes is a significant barrier to the conduct of PM in Asia, to avoid mis-diagnosis and overtreatment due to the mistaken identification of pathogenic variants. (a-star.edu.sg)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • Mutations in ion channel genes have been identified as a common cause of IGE. (hindawi.com)
  • Less severe elevations of homocysteine levels are more commonly observed as a result of heterozygous mutations of these enzymes, dietary deficits of folate or vitamin B 12 , or in patients with liver disease or decreased renal function [ 6 ]. (biomedcentral.com)
  • Evolution of lung damage is highly variable in cystic fibrosis (CF) even in patients with the same cystic fibrosis transmembrane conductance regulator (CFTR) mutations. (nih.gov)
  • φX174 HaeIII digest showing bands at 310, 281, 234,194 and 118 respectively, lane 4 = BsrI digestion of heterozygous The human CBS gene, located at 21q22.3 [6], is known to PCR product (of lane 2), showing complete digestion of the have a large number of mutations, the majority of which higher allele of 239 bp into 130 bp and 109 bp. (sagepub.com)
  • NOD2/CARD15 gene mutations are responsible for the Blau Syndrome and can induce uveitis in animal models. (biomedcentral.com)
  • Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl‑tRNA synthetase 2 (RARS2) gene. (spandidos-publications.com)
  • GABRG2 , a highly expressed gene in brain, resides on chromosome 5q34. (hindawi.com)
  • The CETP gene is located on chromosome 16q21. (biomedcentral.com)
  • The gene is part of a cluster of MMP genes on chromosome 11. (cancerindex.org)
  • OPG gene is located at 8q24.12 position on the long arm of chromosome 8. (jcpsp.pk)
  • Moreover, patients carrying the MTHFR 1298 AC and CC genotypes had a significantly decreased flow-mediated endothelium-dependent vasodilatation (4.3 ± 3.9%) compared with those carrying the MTHFR 1298 AA genotype (6.5 ± 4.4%) ( P = 0.005). (biomedcentral.com)
  • The mutated genotypes of GT eNOS gene was significantly more frequent in diabetic patients. (scirp.org)
  • CC, CG, and GG genotypes were found to be present in 94%, 4%, and 2% in diabetics without retinopathy, 92%, 4%, and 4% in diabetics with retinopathy, respectively, and 100% presence of CC genotype only in healthy controls. (jcpsp.pk)
  • Variability of the promoter region of CCR5 gene might be the reason for differing CCR5 expression levels. (biomedcentral.com)
  • The main objective of the study was to determine the G894T SNP in the eNOS gene such as risk factor for T2DM in Tunisian population. (scirp.org)
  • In our cohort of Italian patients, the NOD2/CARD15 common variant P268S/SNP5 could potentially be significantly associated with ACU. (biomedcentral.com)
  • This project will focus on developing regulatory network inference methods for the joint analysis of gene expression and histone modification data from several different types of tumor infiltrating lymphocytes, which are gathered from a cohort of patients with solid tumors. (ucsd.edu)
  • Several studies have reported various epilepsy risk variants of GABRG2 ( gamma-aminobutyric acid type A receptor subunit gamma2 subunit ) gene in different ethnic groups, but the results are inconsistent. (hindawi.com)
  • Seizures, epileptogenesis, and epilepsy are all influenced by genes and their variants on numerous levels. (hindawi.com)
  • Aim of our study was to assess if NOD2/CARD15 variants have a role in the etiology or in the clinical course of patients with ACU, either idiopathic or associated with other inflammatory diseases. (biomedcentral.com)
  • Widely studied CETP variants is a silent base change called the Thermobius aquaticus IB (TaqIB) affecting the 277th nucleotide in the first intron of the CETP gene [ 18 ]. (biomedcentral.com)
  • A gene expression dataset of breast cancer patients was used to construct a network identifying key regulators in breast cancer. (bvsalud.org)
  • We have established various web services to enable users to query the SG10K_Health dataset, including allele frequencies, protein-drug interactions, imputation and polygenic risk scores. (a-star.edu.sg)
  • 0.05) of RBANS were markedly decreased in T2DM compared with healthy controls. (oncotarget.com)
  • The haplotype and LD studies of the FN1 gene revealed that the identified variations rs6707530 and rs1250248 may both cause TB, and endometriosis respectively. (bvsalud.org)
  • Interethnic differences in SNP and haplotype frequencies might explain the unpredictability in association studies and may contribute to predicting the pharmacokinetics and pharmacodynamics of drugs using FN1. (bvsalud.org)
  • This report presents the status of AMR in Africa by analysing the main types of resistance and the underlying genes where possible. (who.int)
  • This study aimed to assay the prevalence of common β-lactam resistance genes including bla TEM , bla SHV , bla CTX-M and bla CMY and phenotypic resistance to commonly used β-lactam and fluoroquinolone antibiotics in UTIs. (biomedcentral.com)
  • Real-time PCR was applied to detect β-lactam resistance genes and conventional PCR was used to determine the phylotypes. (biomedcentral.com)
  • The prevalence of resistance genes were 89.6% for bla TEM , 44.3% for bla CTX-M , 6.6% for bla SHV and 0.9% for bla CMY . (biomedcentral.com)
  • In addition, long-read sequencing of one representative XDR ST235 isolate identified an integron carrying multiple resistance genes (including bla VIM-2), with differences in gene composition and synteny from the P. aeruginosa class 1 integrons described previously. (who.int)
  • The frequency of the 894T allele was significantly higher in PCa patients. (cumhuriyet.edu.tr)
  • However, we did find a significant difference in genotypic distribution between schizophrenics with and those without TD (p = .03). (nature.com)
  • Results: The analysis of our results shows a statistically significant elevated TG values (p ﹣3 ), Lp (a) (p ﹣3 ), and CRP-us (p ﹣3 ) in type 2 diabetes compared with controls. (scirp.org)
  • In our series, we did not notice any significant difference in genotype or allele frequency between diabetics with and without degenerative complications. (scirp.org)
  • Homozygosity of Pro72 conferred a significant double risk in cases compared with controls (30.8% versus 15.4%), but the homozygote Arg/Arg had no effect on risk. (omicsdi.org)
  • The genotypic frequencies in the cases were not similar to that of the controls, differences being statistically significant ( P = 0.002). (biomedcentral.com)
  • There is no significant difference in CETP allele frequency or genotype distribution among LMCAD and MPCAD patients although there is statistical difference between LMCAD and Controls (p = 0.001). (biomedcentral.com)
  • The genotypic assessment using the models showed no significant association. (jcpsp.pk)
  • SNP rs2073618 of OPG gene was identified in all study groups without any significant distribution or association with the development of diabetic retinopathy. (jcpsp.pk)
  • There was no significant association between the genotype frequencies of the three SNPs and the XFS phenotypes. (molvis.org)
  • DNA from buccal cells of 158 participants (80 with CRC and 78 healthy controls) were analyzed for five SNPs using conventional PCR and TaqMan genotyping assays. (omicsdi.org)
  • Thus, the present study was designed to confirm the association of three SNPs in the LOXL1 gene with XFS in a Korean population and to compare results to previous studies of other ethnic groups. (molvis.org)
  • Diabetes constitutes one of the major independent cardiovascular risk factors, and patients with this disease suffer from premature cardiovascular morbidity and mortality. (scirp.org)
  • Voltage-gated and ligand-gated are key ion channel genes that have been linked to distinct epilepsy phenotypes [ 9 ]. (hindawi.com)
  • Genotype frequencies of each SNP were compared according to the XFS phenotypes. (molvis.org)
  • Methods: We conducted a prospective case-control study in which we inclu ded 200 subjects divided into 100 patients with type 2 diabetes and 100 controls in apparent good health. (scirp.org)
  • METHODS:This hospital-based case-control study was conducted in 96 gallbladder cancer patients with gallstones (cases) and 93 cholelithiasis patients (controls) at the Sanjay Gandhi Postgraduate Institute of Medical Sciences in Lucknow, India from July 2014 through May 2017. (omicsdi.org)
  • We develop methods that are based in statistics, machine learning, optimization and graph theory to understand how changes in the 3D genome affect cellular outcome such as development, differentiation and gene expression. (ucsd.edu)
  • The SNP most significantly associated with RBA is located in MAPT gene. (nature.com)
  • Moreover, serum BDNF was positively associated with delayed memory among Met homozygote patients ( β = 0.29, t = 2.21, p = 0.033), while serum BDNF was negatively associated the RBANS total score ( β = -0.92, t = -3.40, p = 0.002) and language index ( β = −1.17, t = -3.54, p = 0.001) among Val homozygote T2DM patients. (oncotarget.com)
  • The TNF-α protein induces the expression of adhesion molecules, facilitating the invasion of metastatic tumor cells [ 5 ], and high levels of endogenous TNF-α have been observed in the blood of some cancer patients. (biomedcentral.com)
  • The ε4 allele of the Apolipoprotein E (APOE) gene in individuals infected by Herpes simplex virus type 1 (HSV-1) has been demonstrated to be a risk factor in Alzheimer's disease (AD). (j-alz.com)
  • As a result of selecting the genes with the highest degree from the BC network and tracing them, three of them were identified as novel key regulators, since they were involved at all network levels, thus serving as the backbone. (bvsalud.org)
  • The goal of this project is to model the natural variation in gene expression across many immune cell types using an already established database at LJI ( https://dice-database.org ) and to identify cell type-specific epigenetic regulators of important immune genes. (ucsd.edu)
  • Genomic DNA was taken from buccal cells of 52 patients with UBC and 104 controls for genotyping of GSTT1, GSTM1, rs4646903, rs1048943, TP53 rs1042522, rs1801133, and rs1801394 using PCR and TaqMan® assays. (omicsdi.org)
  • This case―control study was conducted on 200 subjects divided in two groups, the first group is composed of 100 diabetic patients hospitalized in Endocrinology and Diabetology department of Military Hospital of Tunis in period between February and October 2017. (scirp.org)
  • A retrospective, cross-sectional analysis of VDBP levels used samples from 472 individuals of similar age and sex distribution, including 153 control subjects, 203 patients with type 1 diabetes, and 116 first-degree relatives of type 1 diabetic patients. (diabetesjournals.org)
  • In addition, SNP analysis of a second sample set of banked DNA samples from 1,502 type 1 diabetic patients and 1,880 control subjects also was used to determine genotype frequencies. (diabetesjournals.org)
  • To identify and determine the association of SNP (rs2073618) of OPG gene in diabetics with and without retinopathy and in healthy controls. (jcpsp.pk)
  • CSF lipid peroxidation was increased in patients taking phenothiazine. (nature.com)
  • 86 were patients with TMD and 143 were healthy control subjects. (biomedcentral.com)
  • Hundred and thirty- eight control subjects, two hundred and sixty-seven parents of MR probands and thirty cardiovascular disorder (CVD) patients were included for comparison. (sagepub.com)
  • P = 0.003 vs. control subjects). (diabetesjournals.org)
  • A total of 110 Korean patients with XFS and 127 control subjects were included in this study. (molvis.org)
  • In the LMCAD group the frequency of B1 allele compared to Controls was higher (62% vs 46%, respectively, p = 0.001). (biomedcentral.com)
  • A slightly increased genotypic frequency was observed in the Indian control population as compared to other Asian populations. (sagepub.com)
  • The present case-control study was conducted in a Han Chinese population consisting of 753 HCC patients and 760 controls from May 2010 to March 2013. (biomedcentral.com)
  • At present, the Asian population is severely under-represented in the public genotypic databases. (a-star.edu.sg)
  • Le risque peut être considérable en raison de leurs courtes périodes de virémie asymptomatique dans la population dont l'incidence est variable et parfois extrêmement élevée. (bvsalud.org)
  • Recent study suggests that brain-derived neurotrophic factor (BDNF) is correlated with cognitive deficits in T2DM patients. (oncotarget.com)
  • BDNF gene Val66Met variation may be associated with cognitive deficits in T2DM, especially with delayed memory. (oncotarget.com)
  • Per copy frequency of T allele (Val) was found to be 0.14 in cases versus 0.19 in controls (p (scirp.org)
  • 1 Eight Asian countries reported frequencies found that 37% of the carbapenem prescriptions were of isolation of Pseudomonas spp. (who.int)
  • Patients with rheumatoid arthritis (RA) have increased risk of cardiovascular (CV) disease due to accelerated atherosclerosis [ 1 ]. (biomedcentral.com)
  • Thus, the LM stenosis localized patients at the higher risk of cardiovascular events because of the extent of jeopardized myocardium and, therefore, has been considered as the most prognostically important coronary lesion. (biomedcentral.com)
  • What does this gene/protein do? (cancerindex.org)
  • 8 OPG protein is secreted under the control of OPG gene. (jcpsp.pk)
  • 1 However, a study evaluating tract infections), particularly in immunocompromised carbapenem restriction practices at a hospital in Manila patients. (who.int)
  • one patient carried also the variant c647 18-16 TCT on intron 3, not previously reported in the literature. (biomedcentral.com)
  • All under-five children with suspected meningitis over the 10-years period were included and descriptive statistics like frequency, percentage, mean, median and standard deviations were used for the characteristics of under-five Children with Suspected Bacterial Meningitis. (bvsalud.org)
  • The present case-control study consisted of 753 HCC patients and 760 cancer-free controls from May 2010 to March 2013 at the Digestive Disease Department, Shandong Provincial Hospital Affliated to Shandong University. (biomedcentral.com)
  • In addition, feeding difficulties have been suggested a prominent problem in the patients with PCH6 ( 1 - 6 , 8 , 11 ) and some cases have been diagnosed with gastroesophageal reflux ( 3 , 6 ). (spandidos-publications.com)