Search results for "single-nucleotide polymorphism"

showing 10 items of 501 documents

Interleukin-10 promoter polymorphism in sporadic Alzheimer's disease.

2003

Proinflammatory cytokines and acute-phase proteins play an important role in Alzheimer's disease (AD) neurodegeneration, and common polymorphisms of genes controlling their high production have been shown to be associated with AD. Thus, AD patients display a proinflammatory genotype and the control of inflammation might play a protective role in AD development. By sequence-specific probes, we have evaluated the role of anti-inflammatory cytokine interleukin(IL)-10 in AD, by analysing in 132 AD patients and 213 healthy controls the prevalence of three different haplotypes, involving three single-nucleotide polymorphisms (SNPs) at -1082 (G--A), -819 (C--T) and -592 (C--A) nucleotides of IL-10…

GeneticsInflammationImmunologyHaplotypeInterleukinSingle-nucleotide polymorphismBiologyProinflammatory cytokineInterleukin-10Interleukin 10Alzheimer DiseaseImmunologyGenotypeGeneticsSNPHumansAllelePromoter Regions GeneticGenetics (clinical)Genes and immunity
researchProduct

Molecular markers for systematic identification and population genetics of the invasive Ponto-Caspian freshwater gammarid Dikerogammarus villosus (Cr…

2006

The Ponto-Caspian amphipod, Dikerogammarus villosus, is an invasive species of many European rivers. First, we show that size difference of nrDNA ITS1 allows discriminating D. villosus from Dikerogammarus bispinosus, a closely related but morphologically hardly distinguishable species. Second, we present two types of polymorphic markers for D. villosus, three microsatellites and two single nucleotide polymorphisms (SNPs) of mtDNA COI gene, which were scored by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP). These markers will be very useful in studying population genetics of D. villosus.

GeneticsMitochondrial DNAAmphipodaEcologybiologyZoologyPopulation geneticsDikerogammarus villosusSingle-nucleotide polymorphismSingle-strand conformation polymorphismbiology.organism_classificationBiochemistrynrDNA-ITS1General Biochemistry Genetics and Molecular BiologymicrosatellitesSSCP[ SDV.EE.ECO ] Life Sciences [q-bio]/Ecology environment/Ecosystemsinvasive speciesCOI[ SDV.GEN.GPO ] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]Genetic markerMicrosatelliteComputingMilieux_MISCELLANEOUS[ SDV.BID.SPT ] Life Sciences [q-bio]/Biodiversity/Systematics Phylogenetics and taxonomy
researchProduct

Genome-wide significant association with seven novel multiple sclerosis risk loci

2015

Objective A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data in sufficiently sized and independent data sets are needed to assess whether these loci represent genuine MS risk factors. Methods The lead SNPs of all 11 loci were genotyped in 10 796 MS cases and 10 793 controls from Germany, Spain, France, the Netherlands, Austria and Russia, that were independent from the previously reported cohorts. Association analyses were performed using logistic regression based on an additive model. Summary effect size estimates were calculated using fixed-effect meta-analysis. Results…

GeneticsMultiple SclerosisMultiple sclerosisCase-control studySingle-nucleotide polymorphismLocus (genetics)Genome-wide association studyBiologymedicine.diseaseLogistic regressionPolymorphism Single NucleotideGene FrequencyGenetic LociRisk FactorsCase-Control StudiesGeneticsmedicineHumansGenetic Predisposition to DiseaseAllele frequencyGenetics (clinical)Genome-Wide Association StudyGenetic association
researchProduct

Analysis of interleukin 10 (IL-10) -1082G/A single nucleotide polymorphism (SNP) genotypes in breast cancer (BC) patients (pts) and in >95 years o…

2005

9656 Background:the anti-inflammatory IL-10 -1082 (G/A) SNP might be associated with different risk for breast tumor development. The -1082GG homozygous genotype is associated with an higher IL-10 ...

GeneticsOncologyCancer Researchmedicine.medical_specialtybusiness.industryHomozygous genotypeCancer-FreeSingle-nucleotide polymorphismmedicine.diseaseBreast tumorInterleukin 10Breast cancerOncologyInternal medicineGenotypemedicineSNPbusinessJournal of Clinical Oncology
researchProduct

A combined genome-wide approach identifies a new potential candidate marker associated with the coat color sidedness in cattle

2019

Abstract Coat color is one of the most important phenotypic features in livestock breeds. Cinisara is a local cattle breed generally of uniform black color which occasionally presents a particular phenotype, with animals typically display a white band along their spine, from the head to the tail, and on the ventral line (color sidedness). Therefore, this breed provides an ideal model to study the genetic components underlying phenotypic variation in coat color. A total of 63 animals, ten with sidedness phenotype and 53 with uniform black color were genotyped with Illumina Bovine 50 K. The comparison among genome-wide association study and FST analysis revealed a single nucleotide polymorphi…

GeneticsPLK2 geneCandidate geneCoatGeneral VeterinarySingle-nucleotide polymorphismBiologyCoat colorPhenotypeGenomeSTSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoFCoat color GWAS F-ST cattle PLK2 geneGWASSNPCattleAnimal Science and ZoologyGenetic variabilitySettore SECS-S/01 - StatisticaGeneLivestock Science
researchProduct

Cis-epistasis at the LPA locus and risk of cardiovascular diseases.

2022

AIMS Coronary artery disease (CAD) has a strong genetic predisposition. However, despite substantial discoveries made by genome-wide association studies (GWAS), a large proportion of heritability awaits identification. Non-additive genetic-effects might be responsible for part of the unaccounted genetic variance. Here we attempted a proof-of-concept study to identify non-additive genetic effects, namely epistatic interactions, associated with CAD. METHODS AND RESULTS We tested for epistatic interactions in ten CAD case-control studies and UK Biobank with focus on 8,068 SNPs at 56 loci with known associations with CAD risk. We identified a SNP pair located in cis at the LPA locus, rs1800769 …

GeneticsPhysiologyMedizinEpistasis GeneticSingle-nucleotide polymorphismLocus (genetics)Genome-wide association studyCoronary Artery DiseaseBiologyPolymorphism Single NucleotideMinor allele frequencyCardiovascular DiseasesStatistical Genetics ; Epistasis ; Coronary Artery Diseases ; LpaPhysiology (medical)Genetic predispositionHumansAdditive genetic effectsEpistasisGenetic Predisposition to DiseaseCardiology and Cardiovascular MedicineGenome-Wide Association StudyLipoprotein(a)Genetic association
researchProduct

A multiplex SNP typing approach for the DNA pyrosequencing technology

2006

Abstract We have developed a multiplex Pyrosequencing assay which enables the simultaneous analyses of 23 single nucleotide polymorphisms (SNPs) from the human genome selected by the SNPforID Consortium. In our investigations we have studied the multiplex capacity of the PSQ™ 96MA instrument (Biotage AB). To test the reliability of SNP typing by Pyrosequencing the SNPs were analysed in parallel by using the SNaPshot minisequencing technique as reference method.

GeneticsPyrosequencingSNPSnapshot (computer storage)Single-nucleotide polymorphismMultiplexHuman genomeGeneral MedicineTypingBiologySNP genotypingInternational Congress Series
researchProduct

Polymorphism and chromosomal localization of the porcine signal transducer and activator of transcription 5B gene (STAT5B).

2006

Signal transducers and activators of transcription (STATs) are a family of transcription factors. STAT5A and 5B are two highly related proteins encoded by two distinct genes. Transgenic knockout mice studies have indicated the importance of STAT5 proteins for the regulation of both lactation and growth performance. Moreover, different studies determine the role of STAT5 proteins in the modulation of adipocyte function. In this study, we sequenced one fragment of STAT5B gene from animals of six breeds (Duroc, Iberian, Landrace, Large White, Pie´train and Meishan) to identify genetic variants. A G/A single nucleotide polymorphism in intron 14 creates a polymorphic PstI restriction site and wa…

GeneticsRadiation Hybrid MappingPolymorphism Geneticpolymorphism porcine STAT5BSwineIntronSingle-nucleotide polymorphismGeneral MedicineQuantitative trait locusBiologyMolecular biologyChromosomes MammalianSTAT5ARestriction siteSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoFood AnimalsSTAT5 Transcription FactorAnimalsAnimal Science and ZoologyRestriction fragment length polymorphismAlleleGeneJournal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie
researchProduct

Mixture analysis using SWaP™ SNPs and non-biallelic SNPs

2006

Abstract Improved analysis of degraded samples, increased throughput, and a wider choice of typing platforms are some of the significant advantages offered by single nucleotide polymorphism (SNP) genotyping over established short tandem repeat (STR)-based systems. However, DNA mixtures present a considerable problem to SNP analysis as there is currently no generally accepted technique that allows recognition of the presence of a mixed profile or identification of the individual contributors. We present the first demonstration of SNP mixture analysis with an approach based upon the use of two rare subsets of SNPs: SWaP™ SNPs and non-biallelic SNPs and discuss their value for forensic mixture…

GeneticsSNPMicrosatelliteSingle-nucleotide polymorphismGeneral MedicineTag SNPBiologyMolecular Inversion ProbeGenotypingSNP arraySNP genotypingInternational Congress Series
researchProduct

SNVSniffer: An integrated caller for germline and somatic SNVs based on Bayesian models

2015

The discovery of single nucleotide variants (SNVs) from next-generation sequencing (NGS) data typically works by aligning reads to a given genome and then creating an alignment map to interpret the presence of SNVs. Various approaches have been developed to call whether germline SNVs (or SNPs) in normal cells or somatic SNVs in cancer/tumor cells. Nonetheless, efficient callers for both germline and somatic SNVs have not yet been extensively investigated. In this paper, we present SNVSniffer, an integrated caller for germline and somatic SNVs from NGS data based on Bayesian probabilistic models. In SNVSniffer, our germline SNV calling models allele counts per site as a multinomial condition…

GeneticsSomatic cellBayesian probabilitySNPMultinomial distributionSingle-nucleotide polymorphismConditional probability distributionBiologyGenomeGermline2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)
researchProduct