Search results for " genome-wide association studies"

showing 3 items of 3 documents

Genome-wide association study reveals the locus responsible for microtia in Valle del Belice sheep breed.

2018

Microtia is a congenital deformity of the outer ear with phenotypes varying from a small auricle to total absence (anotia). The genetic basis is still poorly understood, and very few studies have been performed in sheep. Valle del Belice sheep is a breed showing microtia. The aim of this study was to identify the potential genomic regions involved in microtia in sheep. A total of 40 individuals, 20 with microtia and 20 normal, were genotyped with the Illumina OvineSNP50 BeadChip. The comparison among the results from a genome-wide association study, Fisher's exact test and FST analysis revealed a single strong association signal: rs419889303 on chromosome 1, located within intron 3 of the C…

0301 basic medicineCandidate geneGenotypeSheep Diseasesfisher's testLocus (genetics)Genome-wide association studyBiologyBreedingPolymorphism Single NucleotideCLRN1 geneear size03 medical and health sciencesSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoCLRN1 gene fisher's test F-ST genome-wide association studies ear size ovineGeneticsmedicineAnimalsGenetic Association StudiesSheep DomesticCongenital MicrotiaGeneticsSheepF-STMicrotia0402 animal and dairy scienceMembrane ProteinsCLRN1 gene Fisher’s test FST genome-wide association studies ear size ovine04 agricultural and veterinary sciencesGeneral Medicinemedicine.disease040201 dairy & animal scienceBreedCLRN1 geneovineExact test030104 developmental biologyAnotiagenome-wide association studiesAnimal Science and ZoologyAnimal genetics
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Genetically elevated gamma-glutamyltransferase and Alzheimer's disease

2018

Observational epidemiological evidence supports a linear and independent association between serum gamma-glutamyltransferase (GGT) concentrations and the risk of Alzheimer's disease (AD). However, the causality of this association has not been previously investigated. We sought to assess the causal nature of this association using a Mendelian randomization (MR) approach. Using inverse-variance weighted MR analysis, we assessed the association between GGT and AD using summary statistics for single nucleotide polymorphism (SNP)-AD associations obtained from the International Genomics of Alzheimer's Project of 17,008 individuals with AD and 37,154 controls. We used 26 SNPs significantly associ…

0301 basic medicineOncologyAgingentsyymitDisease030204 cardiovascular system & hematologyAlzheimerin tautiBiochemistryGWAS genome-wide association studiestransferaasit0302 clinical medicineEndocrinologyEpidemiologyMedicineNHGRI National Human Genome Research InstituteGamma-glutamyltransferasebiologyMR Mendelian randomizationGenetic Pleiotropyta3142SNP single nucleotide polymorphismAlzheimer's disease3. Good healthEuropeAD Alzheimer's diseasegeneettiset tekijätmedicine.medical_specialtySingle-nucleotide polymorphismGRS genetic risk scoreta3111Polymorphism Single NucleotideArticle03 medical and health sciencesAlzheimer DiseaseInternal medicineMendelian randomizationGeneticsMendelian randomizationSNPHumansMolecular Biologybusiness.industryGGT gamma-glutamyltransferaseIGAP International Genomics of Alzheimer's ProjectGenetic VariationGamma-glutamyltransferaseCell BiologyOdds ratioMendelian Randomization AnalysisConfidence intervalCI confidence intervalOR odds ratio030104 developmental biologyCase-Control Studiesbiology.proteinbusinessSD standard deviationGenome-Wide Association StudyExperimental Gerontology
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Genetic background in nonalcoholic fatty liver disease: A comprehensive review

2015

In the Western world, nonalcoholic fatty liver disease (NAFLD) is considered as one of the most significant liver diseases of the twenty-first century. Its development is certainly driven by environmental factors, but it is also regulated by genetic background. The role of heritability has been widely demonstrated by several epidemiological, familial, and twin studies and case series, and likely reflects the wide inter-individual and inter-ethnic genetic variability in systemic metabolism and wound healing response processes. Consistent with this idea, genome-wide association studies have clearly identified Patatin-like phosholipase domain-containing 3 gene variant I148M as a major player i…

Genetic MarkersCandidate geneGenome-wide association studieHeredityPatatin-like phospholipase domain-containing 3Genome-wide association studyDiseaseReviewBiologymedicine.disease_causeGeneticNon-alcoholic Fatty Liver DiseaseRisk FactorsHeredityNonalcoholic fatty liver diseasemedicineHumansNonalcoholic fatty liver diseaseGenetic Predisposition to DiseaseGenetic variabilityGenetic associationGeneticsFatty liverGastroenterologyGenetic VariationGeneral Medicinemedicine.diseaseCandidate gene studiePedigreePhenotypeNonalcoholic steatohepatitiTransmembrane 6 superfamily member 2Candidate gene studies; Genetics; Genome-wide association studies; Nonalcoholic fatty liver disease; Nonalcoholic steatohepatitis; Patatin-like phospholipase domain-containing 3; Transmembrane 6 superfamily member 2Genome-Wide Association Study
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