Search results for " genetics study"

showing 2 items of 2 documents

Demographic, Genealogical and morphological characterization of Pantelleria donkey

2004

A demographic, genetic and morphologi­cal evaluation on Pantelleria donkey's population was carried out to give a con­tribution for the exploitation of this old donkey breed. Genealogical data were analysed by the software Minbreed v 1.0. Pedigree is com­posed by 4 generations. The inbreeding of the population (Fwhole population = 0.4 %) resulted very low than the expectations; therefore, the inbreeding coefficients resul­ted low in the males F male, = 0.9 % and in the females Ffemale = 0.0 %. On the other hand, the mean relationship among the 378 couplings resulted very high a1j = 15,1 %. The morphological study was carried out on 20 subjects. For each animal the most important morphologic…

Settore AGR/17 - Zootecnica Generale E Miglioramento GeneticoPantelleria Donkey genetics study mor­phology autochthonous race
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X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

2021

Background & aims: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. Methods: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). Results: Single-marker association analyses found approximately 100 loci displaying P < 5 × 10-4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10-6; odds…

Canadian-US PBC Consortium0301 basic medicineMaleLinkage disequilibriumGenome-wide association studyDiseasePBCSettore MED/03 - GENETICA MEDICALinkage Disequilibrium0302 clinical medicineUK-PBC ConsortiumGenotypeMitochondrial Precursor Protein Import Complex ProteinsItalian PBC Genetics Study GroupOdds RatioX-Wide Association StudyJapan PBC-GWAS ConsortiumX chromosomeGeneticsLiver Cirrhosis BiliaryGastroenterologyForkhead Transcription FactorsDNA-Binding ProteinsShal Potassium Channels030211 gastroenterology & hepatologyFemaleAdultMonosaccharide Transport ProteinsSuperenhancerLocus (genetics)Single-nucleotide polymorphismBiologyProtein Serine-Threonine KinasesPolymorphism Single NucleotideArticleWhite People03 medical and health sciencesAsian PeopleProto-Oncogene ProteinsEndopeptidasesHumansCell LineageGenetic Predisposition to DiseaseMeta-analysiGenetic associationChromosomes Human XGastroenterology & HepatologyHepatology1103 Clinical SciencesMeta-analysis030104 developmental biologyGenetic Loci1114 Paediatrics and Reproductive MedicineMeta-analysis; Superenhancer; X-Wide Association Study1109 NeurosciencesCarrier ProteinsGenome-Wide Association Study
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