2014
Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure
Polimanti R, Piacentini S, Iorio A, De Angelis F, Kozlov A, Novelletto A, Fuciarelli M. Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure. European Journal Of Human Genetics 2014, 23: 116-123. PMID: 24667780, PMCID: PMC4266733, DOI: 10.1038/ejhg.2014.47.Peer-Reviewed Original ResearchAllelesAmino Acid SequenceChromosomes, Human, Pair 22DNA Copy Number VariationsEnvironmentGene FrequencyGenetic Association StudiesGenetics, PopulationGenome-Wide Association StudyGenotypeHaplotypesHumansIntramolecular OxidoreductasesMacrophage Migration-Inhibitory FactorsModels, GeneticMolecular Sequence DataMultigene FamilyRisk FactorsSelection, GeneticSequence AlignmentSkin Pigmentation
2012
GSTO2*N142D gene polymorphism associated with hypothyroidism in Italian patients
Piacentini S, Monaci PM, Polimanti R, Manfellotto D, Fuciarelli M. GSTO2*N142D gene polymorphism associated with hypothyroidism in Italian patients. Molecular Biology Reports 2012, 40: 1967-1971. PMID: 23079717, DOI: 10.1007/s11033-012-2253-0.Peer-Reviewed Original ResearchConceptsGST gene polymorphismsGene polymorphismsOxidative stressItalian patientsGST null polymorphismsBiomarkers of inflammationAnti-inflammatory responseLevel of inflammationLogistic regression analysisThyroid hormone productionPhase II enzymesCase-control populationRisk factorsHypothyroid individualsEndocrinal diseasesInflammation disordersPCR-RFLP methodHypothyroidismNull polymorphismThyroid glandGenotype distributionHormone productionGlutathione S-transferaseInflammationPatients