Search results for "SERINE-PROTEASE"

showing 2 items of 2 documents

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

2013

Author version made available in accordance with the publisher's policy.

Candidate geneRefractive errorBone Morphogenetic Protein 2Genome-wide association studyVARIANTSGenomeGenome-wide association studies0302 clinical medicineRisk FactorsMyopiaGRIA4Genetics0303 health sciencesKCNQ Potassium ChannelsDisease geneticsEYE GROWTHASSOCIATIONRETINAL-PIGMENT EPITHELIUMRefractive ErrorsGenetic load3. Good healthADAPTED MOUSE RETINAMeta-analysisACIDPOTASSIUM CHANNELEXPRESSIONSingle-nucleotide polymorphismBiologyWhite PeopleArticle03 medical and health sciencesAsian PeoplemedicineGeneticsHumansGenetic Predisposition to DiseaseReceptors AMPAgene; myopia; refractive030304 developmental biologyHomeodomain Proteinsta1184ta3121medicine.diseaseGENEAlcohol OxidoreductasesSERINE-PROTEASEbiology.protein030221 ophthalmology & optometrySusceptibility locusTrans-ActivatorsEye disorderLamininSerine ProteasesGWAS; meta-analyses; refractive error; myopiaGenome-Wide Association StudyNature Genetics
researchProduct

Alpha1-antitrypsin heterozygosity plays a positive role in attainment of longevity.

2007

Genes involved in cardiovascular diseases (CVD) play an opposite role in human longevity. The alpha1-antitrypsin (AAT) is a serine-protease inhibitor required for the prevention of proteolytic tissue damage, by neutrophil elastase. The role of AAT in CVD has not been definitively assessed and its effect on longevity has not yet fully been studied. To clarify these points, we have studied the distribution of AAT allele variants in 3 cohorts: 127 young patients affected by acute myocardial infarction (AMI), 255 young controls and 143 centenarians from Sicily. The Z allele frequency was most frequent in centenarians (13.3%), intermediate in healthy young controls (3.1%) and less frequent in AM…

SenescenceAdultMalemedicine.medical_specialtyAgingHeterozygotemedia_common.quotation_subjectPopulationLongevityMyocardial InfarctionBiologyGastroenterologyRisk AssessmentLoss of heterozygosityCohort StudiesGene FrequencyRisk FactorsAAT Serine-protease inhibitor AMI Longevity CentenariansInternal medicineGenotypemedicineHumansGenetic Predisposition to Diseasecardiovascular diseasesAlleleRisk factoreducationAllele frequencySicilymedia_commonSettore MED/04 - Patologia GeneraleGeneticsAged 80 and overeducation.field_of_studyLongevityMiddle AgedSettore MED/11 - Malattie Dell'Apparato CardiovascolareLogistic ModelsCase-Control Studiesalpha 1-AntitrypsinFemaleGeriatrics and GerontologyGerontologyBiogerontology
researchProduct