Search results for "HNF1a"

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Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels

2011

Background— C-reactive protein (CRP) is a heritable marker of chronic inflammation that is strongly associated with cardiovascular disease. We sought to identify genetic variants that are associated with CRP levels. Methods and Results— We performed a genome-wide association analysis of CRP in 66 185 participants from 15 population-based studies. We sought replication for the genome-wide significant and suggestive loci in a replication panel comprising 16 540 individuals from 10 independent studies. We found 18 genome-wide significant loci, and we provided evidence of replication for 8 of them. Our results confirm 7 previously known loci and introduce 11 novel loci that are implicated in p…

Netherlands Twin Register (NTR)Genome-wide association studyDisease030204 cardiovascular system & hematology0302 clinical medicineDESIGNRisk FactorsFRAMINGHAMNETHERLANDS TWIN REGISTERgeneticsCRP GENE2. Zero hungerGenetics0303 health scienceseducation.field_of_studybiologyCOMMON VARIANTS3. Good healthHNF1AC-Reactive Proteinmyocardial infarctionCardiovascular DiseasesMeta-analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCardiology and Cardiovascular MedicineVasculitisPopulationArticle03 medical and health sciencesINFLAMMATIONSDG 3 - Good Health and Well-beingPhysiology (medical)/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineHumansGenetic Predisposition to DiseaseCORONARY-HEART-DISEASEALPHA-GENEeducation030304 developmental biologyGenetic associationEPIDEMIOLOGIC APPLICATIONSgenome-wide association studyC-reactive proteinmedicine.diseasemeta-analysisinflammationbiology.proteinGENETICALLY ISOLATED POPULATIONMetabolic syndromeBiomarkers
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MODY izraisošo mutāciju detektēšana, izmantojot eksomu sekvenēšanu

2015

MODY (Maturity Onset Diabetes of the Young) ir monogēnā cukura diabēta veids, kam raksturīga autosomāli dominanta pārmantošana un simptomu izpausme pirms 25 gadu vecuma. Mutācija kādā no trim gēniem – HNF1α, HNF4α un GCK, sastāda 70-80% MODY gadījumu, tomēr pastāv vēl vismaz 10 gēni, kuros radušās mutācijas spēj izraisīt MODY simptomus. Bakalaura darba mērķis ir detektēt MODY izraisošās mutācijas, izmantojot eksomu sekvenēšanu. Eksomu sekvenēšana tika veikta 11 pacientiem no trim ģimenēm. Vienā no ģimenēm tika atrasta jauna mutācija HNF1α, kas ir tikai ģimenes locekļiem ar MODY un noteikta kā slimību izraisoša, tādējādi apstiprinot diagnozi MODY3. Bakalaura darbs tika izstrādāts Latvijas Bi…

eksomu sekvenēšanaGCKMODYBioloģijaHNF4aHNF1a
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