EDN1基因与高原高血压发生的分子遗传研究

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【Abstract】ObjectiveToexplorehepotentialasociationbetweenedotlin-1（EDN）geneadtheocurrencendeveopetf altude-relatedhertension（AH）inteQinghareg.MetodsAtotal28ARHpatientsand256healtycontrs，atchdbyage， sex，ndatioalityoldgidebsaltspialaldplesedd blood genomic DNA was extracted. MassARRAY Cs single nucleotide polymorphism typing technology was used for gene typing and association analysis.WedetectedpotentialpathogenicVariantsEDNgeneinARHpatientstroughSangersequencing.WeconstructedEDmutant cellsusingCCa9tcolgexplringitsectonigrationbiltfC16ellsthoughansellgratoexpts. ResultsTestatisticallsfcantdiferenefoundinealelefreuencyr57lousbtweenthe28Rpatisandte256 healthy controls（ P <0.05）.AnovelrareheterozygousEDN1variant，c.5O4_506delAAG：p.Argl68del，wasidentified inARHpatients.The populationfrequencythismutationhadnotbeenreportedintheGnomADdatabase.Itwasfoundthatundernormoxicandhypoxic conditions，theEDN1c.504_506delAAGvariantpromotedcellmigrationAC16（P<0.05）.ConclusionThers5370locusheEDN1 geneissociatedwitsseptibilitytoARHiQnghagionndaptetialpatgenceterogousvariantteEDgaen identifiedin ARHcases.Thisvariantpromotes cellmigrationandmaybe involvedintheoccurrenceanddevelopment ARH.

【Keywords】Endothelin-1; altitude;Hypertension;Mutation;Gene editing

血压升高是导致心脑血管疾病的首要危险因素，全球范围内每年导致约1080万人死亡[1]。（剩余12070字）