Sirtuin1 single nucleotide polymorphism (A2191G) is a diagnostic marker for vibration-induced white finger disease 英文参考文献.docVIP

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Sirtuin1 single nucleotide polymorphism (A2191G) is a diagnostic marker for vibration-induced white finger disease 英文参考文献.doc

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Sirtuin1 single nucleotide polymorphism (A2191G) is a diagnostic marker for vibration-induced white finger disease 英文参考文献

Voelter-Mahlknechtetal.ClinicalEpigenetics2012,4:18 /content/4/1/18 RESEARCH OpenAccess Sirtuin1singlenucleotidepolymorphism (A2191G)isadiagnosticmarkerfor vibration-inducedwhitefingerdisease SusanneVoelter-Mahlknecht1,2*,BerndRossbach1,ChristinaSchleithoff3,ChristianLDransfeld3, StephanLetzel1andUlrichMahlknecht3 Abstract Background:Vibration-inducedwhitefingerdisease(VWF),alsoknownashand-armvibrationsyndrome,isa secondaryformofRaynaud’sdisease,affectingthebloodvesselsandnerves.Sofar,littleisknownaboutthe pathogenesisofthedisease.VWFisassociatedwithanepisodicreductioninperipheralbloodflow.Sirtuin1,aclass IIIhistonedeacetylase,hasbeendescribedtoregulatetheendotheliumdependentvasodilationbytargeting endothelialnitricoxidesynthase.WeassessedSirt1singlenucleotidepolymorphismsinpatientswithVWFtofurther elucidatetheroleofsirtuin1inthepathogenesisofVWF. Methods:Peripheralbloodsampleswereobtainedfrom74patientswithVWF(male93.2%,female6.8%,medianage 53years)andfrom317healthyvolunteers(genderequallydistributed,below30yearsofage).GenomicDNAwas extractedfromperipheralbloodmononuclearcellsandscreenedforpotentialSirt1singlenucleotidepolymorphisms. Fourputativegeneticpolymorphismsoutof113withintheSirt1genomicregion(NCBIGeneReference: NM_012238.3)wereassessed.AllelicdiscriminationwasperformedbyTaqMan-polymerasechainreaction-based allele-specificgenotypingsinglenucleotidepolymorphismassays. Results:Sirt1singlenucleotidepolymorphismA2191G(AssayC10,rwasidentifiedwithinSirt1 exon9(aminoacidposition731,Ile!Val),withdifferingallelicfrequenciesintheVWFpopulation(A/A: 70.5%,A/G:29.5%,G/G:0%)andthecontrolpopulation(A/A:99.7%,A/G:0.3%,G/G:0.5%),withsignificancelevels ofP0.001(Mann–WhitneyUtest(two-tailed)P0.001;F-exactt-testandChi-squaretestwithYatescorrection(all two-tailed):P0.0001).TheheterogeneousA/Ggenotypeinbasepairposition2191issignificantlyoverrepresentedin theVWFpatientpopulationwhencomparedwithhealthycontrols. Conclusion:WeidentifiedtheSirt1A2191Gsinglenucleot