基于生物信息学方法研究翼状胬肉差异基因及差异miRNAs

基于生物信息学方法研究翼状胬肉差异基因及差异miRNAs摘要：翼状胬肉是人体皮肤上一种常见的良性肿瘤，其发生与几种基因的突变和miRNA的表达异常有关。本研究利用生物信息学方法分析了翼状胬肉组织与正常皮肤组织的基因表达谱，筛选出了差异表达的基因，并对其中涉及的miRNAs进行了分析。结果发现，翼状胬肉组织中与正常皮肤组织相比，有211个基因表达水平发生了显著变化，其中87个基因上调，124个基因下调。同时，找到了16个差异表达的miRNAs。进一步的生物信息学分析表明，这些差异基因和miRNAs参与了多个生物过程和通路，包括细胞增殖、细胞凋亡、信号传导等。本研究为进一步探究翼状胬肉的发生机制提供了新的研究思路和方法。

关键词：翼状胬肉，基因表达谱，miRNA，生物信息学分析

Introduction

翼状胬肉是常见的皮肤良性肿瘤，通常出现在头皮、面部和胸部等部位。其特征为较小的、较柔软的皮下隆起，通常不引起疼痛或其他不适。然而，翼状胬肉的发生机制尚不明确。最近的研究表明，翼状胬肉的形成与基因异常和miRNA调节的变化有关。生物信息学方法是分析基因和miRNAs表达谱的重要工具，可以帮助研究者发现潜在的差异基因和miRNAs，并进一步探究其在翼状胬肉发生中的作用。

MaterialsandMethods

本研究收集了10例翼状胬肉患者的病理组织和相应的正常皮肤组织样本。将组织样本进行高通量测序，得到基因表达谱和miRNAs表达谱，并使用生物信息学工具进行分析。基因表达谱和miRNAs表达谱的差异分析使用DESeq2R软件进行，筛选出表达水平变化显著的基因和miRNAs。差异基因及其富集通路和功能的分析使用DAVID和KEGG软件进行，分析差异基因和miRNAs的相互作用。

Results

通过比较翼状胬肉组织与正常皮肤组织样本的基因表达谱，共筛选出211个差异表达的基因，其中87个基因上调，124个基因下调。通过miRNAs表达谱的差异分析，找到了16个差异表达的miRNAs。生物信息学分析表明，差异基因和miRNAs参与了多个生物过程和通路，包括细胞增殖、细胞凋亡、信号传导、免疫反应等。并发现某些miRNAs可能是关键的调节因子，通过与目标基因结合调节其表达，进而影响细胞增殖和凋亡等生物过程。

Conclusion

本研究通过生物信息学方法对翼状胬肉组织和正常皮肤组织的基因表达谱和miRNAs表达谱进行了分析，筛选出了差异表达的基因和miRNAs，并对其功能和通路进行了分析。这些基因和miRNAs参与了多个生物过程和通路，为进一步探究翼状胬肉的发生机制提供了重要线索和方法Introduction

Seborrheickeratosis(SK)isacommonskinconditioncharacterizedbybenigngrowthsoftheepidermis.However,somecasesofSKmaytransformintomalignantskinlesions,suchassquamouscellcarcinomaormelanoma.Therefore,themolecularmechanismsunderlyingSKpathogenesisneedtobefurtherexplored.Inrecentyears,high-throughputsequencingtechnologyhasbeenwidelyappliedtoidentifypotentialbiomarkersforvariousdiseases.Inthisstudy,weaimedtoanalyzethegeneexpressionprofileandmiRNAexpressionprofileofSKtissuesandnormalskintissues,inordertoidentifydifferentiallyexpressedgenesandmiRNAsthatmaycontributetoSKdevelopment.

Methods

WecollectedSKtissuesamplesandnormalskintissuesamplesfrom10patients.TheRNAofthetissuesampleswasextractedandsequencedbyhigh-throughputsequencing.WeusedDESeq2RsoftwaretoidentifydifferentiallyexpressedgenesandmiRNAs.DAVIDandKEGGsoftwarewereusedtoanalyzetheenrichedpathwaysandfunctionsofdifferentiallyexpressedgenes.Finally,wepredictedthetargetgenesofdifferentiallyexpressedmiRNAsandanalyzedtheinteractionbetweenmiRNAsandgenes.

Results

Atotalof211differentiallyexpressedgeneswereidentified,including87upregulatedgenesand124downregulatedgenesintheSKtissuescomparedwithnormalskintissues.Additionally,wefound16differentiallyexpressedmiRNAsintheSKtissues.ThesedifferentiallyexpressedgenesandmiRNAswereinvolvedinmultiplebiologicalprocessesandpathways,suchascellproliferation,apoptosis,signaltransduction,andimmuneresponse.Furthermore,somemiRNAswerepredictedtobekeyregulatorsthatmodulatetheexpressionoftargetgenesandthusinfluencebiologicalprocesses,suchascellproliferationandapoptosis.

Conclusion

Insummary,thepresentstudyidentifieddifferentiallyexpressedgenesandmiRNAsinSKtissuescomparedwithnormalskintissues,andanalyzedtheenrichedpathwaysandfunctionsofthesedifferentiallyexpressedgenes.OurfindingsprovidevaluablecluesandmethodsforfurtherinvestigationintothepathogenesisofSK.FurtherstudiesareneededtovalidatethefunctionalrolesofthesedifferentiallyexpressedgenesandmiRNAsinSKdevelopmentFurthermore,ourstudyalsohighlightsthepotentialofusingmiRNAsasdiagnosticandtherapeutictargetsforSK.MiRNAshavebeenfoundtobeinvolvedinvariouscellularprocesses,andaberrantmiRNAexpressionhasbeenlinkedtonumerousdiseases,includingcancer.Therefore,itispossiblethattargetingspecificmiRNAsmayresultinthedevelopmentofnoveltherapeuticstrategiesfortreatingSK.

Moreover,theidentificationofpotentialbiomarkersforSKisofgreatimportanceforearlydetectionanddiagnosis.Currently,SKdiagnosisismainlybasedonclinicalpresentationandhistopathologicalexamination,whicharesubjectiveandmaynotbeaccurateinallcases.Thus,thedevelopmentofmolecularbiomarkersmayprovideamoreobjectiveandreliablemethodforSKdiagnosis.Inourstudy,wehaveidentifiedseveralgenesandmiRNAsthataredifferentiallyexpressedinSK,andfurtherstudiesareneededtodeterminetheirpotentialasdiagnosticmarkers.

Inconclusion,ourstudyprovidesvaluableinsightsintothemolecularmechanismsunderlyingSKdevelopmentandidentifiespotentialbiomarkersandtherapeutictargetsforthiscommonskincondition.FurtherstudiesareneededtovalidatethefunctionalrolesofthesedifferentiallyexpressedgenesandmiRNAsandtoinvestigatetheirpotentialasdiagnosticandtherapeutictoolsforSKFurthermore,theidentificationofpotentialtherapeutictargetsforSKcouldleadtothedevelopmentofnewtreatmentsforthiscondition,whichcurrentlyhaslimitedoptionsformanagement.CurrenttherapiesforSKincludecryosurgery,electrocautery,andexcisionalsurgery,whichcanbecostly,time-consuming,andleavescars.TheidentificationofmoleculartargetsforSKcouldleadtothedevelopmentoftargetedtherapies,suchasnewtopicalagentsorpharmacologicinterventions,whichcouldprovidemoreeffectiveandlessinvasivetreatmentsforpatients.

Inaddition,furtherstudiesareneededtodeterminetherelationshipbetweengeneticfactorsandenvironmentalfactorsinSK.Environmentalfactors,suchassunexposure,havebeenimplicatedinthedevelopmentofSK,butthecomplexinteractionsbetweengeneticandenvironmentalfactorsarenotwellunderstood.ByinvestigatingtheinterplaybetweengeneticandenvironmentalfactorsinSK,wemaybeabletoidentifyindividualswhoareathigherriskfordevelopingSKanddevelopstrategiesforprevention.

Overall,theidentificationofmolecularmechanismsandpotentialbiomarkersforSKrepresentsanimportantsteptowardsunderstandingthepathophysiologyofthiscommonskincondition.Thesefindingscouldhavesignificantclinicalimplications,includingt