6533b86efe1ef96bd12cb3bf
RESEARCH PRODUCT
Role of TGF-β Pathway Polymorphisms in Sporadic Thoracic Aortic Aneurysm: rs900 TGF-β2 Is a Marker of Differential Gender Susceptibility
Balistrericarmela RitaM BovaLoredana VaccarinoGiusy I. ForteCandoregiuseppinaGiovanni RuvoloDomenico LioFederica Maria Di MaggioLetizia ScolaGiuseppina Colonna-romanoCalogera Pisanosubject
MalePathologyThoracicGene FrequencyProtein IsoformsThoracic aortaReceptorSingle Nucleotidesporadic TAAAdult; Aged; Aortic Aneurysm Thoracic; Female; Gene Frequency; Genotype; Humans; Interleukin-10; Male; Middle Aged; Protein Isoforms; Regression Analysis; Sex Factors; Transforming Growth Factor beta2; Genetic Predisposition to Disease; Polymorphism Single NucleotideMiddle AgedPathophysiologyAortic AneurysmInterleukin-10Interleukin 10Regression AnalysisFemaleInflammationResearch Articlelcsh:RB1-214TGF-beta SNPAdultmedicine.medical_specialtyArticle SubjectGenotypeImmunologyBiologyPolymorphism Single NucleotideThoracic aortic aneurysmcomplex mixturesTransforming Growth Factor beta2Sex Factorsmedicine.arteryparasitic diseasesmedicinelcsh:PathologyHumansSNPSettore MED/05 - Patologia ClinicaGenetic Predisposition to DiseasePolymorphismAllele frequencyAgedSettore MED/04 - Patologia GeneraleAortic Aneurysm ThoracicSettore MED/23 - Chirurgia CardiacaCell Biologymedicine.diseasedigestive system diseasesTransforming growth factorTGF-beta SNPs; sporadic TAA; Inflammationdescription
Thoracic aortic aneurysm (TAA) is a progressive disorder involving gradual dilation of ascending and/or descending thoracic aorta with dissection or rupture as complications. It occurs as sporadic or defined syndromes/familial forms.Genetic, molecular and cellular mechanims of sporadic TAA forms are poorly characterized and known. Thus, our interest has been focused on investigating the role of genetic variants of transforming growth factor-β(TGF-β) pathways in TAA risk. On the other hand, no data on the role of genetic variants of TGF-βpathway in sporadic TAA exist until now. In addition, other cytokines, including IL-10, orchestrate TAA pathophysiology. Their balance determines the ultimate fate of the aortic wall as healing atherosclerosis or aneurysm formation. Thus, in this paper it was analyzed the role of ten polymorphisms of genes encoding TGF-βisoforms and receptors, and IL-10 in sporadic TAA. Our study included cases affected by sporadic TAA and two control groups. The most relevant finding obtained allows us to propose that rs900 TGF-β2 SNP is associated with sporadic TAA in women. This might open new perspectives for the analysis of sporadic TAA susceptibility factors and prevention.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2013-12-17 | Mediators of Inflammation |