sirtuin1 single nucleotide polymorphism (a2191g) is a diagnostic marker for vibration-induced white finger diseasesirtuin1单核苷酸多态性(a2191g)是诊断标记vibration-induced白手指疾病.pdf

Voelter-Mahlknecht et al. Clinical Epigenetics 2012, 4:18 /content/4/1/18 RESEARCH Open Access Sirtuin1 single nucleotide polymorphism (A2191G) is a diagnostic marker for vibration-induced white finger disease 1,2* 1 3 3 Susanne Voelter-Mahlknecht , Bernd Rossbach , Christina Schleithoff , Christian L Dransfeld , Stephan Letzel1 and Ulrich Mahlknecht3 Abstract Background: Vibration-induced white finger disease (VWF), also known as hand-arm vibration syndrome, is a secondary form of Raynaud’s disease, affecting the blood vessels and nerves. So far, little is known about the pathogenesisof the disease. VWF is associated with an episodic reduction in peripheral blood flow. Sirtuin 1, a class III histone deacetylase, has been described to regulate the endothelium dependent vasodilation by targeting endothelial nitric oxide synthase. We assessed Sirt1single nucleotide polymorphisms in patients with VWF to further elucidate the role of sirtuin 1 in the pathogenesis of VWF. Methods: Peripheral blood samples were obtained from 74 patients with VWF (male 93.2%, female 6.8%, median age 53 years) and from 317 healthy volunteers (gender equally distributed, below 30 years of age). Genomic DNA was extracted from peripheral blood mononuclear cells and screened for potential Sirt1single nucleotide polymorphisms. Four putative genetic polymorphisms out of 113 within the Sirt1 genomic region (NCBI Gene Reference: NM_012238.3) were assessed. Allelic discrimination was performed by TaqMan-polymerasechainreaction-based allele-specific genotyping single nucleotide polymorphism assays. Results: Sirt1single nucleotide polymorphism A2191G (Assay C10, r was identified within Sirt1 exon 9 (a