Abstract
BackgroundVibration-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.MethodsPeripheral 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.ResultsSirt1single nucleotide polymorphism A2191G (Assay C_25611590_10, rs35224060) was identified within Sirt1 exon 9 (amino acid position 731, Ile → Val), with differing allelic frequencies in the VWF population (A/A: 70.5%, A/G: 29.5%, G/G: 0%) and the control population (A/A: 99.7%, A/G: 0.3%, G/G: 0.5%), with significance levels of P < 0.001 (Mann–Whitney U test (two-tailed) P <0.001; F-exact t-test and Chi-square test with Yates correction (all two-tailed): P <0.0001). The heterogeneous A/G genotype in base pair position 2191 is significantly overrepresented in the VWF patient population when compared with healthy controls.ConclusionWe identified theSirt1A2191Gsingle nucleotide polymorphism as a diagnostic marker for VWF.
Highlights
Vibration-induced white finger disease (VWF), known as hand-arm vibration syndrome, is a secondary form of Raynaud’s disease, affecting the blood vessels and nerves
For rs1063111, we had identified a fre quency of 99.5% for the T/T allele and 0.5% for the A/T allele in the control population, which remained unchanged in the VWF patient population
Because the T/T allele had a frequency of 98.3% versus 1.7% for the A/T allele in the HapMap data for Central Europeans, this single nucleotide polymorphism (SNP) may be considered a true SNP, which remains unchanged within the VWF population
Summary
Vibration-induced white finger disease (VWF), known as hand-arm vibration syndrome, is a secondary form of Raynaud’s disease, affecting the blood vessels and nerves. Vibration-induced white finger disease (VWF) is an industrial injury that is triggered by the continued use of vibrating hand-held machinery. According to VWF is characterized by vasospastic attacks and a cold sensation in the fingers followed by cyanotic discoloration or skin pallor (Figure 1) [2,3,4,5]. In later stages of the disease, a cold ambient temperature is no longer required as a trigger to cause vasospasm. VWFmay be triggered by hand-operated technical tools and machines that cause high frequency vibration with an oscillation rate >50 Hz. The occurrence of the disease depends on the length and intensity of daily exposure to vibration. Little is known about individual susceptibility factors with respect to VWF
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