Genuine novel single-nucleotide polymorphism implicated in the von Willebrand factor gene promoter region among Sudanese individuals

2020 ◽  
Vol 45 (4) ◽  
pp. 206
Author(s):  
BashirA Bashir ◽  
MohammedO Gibreel ◽  
MohammedH Mohammed
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Von Willebrand Factor ◽  
Promoter Region ◽  
Gene Promoter ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Factor Gene ◽  
Von Willebrand ◽  
Willebrand Factor ◽  
Gene Promoter Region

scholarly journals A single nucleotide polymorphism at nucleotide −1793 in the von Willebrand factor (VWF) regulatory region is associated with plasma VWF:Ag levels

2000 ◽  
Vol 109 (2) ◽  
pp. 349-353 ◽  
Author(s):  
Philip J. Harvey ◽  
Angela M. Keightley ◽  
Y. Miu Lam ◽  
Cherie Cameron ◽  
David Lillicrap
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Von Willebrand Factor ◽  
Regulatory Region ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Von Willebrand ◽  
Willebrand Factor

scholarly journals Effect of the VWF promoter (GT)n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions

2011 ◽  
Vol 9 (3) ◽  
pp. 603-605 ◽  
Author(s):  
N. HICKSON ◽  
D. HAMPSHIRE ◽  
G. CASTAMAN ◽  
J. EIKENBOOM ◽  
F. RODEGHIERO ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Von Willebrand Factor ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Von Willebrand ◽  
Willebrand Factor

scholarly journals Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1

2003 ◽  
Vol 26 (4) ◽  
pp. 397-401 ◽  
Author(s):  
Daniel Simon ◽  
Eliane Bandinelli ◽  
Israel Roisenberg
Keyword(s):  
Von Willebrand Factor ◽  
Promoter Region ◽  
Disease Type ◽  
Von Willebrand Disease ◽  
Factor Gene ◽  
Von Willebrand ◽  
Willebrand Factor

scholarly journals Polymorphisms in von Willebrand factor gene promoter influence the glucocorticoid-induced increase in von Willebrand factor: the lesson learned from Cushing syndrome

2007 ◽  
Vol 140 (2) ◽  
pp. 230-235 ◽  
Author(s):  
Alessandra Casonato ◽  
Viviana Daidone ◽  
Francesca Sartorello ◽  
Nora Albiger ◽  
Chiara Romualdi ◽  
...  
Keyword(s):  
Von Willebrand Factor ◽  
Cushing Syndrome ◽  
Gene Promoter ◽  
Factor Gene ◽  
Von Willebrand ◽  
Willebrand Factor

scholarly journals The role of single nucleotide polymorphism of IL-6 and IL-10 cytokine on pain severity and pain relief after radiotherapy in multiple myeloma patients with painful bone destructions

Genetika ◽  
2014 ◽  
Vol 46 (2) ◽  
pp. 455-469 ◽  
Author(s):  
Milda Rudzianskiene ◽  
Arturas Inciura ◽  
Elona Juozaityte ◽  
Rolandas Gerbutavicius ◽  
Renata Simoliuniene ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Single Nucleotide Polymorphism ◽  
Pain Relief ◽  
Promoter Region ◽  
Severe Pain ◽  
Gene Promoter ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Analgesic Response

Multiple myeloma (MM) cells interact with bone marrow stromal cells stimulating transcription and secretion of cytokines like IL-6 and IL-10, which are implicated in the progression and dissemination of MM. Regulation of cytokines secretion is under genetic control through genetic polymorphisms in their coding and promoter sequences. It seems that single nucleotide polymorphism (SNP) in the promoter region of various genes may regulate the plasma concentrations of cytokines. Cytokines could be also hypothesized to function as pain modulators as peripheral nociceptors are sensitized by cytokines. The aim was to determine if the SNP of IL-6 and IL-10 cytokines could influence the analgesic response of radiotherapy in the treatment of painful bone destructions in MM patients. 30 patients (19 women and 11 men, median age: 67 years) with MM and painful bone destructions were treated with palliative radiotherapy. Pain was evaluated according to the visual analogue scale and analgesics intake. Pain scores and analgesics use were measured prior to radiotherapy as well as 4, 12 and 24 weeks afterward. Opioid analgesics were converted to the morphine-equivalent daily dose (MEDD). Genomic DNA was extracted from peripheral blood leukocytes and IL-6 and IL-10 gene promoter polymorphisms were analysed with polymerase chain reaction. 60% of patients reported severe pain prior to radiotherapy, which decreased to 13% at the first follow-up visit (p <0.001). The MEDD on admission to the hospital was 75 mg/day which decreased to 46 mg/day at the first follow-up visit (p = 0.033). A significant parameter in pain relief was: age < 65 years (p=0.029). We analysed 6 SNPs in the gene promoter region of IL-6 (-597 G/A, -572 G/C, -174 G/C) and IL-10 (-592 A/C, -819 C/T, -1082 A/G) as well as their relation with pain severity and analgesic consumption. Patients who are IL-10 -1082 A/G carriers are prone to respond better to radiotherapy than other patients (p<0.05). A borderline association was noted for patients who are IL-6 -597 A/A and G/G carriers - assumed to be at higher risk for severe pain prior to radiotherapy (p=0.07) while for patients who are IL-10 - 1082 A/A carries: the median pain score decreased faster (p=0.08). Patients with genotypes IL-6 -597 A/A and IL-6 -174 C/C required a smaller dose of opioids (p=0.06). SNP of IL-6 and IL-10 cytokines can influence the analgesic response of radiotherapy. Patients with genotype IL-10 -1082 A/G respond better to radiotherapy.

Human Endothelial Cell-derived Nuclear Proteins that Recognise Polymorphic DNA Elements in the von Willebrand Factor Gene Promoter Include YY1

2001 ◽  
Vol 86 (08) ◽  
pp. 672-679 ◽  
Author(s):  
Magdaline Costa ◽  
Peter Grant ◽  
Gillian Rice ◽  
Simon Futers ◽  
Robert Medcalf
Keyword(s):  
Endothelial Cell ◽  
Von Willebrand Factor ◽  
Gene Promoter ◽  
Nuclear Proteins ◽  
Human Endothelial Cell ◽  
Factor Gene ◽  
Allele Variant ◽  
The Common ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryFour common base-change polymorphisms have been found in the von Willebrand factor gene promoter: (-1793 C/G, -1234 T/C, -1185 G/A and -1051 A/G). All four polymorphisms are in strong linkage dis-equilibrium and recent reports have indicated these polymorphisms are associated with plasma vWF:Ag levels suggesting that one or more of these elements influence regulation of the vWF gene. We report that human endothelial cell-derived trans-acting factors display allelic preferences in binding activity to each polymorphic site. The common A allele variant of the –1051 polymorphism and the rarer A allele variant of the –1185 polymorphism provided specific binding of nuclear proteins. The G allele counterpart of these two variants did not produce any complex formation indicating that the nucleotide substitution at these positions alters the DNA binding ability of nuclear factors. The two alleles of the –1234 polymorphism produced two complexes with a similar migration pattern however stronger binding was found to the common T variant of this allele. Two specific complexes associated with the rarer G allele of the –1793 polymorphism, but only one associated with the C allele. Supershift experiments revealed that the trans-acting factor YY1 recognised the slower migrating complex formed on the –1234 T/C and the –1051 A polymorphic sites with a strong binding preference for the –1234 T allele variant. The identification of YY1 as a component of the factors that recognise these elements suggests that this ubiquitous nuclear protein may play a role in the regulation of the vWF promoter.

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