Abstract
Background Single-nucleotide polymorphisms (SNPs) in the von Willebrand factor (VWF) gene promoter region have been documented. VWF gene mutations are exhibited by individuals with von Willebrand disease, whereas they could be associated with bleeding/thrombotic events. However, data on Sudanese ethnic diversity of the VWF gene and its promoter are not fully characterized. Objectives This is a cross-sectional genetic-based study undertaken to characterize genetic variations in the promoter region of VWF gene in Sudanese individuals. Patients and methods Genomic DNA was extracted from buffy coat of 10 individuals with negative bleeding history using standard protocols. Eight (80%) were men and two (20%) were women. The VWF gene promoter was amplified by using PCR and subsequently sequenced. Results Four SNPs were characterized in the VWF promoter: G/A at -1135 (rs7964777), T/C at -1087 (rs7954855), A/C at -754 (rs113881525), and G/A at -578 (novel). These SNPs had identical allele frequencies of 0.9 for the -1135G, -754A, and -578G alleles and 0.1 for the -1135A, -754C, and -578A alleles, whereas SNPs -1087T allele had a frequency of 0.8 and -1087C allele had a frequency of 0.2. No significant differences were detected related to age and sex with the mean value of plasma VWF: Ag (P < 0.242 and < 0.550, respectively). No association between the plasma VWF: Ag levels and individuals of O blood type (0.586 U/ml) and non-O blood type (1.11 U/ml) was encountered in the test group (chi 2=P < 0.433). Conclusion This study explores that -578 G/A is a novel SNP of VWF gene promoter among Sudanese individuals. Further studies are required to establish the role of these SNPs as predictive transcription enhancers.