Department of Zoology, University of the Punjab, Lahore, Pakistan.
Department of Zoology, University of Sargodha, Sargodha, Pakistan.
Biomed Res Int. 2017;2017:1070471. doi: 10.1155/2017/1070471. Epub 2017 Dec 20.
von Willebrand disease (VWD) is an inherited, genetically and clinically heterogeneous hemorrhagic disorder. The most common cause of this disease is mutation in the gene that encodes protein von Willebrand factor (VWF) which is responsible for blood clotting. The current study was designed to investigate the role of genetic polymorphisms with the onset of VWD in population of Pakistan. Three exonic variants (c.3445T>C; c.4975C>T; c.7603C>T) from VWF gene were used for the genotyping purpose. The current study employed a case-control association design involving 43 VWD patients and 100 healthy controls from Pakistani population. The genetic reason of VWD was investigated using the allele specific PCR. The significant ( < 0.05) allelic association was found between all three exonic variants and VWD. The CT genotype of these variants was noticed to be associated with significantly higher risk of VWD [odds ratio (95% CI): 14.7 (4.546-47.98), 26.71 (7.281-97.98), and 21.5 (5.806-80.01) for c.3445T>C, c.4975C>T, and c.7603C>T, resp.] while genotypes CC (c.4975C>T) and TT (c.3445T>C and c.7603C>T) were having protective effect against the disease. However, replicated studies are needed for elaborating the role of these SNPs.
血管性血友病（VWD）是一种遗传性、基因和临床异质性出血性疾病。这种疾病的最常见原因是编码血管性血友病因子（VWF）蛋白的基因突变，而 VWF 蛋白负责血液凝结。本研究旨在探讨基因多态性在巴基斯坦人群中与 VWD 发病的关系。使用 VWF 基因的三个外显子变体（c.3445T>C；c.4975C>T；c.7603C>T）进行基因分型。本研究采用病例对照关联设计，涉及来自巴基斯坦人群的 43 名 VWD 患者和 100 名健康对照者。使用等位基因特异性 PCR 研究 VWD 的遗传原因。发现所有三个外显子变体与 VWD 之间存在显著的（<0.05）等位基因关联。这些变体的 CT 基因型被认为与 VWD 显著相关更高的风险[比值比（95%置信区间）：14.7（4.546-47.98），26.71（7.281-97.98）和 21.5（5.806-80.01）分别为 c.3445T>C、c.4975C>T 和 c.7603C>T]，而基因型 CC（c.4975C>T）和 TT（c.3445T>C 和 c.7603C>T）对疾病有保护作用。然而，需要进行重复研究以阐述这些 SNP 的作用。
