The association of the Fok1(rs2228570)vitamin D receptor (VDR) polymorphism with cardiovascular diseases predisposition in Sudanese patients.

  • Manal A Fadl
  • Hadeel M.M. Hassan
Keywords: Cardiovascular diseases, VDR polymorphisms, rs2228570 (Fok1)


Cardiovascular diseases (CVDs) are public health concerns globally. The role of genetics in CVDs predisposition was evidenced in previous studies. The nuclear vitamin D receptor (VDR)regulates the transcription of a number of different genes implicated in a variety of diseases including CVDs.In this study we aimed to investigate “for the first time” the association of vitamin D receptor (VDR) FokI(rs2228570)gene polymorphismwith the risk of heart diseases (CVDs) in Sudanese patients. A cross sectional case-control study was conducted, including 60 of proven heart disease (CVD)patients and 77 controls. The demographic information was obtained using well designed questionnaire. The genotypes of the VDR FokIpolymorphism (rs2228570) were determined by polymerase chain reaction-restriction fragment length polymorphism method using Fok1 restriction enzyme.The results of this study showed that atherosclerosis represents 57.1% of the CVD cases. No gender difference was observed when compare cases to the controls (P= 0.13).Previous attack of CVDs was reported in16.7% of the CVD cases. 50% of the patients have family history of CVDs with high significant difference when compared to the controls (P=0.0001)52% and 48% of the CVD patients are hypertensive and diabetic respectively. The genotypes of the Fok1polymorphismof the VDR gene did not differ between CVD patients and control subjects (P=0.72).Thisindicates that this mutation is unlikely to play a major role in CVDs predisposition in our sample. However, the frequencies of the mutant CC and TC genotypes among CVD patients who encountered previous attack was 33.3% and 55.6% respectively.The frequency of the mutant allele among CVD cases and controls is71% and 74% respectively and among who patients have family history of CVD was 72%, indicating a potential presence of the mutant allele in the general population.Thisresult suggest that the Fok1 polymorphism of the VDR gene is unlikely to contribute to CVDs predisposition in this samples, however, a considerable frequency of the mutant allele among CVD cases and controls and among those who have family history of CVDs, indicating a latent presence of the mutant allele in the general population and mightpossibly contribute to disease susceptibility in Sudanese CVD patients.


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