Abstracts Division 1
8. Putative role of single nucleotide polymorphisms of VDR, CYP2R1 & CYP27B1 genes in cardiovascular disease patients with hypertension and diabetes
Humera Fiaz1,2,3, Friederike Ehrhart1, Fazli Rabbi Awan2, Abdul Rehman Khan3,
Chris TA Evelo1, Susan LM Coort1
1 Department of Bioinformatics-BiGCaT, NUTRIM, Maastricht University, Maastricht, the Netherlands.
2 Diabetes and Cardio-Metabolic Disorders Lab, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
3 Obesity and Diabetes Research Laboratory, Department of Chemistry, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
Vitamin D is an important secosteroid hormone and micronutrient. It is known for its preventive role in
non-communicable diseases such as cardiovascular diseases (CVD), diabetes and
hypertension. The availability and physiology of vitamin D are affected by both
the environment and genetics. Studies have shown an association with
cardiometabolic diseases and single nucleotide polymorphisms (SNPs) in the
genes involved in vitamin D metabolism and signaling. However, the underlying
mechanisms of vitamin D in ameliorating cardiometabolic disorders remain
unclear. Therefore, the present study was designed to assess the effect of
vitamin D receptor gene polymorphisms (rs7975232 and rs2228570) and vitamin D
synthesizing genes variants (rs10741657, rs10766197 of CYP2R1 and
rs10877012 of CYP27B1) on serum vitamin D level and health status of CVD
patients. Furthermore, the relationship between these SNPs and key vitamin D
metabolites in CVD patients will be analyzed. Finally, the functional effect of
the vitamin-D related polymorphisms will be investigated with network analysis.
In total, 626 individuals were recruited (control = 226; patients = 400). In
all subjects, systolic and diastolic blood pressure, serum levels of glucose,
liver enzymes and lipids were measured and genotypes of the vitamin D-related
SNPs were determined. Wilcoxon test, Kruskal Wallis test and logistic regression
were performed to compare the biochemical levels and genotypes in CVD patients
with their controls. For functional evaluation, an SNP-gene-pathway network was
created using Cytoscape. Preliminary results showed that among CVD patients, AG
and GG genotyping of rs2228570 and GA genotyping of rs10766197 is associated
with hypertension (OR: 1.12; 95% CI: 0.60-2.08; p = 0.006) and diabetes (OR:
1.79; 95% CI: 1.10-2.92; p = 0.01). Moreover, rs2228570 is found to be
significantly associated with systolic blood pressure. Further analysis of the
results is needed to decipher the biological effect of vitamin D-related SNPs
in cardiometabolic diseases.
Part of this study is funded by the Higher Education Commission (HEC) of Pakistan.
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NUTRIM aims to contribute to health maintenance and personalised medicine by unraveling lifestyle and disease-induced derangements in metabolism and by developing targeted nutritional, exercise and drug interventions. This is facilitated by a state of the art research infrastructure and close interaction between scientists, clinicians, master and PhD students.
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