Abstract: Reports show high prevalence of vitamin D deficiency among Jordanians. While the attention of researchers is focused on environmental factors and dressing styles in Jordan, we believe that more investigations are required on the contribution of genetic variations in vitamin D severity. Cytochrome P450 CYP2R1 gene has been previously reported to play role in vitamin D deficiencies. By screening the entire coding sequence of the CYP2R1 gene, here we investigated 58 patients (mean age 26.4±12.1 years) of varying severity levels of vitamin D deficiency. Findings showed the occurrence of one polymorphism in Exon 1 and two polymorphisms in Exons 3 and 4. The c.C177T (i.e., p.S59S; rs12794714) polymorphism was found with an allele frequency of 51.8% for C and 48.2% for T. Nearly 14 patients were homozygous C, 31 patients were heterozygous and 12 patients were homozygous for the polymorphism T. One non-synonomous heterozygous mutation c.G852A was reported in two patients (with mild and moderate severity) and is responsible for changing the amino acid Met to Ile (p.M284I). Also, a silent heterozygous mutation was found in two patients (c.C1059T or p.D353D). The patients displayed mild and insufficient vitamin D levels. The c.C177T polymorphism display some relationship with severity, however further investigation on a larger population size might provide more insights to the role of this genetic variation in severity of vitamin D deficiencies.
Ahmad K. Abubaker, Manal Kassab, Ahed J. Alkatib, Basima Almomani, Wadah M. Khriesat, Daher K. Rabadi and Ziad A. Bataineh, 2016. Vitamin D Deficiency and Genetic Variations of CYP2R1 Gene among Jordanian Patients. Research Journal of Biological Sciences, 11: 49-53.