Genetic polymorphisms frequency of vitamin D receptor gene rs7975232 and rs731236 in Iraqi thalassemic patients and healthy controls compared to Arabian healthy populations

Abstract

Listen

Translate article

BackgroundVitamin D receptor (VDR) genetic polymorphisms have been stated to be related with thalassemia, in addition to the environmental factors that enhanced the disease in genetically predisposed individuals. Also, it's responsible for bone metabolism regulation, as well its role in the immunity. AimThe present study designated to investigate the relationship between VDR genetic polymorphisms and thalassemia among Iraqi population and compared the present frequencies to other frequencies among Arabian population. Materials and methodsApa-I and Taq-I restriction enzymes were used to investigate VDR single nucleotide polymorphisms (SNPs) frequency by polymerase chain reaction – Restriction fragment length polymorphisms (RFLP) of the targeted segments (rs7975232 and rs731236) in 70 Iraqi patients with thalassemia and 75 Iraqi healthy volunteers as control group. In addition, a comparison was done between the present findings for the healthy volunteers and other previous findings among the healthy Arabian populations. ResultsA novel study of VDR rs7975232 and rs731236 genotyping and allele frequencies were demonstrated among the Iraqi thalassemic patients and the Arabian thalassemic patients. The present findings revealed a significant difference of VDR polymorphisms rs7975232 and rs731236 in thalassemia patient's group compared to healthy controls. In rs7975232, AA genotype was significantly increased in thalassemia patients' group compared to controls (54.29 vs. 9.33%, OR: 11.54, p: 9.1 × 10−9). Also, A allele frequency was significantly increased in thalassemia patients' group compared to controls (71 vs. 25%, OR: 7.34, p: 9.0 × 10−11). In contrast, the results of VDR polymorphisms rs731236 were appeared the CC genotyping frequency was significantly increased in thalassemia patient's group compared to controls (50.0 vs. 6.67%, OR: 14.0, p: 5.8 × 10−9). Also, C allele showed a significant increased frequency in thalassemia patient's group compared to controls (71.0 vs. 19.0, OR: 10.44, p: 1.0 × 10−13). Also, it demonstrates the variation of VDR polymorphisms rs7975232 and rs731236 between the Iraqi healthy controls and other healthy controls in the Arabian population. ConclusionThe present findings showed a significant association between VDR polymorphisms and thalassemia in Iraqi patients, the AA genotype and A allele frequencies were significantly increased in thalassemia patients' group compared to controls in VDR polymorphism rs7975232. While, the CC genotype and C allele frequencies were significantly increased in thalassemia patients' group compared to controls in VDR polymorphism rs731236. Also, it demonstrates the variation of VDR polymorphisms between the Iraqi healthy controls and other healthy controls in the Arabian population.