Profile of vitamin D receptor polymorphism Bsm I and FokI in end stage renal disease Egyptian patients on maintenance hemodialysis

Abstract

Objective: In end stage renal disease, the synthesis of vitamin D is disturbed.Hyperparathyroidism is one of the key factors in the pathogenesis of many of the complications of dialysis mainly bone and cardiovascular complications.Aim:This study aimed at assessing vitamin D receptor gene polymorphisms BsmIand FokI in Egyptian patients with end stage renal disease on maintenance haemodialysis and the assosciation of these polymorphisms with cardiovascular complications and hyperparathyroidism among these patients. Methods:One hundred subjects, recruited from Medical Research Institute, from March to July 2014, divided into two main groups; the control group which included thirty apparently healthy subjects and the patients group which included seventy patients with end stage renal disease on maintenance haemodialysis with median 4 years. To all studied subjects, detailed history was taken, thorough physical examination, carotid intima media thickness, presence of plaques and ECG ischemic changes. Laboratory investigations included serum levels of: glucouse, urea, creatinine, uric acid, albumin, total cholesterol, low and high density lipoproteins, calcium, phosphorus, and CRP as well as plasma PTH level. For molecular studies, the detection of BsmI and FokI polymorphisms using polymerase chain reaction and restriction fragment length polymorphism (PCR / RFLP) technique.Results: 1.No statistically signifi cant difference could be detected in both BsmI and FokI gene polymorphisms between the hemodialysis patients and the controls, suggesting that the development of ESRD had no relation with either VDR BsmI or FokI gene polymorphisms.2.No statistically signifi cant difference were found in these polymorphisms between the hemodialysis patients with or without cardiovascular complications or between patients with PTH level less or more than 300 pg/ml. These results suggest that the development of cardiovascular complications and secondary hyperparathyroidism among Egyptian patients on maintenance haemodialysis cannot be attributed to these two gene polymorphisms. Conclusion:No association could be found between the variant alleles of BsmI and FokI gene polymorphisms and the development of ESRD, cardiovascular complications and secondary hyperparathyroidism among the studied samples of Egyptian patients on maintenance haemodialysis. Research

Relationship between vitamin D receptor gene polymorphism FokI and fetuin A as marker of vascular calcification in Egyptian hemodialysis patients

“…In agreement with our results, the study of Vigo et al found that iPTH level in the FF group was significantly higher than both Ff and ff groups in Spanish patients with CKD, and they suggested that FokI polymorphisms of the VDR gene may determine the parathyroid response in CRF patients [26] . In contrast to our results, El-Attar et al did not found a significant difference in genotype distribution of FokI polymorphism among patients with iPTH less than 300 pg/ml and patients with iPTH more than 300 pg/ml [12] .…”

“…There was no significant difference between the studied groups regarding age and sex, which means that both groups were comparable. In the current study, there was a highly significant increase in CIMT in the patient group than the control group; this agrees with the study done in Alexandria by El-Attar et al [12] , who compare 70 Egyptian patients on regular HD and 30 healthy subjects and found a significant increase in CIMT in hemodialysis patients compared to the control group and Paul et al [13] , who found that hemodialysis patients had significantly greater CIMT than age and sexmatched non dialyzed chronic kidney disease [CKD] patients, suggesting that hemodialysis is an independent risk factor for atherosclerosis in CKD.…”

“…In our study, the distribution frequencies of FokI polymorphism in HD patients were 64% had FF genotype, 36% had Ff, and 0% were ff genotype while the FF genotype was in the control group 53.3%, Ff was 0%, and ff were 46.7% which was highly significant. In an Egyptian study done by El-Attar et al, they found the distribution frequencies of FokI polymorphism were FF, Ff, and ff genotypes inpatient group 57.1 %, 31.4 %, and 11.4 %, respectively; while in the control group were 56.7 %, 40 %, and 3.3 % respectively and they concluded that there was no significant difference in the genotype distribution of FokI polymorphism among the control group and the total patients' group [12] . In another study, the prevalence of genotypes for FokI polymorphism was 32.6% FF, 39.1% Ff, and 28.3% ff, in Iranian HD [21] .…”

Some genetic differences in patients with rheumatoid arthritis

“…Against the study results, another study found that between the VDR genotypes determined by PCR, there was no detectable variation in serum PTH levels for diabetic patients in a study analyzed by PCR–RFLP of the VDR gene in 877 Japanese hemodialysis patients [ 36 ]. Also, the variant alleles of the BsmI and FokI genes were not linked to the emergence of renal disease or secondary hyperparathyroidism among a sample of Egyptian patients on maintenance hemodialysis [ 37 ].…”