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ASSOCIATION OF VITAMIN D RECEPTOR GENE FOKI (RS 107358510)
POLYMORPHISM IN RENAL STONE FORMATION IN SUDANESE PATIENTS
Layla Mohamed Ali Abdalla & Ghada Hassan Hag Ali
ABSTRACT Background: renal stone is increasingly serious issue in many parts of the world including Sudan. The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to several diseases including renal stone. Aim: study was conducted to evaluate genetic polymorphism of VDR Fok1 in Sudanese patients with renal stone.
Methods: A case control study was conducted on 40 patients with renal stone and 40 healthy controls, blood samples were collected for DNA extraction. Demographic data and other data regarding life style and family history were obtained using pre-designed questionnaire. Genomic DNA was extracted from blood by guanidine chloride method. SNP of Vitamin D Receptor (VDR) Fok1 gene were analyzed using (PCR) and (RFLP). Statistical analysis was done using SPSS. Genotype distribution and allelic frequencies were compared between patients and controls.
Results: showed that the most affected age group was (51-60) year. The highest incidence of patients groups was among males – females, the most affected ethnic groups are Afro Asiatic (65%), most stones localized in kidneys (82.5%), the highest incidence of patients group regarding to BMI was normal weight (42.5%) , main diet type among patients was meat (47.5%), main source of water among patients was wells source (67%), (50%) of patients had urinary tract infection, the incidence of recurrent was (50%),and among patients (72.5%) had family history.
For molecular analysis result of RFLP digestion for both patient and control showed presence of polymorphism which was detected using (FokI) restriction enzyme. The wild type homozygote (FF) showed one band (265 base pair bp); heterozygote (Ff) three bands (265, 196 and 69 bp) and mutant homozygote (ff) two bands (196 and 69 bp). Most common genotype for renal stone patients is Ff representing (60%); the most common genotype for controls subjects was FF representing (82.5%). Conclusion: From this study the genotype frequencies of all genotypes of VDR Fok1 showed significant differences in genetics model between patients and controls (P = 0.000).
Presented by: Layla Mohamed Ali Abdalla, Teaching Assistance as a part-timer, Omdurman Islamic University.