Role of cystathionine β synthase gene variant in Sudanese population. Taghreed Mohamed Osman Derar 1,2* , Abdel Galil Mohamed Abdel Gader 3 , Anwaar Ahmed Yousif Kordofani 4 , Sami Habiballa Abdalla 1 , Imran Ali Khan 5 1 College of Applied Studies and Community Services, King Saud University, Riyadh, Saudi Arabia 2 Al Neelain University, Sudan 3 College of Medicine, King Saud University for Health Sciences, Saudi Arabia 4 University of Khartoum, college of Medicine, Sudan 5 Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia Abstract Several studies showed the relation between renal and Cardiovascular Diseases (CVD) with distinct genotypes. The current study aims to investigate the association with 844ins68 polymorphism on Cystathionine β-synthase (CβS) gene in renal and CVD with Sudanese population. In this pilot study, we have opted 150 cases from Khartoum state hospitals, Khartoum, Sudan. We have selected equally controls, renal and CVD (n=50). Peripheral blood was collected to perform the biochemical and molecular analysis. Genomic DNA was isolated to perform the polymerase chain reaction analysis. The current results showed the non-significant analysis with the combination of renal versus controls (OR-0.81 (0.31, 2.10); p=0.66) and CVD versus controls (OR-0.65 (0.26, 1.67); p=0.37). When we correlated renal samples and CVD cases with biochemical data and 844ins68, we found Vitamin B 12 , D, TP, URCA and Folic acid, cholesterol to be associated (p<0.05). In conclusion, our results confirm the role of the negative association of 844ins68 polymorphism in the Sudanese population. It may be due to low sample number, and future studies should be performed with larger sample size with multiple CβS gene SNPs in the world's people. Keywords: Renal, Cardiovascular, CβS gene, 844ins68. Accepted on June 13, 2017 Introduction Cardiovascular Disease (CVD) is leading cause of death, irrespective of race and ethnicity, and is mostly precipitated by cardio metabolic risk and Chronic Kidney Disease (CKD) or End Stage Renal Disease (ESRD) [1]. ESRD patients have high mortality risk as compared with general population. CVD is also a major cause of death in these patients, accounting for 40-50% of total mortality [2]. An earlier study has confirmed patients on chronic dialysis had an 8.8-times increased cardiovascular mortality risk as compared with the general population [3]. Genome-Wide Association Studies (GWASs) have been conducted in recent years and have identified common genetic variants associated with all the main risk factor traits for CVD [4]. Cystathionine β-synthase (CβS) is one of the key enzymes present in transsulfuration pathway, catalysing initial rate-limiting step by converting homocysteine to cystathionine [5]. Metabolism of homocysteine via the transsulfuration pathway is crucial as this helps in maintaining intracellular redox balance. Enzyme defects involved in transsulfuration pathway would lead to homocysteine accumulation of resulting in intracellular redox imbalance and could potentially lead to disease conditions [6]. There are several mutations and polymorphisms in the CβS gene, associated with its function and Homocysteine plasma concentrations [7]. The CβS gene reveals common genetic polymorphism consist 68bp insertion at position 844 (844ins68) [8]. This polymorphism was initially described in homocystinuria patients [9]. Inherited CβS deficiency is acknowledged to be the most frequent cause of homocystinuria in humans [10]. There are no studies carried out in Sudanese population, and this current study aims to investigate the association with 844ins68 polymorphism on CβS gene in renal and CVD with the Sudanese population. ISSN 0970-938X www.biomedres.info Biomed Res- India 2017 Volume 28 Issue 13 6059 Biomedical Research 2017; 28 (13): 6059-6063