GENETIC MUTATION AT 567C/G OF BONE MORPHOGENETIC PROTEIN-6 REVEALS NO SIGNIFICANT INVOLVEMENT OF PATHOLOGICAL PROGRESSION IN SICKLE-CELL DISEASE WITH ORTHOPEDIC COMPLICATIONS BUT STRONGLY ASSOCIATED WITH INCREASED LACTATE DEHYDROGENASE AND URIC ACID LEVEL IN INDIAN PATIENTS FROM CHHATTISGARH AND JHARKHAND STATE

Background and objectives: Sickle cell disease has numerous consequences; one of the most characteristic is orthopedic complications. Bone Mo rphogenetic Proteins (BMPs) are involved in the various orthopedic complications and play important role in bone physiology influencing bone growth, turnover, bone formation and cartilage induction. W e investigate a possible association of sickle cell disease with orthopedic disorders through BMP6 gene polymorphism. Methods: Among the population studied in Chhattisgarh and Jharkhand states (a tot al of 200 cases and 172 control groups), the association was examined between SNP 567C/G of BMP6 and orthopedic complications in sickling patients by employing PCR-RFLP and biochemical analysis. Results: 567C/G SNP has not been implicated in disease and doesn’t increase the risk (OR = 1.27 OR = 0.85). We observed no significant association between the 567C/G polymorphism and case group in the studied population (P = 0.64, P = 0.91, respectively). However, significantly elevate d Uric Acid (UA) level (P = 0.0001, P = 0.0001, P = 0.0001 and P = 0.0001, P = 0.0001, P = 0.0001 respe ctively) and Lactate Dehydrogenase (LDH) level (P = 0.0001, P = 0.0001, P = 0.0001 and P = 0.0001, P = 0.0001, P = 0.0001 respectively) in GG, CG and CC in case group as compared to control group a mong the studied population. Interpretation and Conclusions: 567C/G polymorphism in BMP6 gene is not associated with case group and in view of present observation, we suggest that evaluation of LDH and UA level and its association with polymorphisms in the BMP6 may be considered as a reliable molecular and bioc hemical markers possesses promising rational for diagnostic potenti al in clinical cases.