Mutation -538 T/C in bone morphogenetic protein 4 do not increase the risk in sickle-cell disease with orthopedic complications but strongly associated with increased LDH and uric acid level in Indian patients from Chhattisgarh and Jharkhand states.

摘要

BACKGROUND: Bone morphogenetic protein (BMP) are involved in the various orthopedic complications such as avascular necrosis, osteonecrosis and bone turnover, therefore genes coding for proteins, like BMP4, can be potential candidate for studying orthopedic disorders. METHODS: A case-control study was conducted to examine the association between SNP T538C of BMP4 and orthopedic complications in sickling patients by employing PCR-RFLP. RESULTS: A total of 200 cases and 172 control groups were studied from Indian population. T538C SNP has not been implicated in disease and doesn't increase the risk (OR=0.89, OR=0.68). We observed no significant association between the T538C polymorphism and case group in the studied population. However, we observed significantly increased uric acid and LDH level in homowild (TT), heteromutant (TC) and homomutant (CC) in case group compared to control group ( all p=0.0001) and (p=0.0001, p=0.0001, p=0.015 and p=0.0001, p=0.0001, p=0.0001 respectively) in the studied population. CONCLUSIONS: The T/C polymorphism in BMP4 is not associated with case group and in view of present observation, we suggest that evaluation of LDH and uric acid level and its association with polymorphisms in the BMP4 may be considered to be reliable molecular and biochemical markers, and possess promising rational for diagnostic potential in clinical cases.