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 |
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| Authors: | Kumar Abhishek Mohammad Sohail Ritesh Kumar PK Patra SB Choudhary |
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| Institution: | 1. Department of Physiology, Faculty of Pharmacy, Institute of Nutrition and Food Technology, University of Granada, Spain;2. Department of Pathophysiology and Allergy Research, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Austria;4. Department of Physical Education, School of Education, University of Cádiz, Spain;5. Ludwig Boltzmann Institute for Experimental and Clinical Traumatology, Austrian Cluster for Tissue Regeneration, AUVA Research Center, Vienna, Austria;6. Karl Donath Laboratory for Hard Tissue and Biomaterial Research, Department of Oral Surgery, Medical University of Vienna, Vienna, Austria;1. Department of Cardiac Surgery, Heart Center Leipzig, University of Leipzig, Leipzig, Germany;2. Department of Health Sciences/Public Health, University of Dresden, Dresden, Germany;3. Department of Urology, University of Leipzig, Leipzig, Germany;4. Ernst-Moritz-Arndt-University Greifswald, Interfaculty Institute of Genetics and Functional Genomics, Department of Functional Genomics, Germany;5. Helmholtz Centre for Environmental Research, Department of Proteomics, Leipzig, Germany;6. Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany;7. Helmholtz Centre for Environmental Research, Department of Metabolomics, Leipzig, Germany;8. Department of Cardiology, University of Leipzig, Heart Center Leipzig, Leipzig, Germany;1. Laboratory of Immunopathology Keizo Asami, Federal University of Pernambuco, Recife -PE, Brazil;2. Department of Biochemistry, Federal University of Pernambuco, Recife -PE, Brazil;3. Post Graduate Program in Genetics, Federal University of Pernambuco, Recife -PE, Brazil;4. Fundation of Hematology and Hemotherapy of Pernambuco, Recife -PE, Brazil |
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| Abstract: | BackgroundBone 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.MethodsA case–control study was conducted to examine the association between SNP T538C of BMP4 and orthopedic complications in sickling patients by employing PCR-RFLP.ResultsA 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.ConclusionsThe 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. |
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