1. NINJURIN1 single nucleotide polymorphism and nerve damage in leprosy.
- Author
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Graça CR, Paschoal VD, Cordeiro-Soubhia RM, Tonelli-Nardi SM, Machado RL, Kouyoumdjian JA, and Baptista Rossit AR
- Subjects
- Adenine metabolism, Adult, Aged, Alanine genetics, Alanine metabolism, Alleles, Asparagine genetics, Asparagine metabolism, Case-Control Studies, Cell Adhesion Molecules, Neuronal metabolism, Female, Genotype, Humans, Leprosy genetics, Leprosy microbiology, Male, Middle Aged, Mycobacterium leprae pathogenicity, Nerve Degeneration microbiology, Nerve Degeneration pathology, Nerve Growth Factors metabolism, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Risk Factors, Cell Adhesion Molecules, Neuronal genetics, Leprosy pathology, Nerve Degeneration genetics, Nerve Growth Factors genetics, Polymorphism, Single Nucleotide
- Abstract
Unlabelled: Leprosy, a chronic infectious disease caused by Mycobacterium leprae, can damage the peripheral nervous system and represents one of the leading causes of nontraumatic neuropathy in some developing countries. The NINJURIN1 is a cell adhesion molecule that provides suitable substrates for repair of Schwann cells after peripheral nerve injury. The single nucleotide polymorphism NINJ1, is the result of a transversion of an adenine to a nucleotide polymorphic cytokine (A→C), responsible for an amino acid exchange of asparagine to alanine at position 110 of the protein (asp110ala)., Objectives: The aim of this study was to investigate the importance of the polymorphism in the NINJ1 gene for neural impairment during leprosy course., Methods: A single nucleotide polymorphism (asp110ala) was searched in 218 leprosy patients and 244 non-leprosy subjects using a polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) method., Results: No statistical differences were observed in the frequency of the asp110ala SNP between leprosy patients versus non-leprosy and multibacillary versus paucibacillary clinical forms. The C allele (ala110) is increased among patients exhibiting nerve impairment (p=0.0379). Also, leprosy patients with the CC genotype (ala/ala) had a higher risk (OR=4.21) of developing nerve disability when compared those carrying the AA genotype (asp/asp) (OR=0.69)., Conclusion: Our results show an association between the studied C allele (ala110) and damage nerve in leprosy patients., Significance: Ninjurin analysis showed that asp110ala could be a valuable prognostic marker, since C allele (ala110) have increased susceptibility to nerve damage., (Copyright © 2012 Elsevier B.V. All rights reserved.)
- Published
- 2012
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