@article{22513,
  keywords = {Adenine, Adult, Aged, Alanine, Alleles, Asparagine, Case-Control Studies, Cell Adhesion Molecules, Neuronal, Female, genotype, Humans, leprosy, Male, Middle Aged, Mycobacterium leprae, Nerve Degeneration, Nerve Growth Factors, polymerase chain reaction, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide, Risk Factors},
  author = {Graça C and Paschoal V and Cordeiro-Soubhia R and Tonelli-Nardi SM and Machado R and Kouyoumdjian JA and Baptista Rossit A},
  title = {NINJURIN1 single nucleotide polymorphism and nerve damage in leprosy.},
  abstract = {<p><b>UNLABELLED: </b>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).</p><p><b>OBJECTIVES: </b>The aim of this study was to investigate the importance of the polymorphism in the NINJ1 gene for neural impairment during leprosy course.</p><p><b>METHODS: </b>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.</p><p><b>RESULTS: </b>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).</p><p><b>CONCLUSION: </b>Our results show an association between the studied C allele (ala110) and damage nerve in leprosy patients.</p><p><b>SIGNIFICANCE: </b>Ninjurin analysis showed that asp110ala could be a valuable prognostic marker, since C allele (ala110) have increased susceptibility to nerve damage.</p>},
  year = {2012},
  journal = {Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases},
  volume = {12},
  pages = {597-600},
  month = {2012 Apr},
  publisher = {Elsevier Science},
  address = {Amsterdam},
  issn = {1567-7257},
  doi = {10.1016/j.meegid.2012.01.023},
  language = {eng},
}