02972nas a2200457   4500000000100000008004100001260004200042653001200084653001000096653000900106653001200115653001200127653001500139653002500154653003800179653001100217653001300228653001100241653001200252653000900264653001600273653002500289653002300314653002500337653003000362653004600392653003600438653001700474100001300491700001500504700002300519700002100542700001400563700002000577700002200597245007400619300001200693490000700705520178800712022001402500       2012                            d  c2012 AprbElsevier ScienceaAmsterdam10aAdenine10aAdult10aAged10aAlanine10aAlleles10aAsparagine10aCase-Control Studies10aCell Adhesion Molecules, Neuronal10aFemale10agenotype10aHumans10aleprosy10aMale10aMiddle Aged10aMycobacterium leprae10aNerve Degeneration10aNerve Growth Factors10apolymerase chain reaction10aPolymorphism, Restriction Fragment Length10aPolymorphism, Single Nucleotide10aRisk Factors1 aGraça C1 aPaschoal V1 aCordeiro-Soubhia R1 aTonelli-Nardi SM1 aMachado R1 aKouyoumdjian JA1 aBaptista Rossit A00aNINJURIN1 single nucleotide polymorphism and nerve damage in leprosy.  a597-6000 v123 a<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>  a1567-7257