TY - JOUR KW - Adenine KW - Adult KW - Aged KW - Alanine KW - Alleles KW - Asparagine KW - Case-Control Studies KW - Cell Adhesion Molecules, Neuronal KW - Female KW - genotype KW - Humans KW - leprosy KW - Male KW - Middle Aged KW - Mycobacterium leprae KW - Nerve Degeneration KW - Nerve Growth Factors KW - polymerase chain reaction KW - Polymorphism, Restriction Fragment Length KW - Polymorphism, Single Nucleotide KW - Risk Factors AU - Graça C AU - Paschoal V AU - Cordeiro-Soubhia R AU - Tonelli-Nardi SM AU - Machado R AU - Kouyoumdjian JA AU - Baptista Rossit A AB -

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.

BT - Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases C1 - http://www.ncbi.nlm.nih.gov/pubmed/22326538?dopt=Abstract C2 - The Netherlands CY - Amsterdam DA - 2012 Apr DO - 10.1016/j.meegid.2012.01.023 IS - 3 J2 - Infect. Genet. Evol. LA - eng N2 -

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.

PB - Elsevier Science PP - Amsterdam PY - 2012 SP - 597 EP - 600 T2 - Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases TI - NINJURIN1 single nucleotide polymorphism and nerve damage in leprosy. VL - 12 SN - 1567-7257 ER -