NINJURIN1 single nucleotide polymorphism and nerve damage in leprosy

作者：Graca Carla R^*; Paschoal Vania D A; Cordeiro Soubhia Rosa M; Tonelli Nardi Susilene M; Machado Ricardo L D; Kouyoumdjian Joao A; Baptista Rossit Andrea R

来源：Infection, Genetics and Evolution, 2012, 12(3): 597-600.

DOI：10.1016/j.meegid.2012.01.023

• Ninjurin
• Single nucleotide polymorphism
• Leprosy
• Disability and health
• Disability evaluation

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.

• 出版日期2012-4