title: Ninjurin 1 asp110ala single nucleotide polymorphism is associated with protection in leprosy nerve damage.
abstract: Leprosy is the major cause of non-traumatic neuropathy. Herein, we investigated the role of ninjurin 1, an adhesion molecule involved in nerve regeneration in leprosy. Our results demonstrated that M. leprae stimulates in vitro up-regulation of ninjurin mRNA in cultured Schwann and blood cells as well as in vivo mRNA and protein expression in leprosy nerve biopsies. A polymorphism (asp110ala) was investigated in a case-control study (1123 individuals) and no association was found with leprosy per se or with disseminated forms. Nevertheless, ala110 was associated with functional nerve impairment (OR=2.42; p=0.02 for ala/ala) and with lower mRNA levels. Our data suggests that asp110ala could be a valuable genetic marker of nerve damage in leprosy.
authors.affiliation: Leprosy Laboratory, Mycobacterioses Department, Oswaldo Cruz Institute, FIOCRUZ, Av. Brasil 4365, Manguinhos, Rio de Janeiro, RJ, Brazil.
authors.forename: Cynthia Chester
authors.initials: CC
authors.lastname: Cardoso
authors.forename: Alejandra Nóbrega
authors.initials: AN
authors.lastname: Martinez
authors.forename: Pedro Edson Moreira
authors.initials: PE
authors.lastname: Guimarães
authors.forename: Camila Teixeira
authors.initials: CT
authors.lastname: Mendes
authors.forename: Antônio Guilherme
authors.initials: AG
authors.lastname: Pacheco
authors.forename: Rosane Barbosa
authors.initials: RB
authors.lastname: de Oliveira
authors.forename: Rosane Magda Brandão
authors.initials: RM
authors.lastname: Teles
authors.forename: Ximena
authors.initials: X
authors.lastname: Illarramendi
authors.forename: Elizabeth Pereira
authors.initials: EP
authors.lastname: Sampaio
authors.forename: Euzenir Nunes
authors.initials: EN
authors.lastname: Sarno
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Dias-Neto
authors.forename: Milton Ozório
authors.initials: MO
authors.lastname: Moraes
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D015816:Cell Adhesion Molecules, Neuronal / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D007918:Leprosy / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009414:Nerve Growth Factors / Q000737:chemistry / Q000235:genetics*; D010525:Peripheral Nerves / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D015854:Up-Regulation / Q000235:genetics