RESUMO
Single nucleotide polymorphisms (SNPs) in the regulatory region shared by PARK2 and PACRG have been identified as major risk factors for leprosy susceptibility in two ethnically distinct populations. We investigated the association of six SNPs present in this regulatory region with leprosy susceptibility in an Indian population. Genotyping was performed by direct PCR sequencing in 286 leprosy patients and 350 healthy controls. Our results showed that T allele of SNPs PARK2_e01 (-2599) and 28 kb target_2_1 was significantly associated with susceptibility to leprosy per se (P=0.03 and 0.03, respectively). The T allele of SNPs PARK2_e01 (-2599) showed a significant recessive effect (P=0.04) in susceptibility to leprosy in Indian population as against the dominant effect of haplotype T-C of the major risk SNPs PARK2_e01 (-2599) and rs1040079 in Brazilian and Vietnamese population. However, after bonferroni corrections, these significant differences disappeared. Haplotype analysis also showed a lack of significant association of any haplotype with cases or controls. The noninvolvement of major risk SNPs in the regulatory region of PARK2 and PACRG locus with leprosy susceptibility in Indian population highlights the differential effect of these SNPs in regulating genetic susceptibility to leprosy in different populations.
Assuntos
Predisposição Genética para Doença , Hanseníase/genética , Chaperonas Moleculares/genética , Polimorfismo de Nucleotídeo Único , Ubiquitina-Proteína Ligases/genética , Adolescente , Adulto , Feminino , Frequência do Gene , Haplótipos , Humanos , Índia , Masculino , Proteínas dos Microfilamentos , Pessoa de Meia-Idade , Sequências Reguladoras de Ácido NucleicoRESUMO
The coexistence of leprosy with neurofibromatosis is a rare finding and can pose a diagnostic dilemma. Neurofibromatosis coexisting with borderline tuberculoid leprosy has previously not been reported. We report such a case in a 13-year-old boy where biopsy of clinically uninvolved nerve revealed the presence of acid-fast bacilli. A careful diagnostic workup is needed in such cases to ensure proper treatment. Both disorders affect Schwann cells and their relationship merits further consideration.