Association of CD209 (DC-SIGN) rs735240 SNV with paucibacillary leprosy in the Brazilian population and its functional effects



Document title: Association of CD209 (DC-SIGN) rs735240 SNV with paucibacillary leprosy in the Brazilian population and its functional effects
Journal: Memorias do Instituto Oswaldo Cruz
Database: PERIÓDICA
System number: 000452407
ISSN: 0074-0276
Authors: 1
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Institutions: 1Faculdade de Medicina de Botucatu, Programa de Pos-graduacao em Doencas Tropicais, Botucatu, Sao Paulo. Brasil
2Secretaria de Saude do Estado de Sao Paulo, Instituto Lauro de Souza Lima, Bauru, Sao Paulo. Brasil
3Fundacao Oswaldo Cruz, Instituto Oswaldo Cruz, Rio de Janeiro. Brasil
4University of Birmingham, College of Medical and Dental Sciences, Edgbaston, Birmingham. Reino Unido
Year:
Volumen: 117
Country: Brasil
Language: Inglés
Document type: Artículo
Approach: Analítico, descriptivo
English abstract BACKGROUND Leprosy, caused by Mycobacterium leprae, is a public health problem in Brazil that affects peripheral nerves, resulting in physical disabilities. During host-pathogen interactions, the immune response determines leprosy outcomes from a localised (paucibacillary) form to a disseminated (multibacillary) form. The recognition of M. leprae involves the DC-SIGN receptor, which is present on the dendritic cells (DCs) and participates in immune activation. OBJECTIVES To evaluate the association of polymorphisms in the promoter region of the gene encoding DC-SIGN (CD209) and the clinical form of leprosy, and to investigate its functional effects. METHODS The study population included 406 leprosy patients from an endemic area in Brazil [310 multibacillary (MB); 96 paucibacillary (PB)]. A functional evaluation based on the effects of the single nucleotide variant (SNV) associated with PB leprosy on the specific immune response was also performed. RESULTS The GA genotype and the presence of the A allele of rs735240 (-939G>A) were associated with PB leprosy [OR: 2.09 (1.18-3.69) and 1.84 (1.07-3.14), respectively]. Carriers of the A allele showed reduced expression of CD209 and TGF-β1 in leprosy lesions in comparison with individuals with GG genotype, in addition to a higher response to the Mitsuda test. CONCLUSION These data suggest that rs735240 influences the immune response against M. leprae and clinical presentation of leprosy
Disciplines: Medicina
Keyword: Dermatología,
Parasitología,
Lepra,
Polimorfismos de nucleótido único (SNPs),
Mycobacterium leprae
Keyword: Dermatology,
Parasitology,
Leprosy,
Single nucleotide polymorphism (SNPs),
Mycobacterium leprae
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