Association of TNFSF8 regulatory variants with excessive inflammatory responses but not leprosy per se
s.l; s.n; 2015. 10 p. ilus, tab, graf.
No convencional
en Inglés
| Sec. Est. Saúde SP, HANSEN, Hanseníase, SESSP-ILSLPROD, Sec. Est. Saúde SP, SESSP-ILSLACERVO, Sec. Est. Saúde SP
| ID: biblio-1095300
Biblioteca responsable:
BR191.1
Ubicación: BR191.1; 9538/S
ABSTRACT
BACKGROUND:
Type 1 reactions (T1R) affect a considerable proportion of patients with leprosy. In those with T1R, the host immune response pathologically overcompensates for the actual infectious threat, resulting in nerve damage and permanent disability. Based on the results of a genome-wide association study of leprosy per se, we investigated the TNFSF15 chromosomal region for a possible contribution to susceptibility to T1R.METHODS:
We performed a high-resolution association scan of the TNFSF15 locus to evaluate the association with T1R in 2 geographically and ethnically distinct populations a family-based sample from Vietnam and a case-control sample from Brazil, comprising a total of 1768 subjects.RESULTS:
In the Vietnamese sample, 47 single-nucleotide polymorphisms (SNPs) overlapping TNFSF15 and the adjacent TNFSF8 gene were associated with T1R but not with leprosy. Of the 47 SNPs, 39 were cis-expression quantitative trait loci (cis-eQTL) for TNFSF8 including SNPs located within the TNFSF15 gene. In the Brazilian sample, 18 of these cis-eQTL SNPs overlapping the TNFSF8 gene were validated for association with T1R.CONCLUSIONS:
Taken together, these results indicate TNFSF8 and not TNFSF15 as an important T1R susceptibility gene. Our data support the need for infection genetics to go beyond genes for pathogen control to explore genes involved in a commensurate host response.
Texto completo:
Disponible
Colección:
Bases de datos nacionales
/
Brasil
Contexto en salud:
ODS3 - Salud y Bienestar
/
Enfermedades Desatendidas
Problema de salud:
Meta 3.3: Poner fin a las enfermedades desatendidas y detener enfermedades transmisibles
/
Lepra
/
Enfermedades Desatendidas
Base de datos:
HANSEN
/
Hanseníase
/
Sec. Est. Saúde SP
/
SESSP-ILSLACERVO
/
SESSP-ILSLPROD
Asunto principal:
Mapeo Cromosómico
/
Predisposición Genética a la Enfermedad
/
Polimorfismo de Nucleótido Simple
/
Ligando CD30
/
Miembro 15 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral
/
Estudios de Asociación Genética
/
Lepra
Tipo de estudio:
Estudio pronóstico
/
Factores de riesgo
Límite:
Humanos
Idioma:
Inglés
Año:
2015
Tipo del documento:
No convencional