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Association of TNFSF8 regulatory variants with excessive inflammatory responses but not leprosy per se.

J. Infect. Dis.2015 Mar 15;211(6):968-77. Epub 2014 Oct 15
Vinicius M Fava 1 , Aurélie Cobat 1 , Nguyen Van Thuc 2 , Ana Carla P Latini 3 , Mariane M A Stefani 4 , Andrea F Belone 3 , Nguyen Ngoc Ba 2 , Marianna Orlova 5 , Jérémy Manry 1 , Marcelo T Mira 6 , Vu Hong Thai 2 , Laurent Abel 7 , Alexandre Alcaïs 8 , Erwin Schurr 1
Vinicius M Fava 1 , Aurélie Cobat 1 , Nguyen Van Thuc 2 , Ana Carla P Latini 3 , Mariane M A Stefani 4 , Andrea F Belone 3 , Nguyen Ngoc Ba 2 , Marianna Orlova 5 , Jérémy Manry 1 , Marcelo T Mira 6 , Vu Hong Thai 2 , Laurent Abel 7 , Alexandre Alcaïs 8 , Erwin Schurr 1
+ et al

[No authors listed]

Author information
  • 1 Program in Immunology and Infectious Diseases in Global Health, Research Institute of the McGill University Health Centre The McGill International TB Centre, Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada.
  • 2 Hospital for Dermato-Venerology, Ho Chi Minh City, District 3, Vietnam.
  • 3 Lauro de Souza Lima Institute, Bauru, São Paulo.
  • 4 Tropical Pathology and Public Health Institute, Federal University of Goiás, Goiânia.
  • 5 The McGill International TB Centre, Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada.
  • 6 Core for Advanced Molecular Investigation, Pontifical Catholic University of Paraná, Curitiba, Brazil.
  • 7 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale University Paris Descartes, Imagine Institute St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.
  • 8 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale University Paris Descartes, Imagine Institute Centre d'Investigation Clinique, Unité de Recherche Clinique, Necker and Cochin Hospitals, Paris, France St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.

摘要

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.

KEYWORDS: TNFSF15, TNFSF8, Type 1 reaction, eQTL, leprosy

基因

TNFSF8

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