학술논문

Variation at HLA-DRB1 is associated with resistance to enteric fever.
Document Type
Article
Source
Nature Genetics. Dec2014, Vol. 46 Issue 12, p1333-1336. 4p. 1 Chart, 1 Graph.
Subject
*TYPHOID fever
*SALMONELLA enterica serovar Typhi
*PUBLIC health
*INDUSTRIALIZATION
*WATER purification
RISK factors
Language
ISSN
1061-4036
Abstract
Enteric fever affects more than 25 million people annually and results from systemic infection with Salmonella enterica serovar Typhi or Paratyphi pathovars A, B or C1. We conducted a genome-wide association study of 432 individuals with blood culture-confirmed enteric fever and 2,011 controls from Vietnam. We observed strong association at rs7765379 (odds ratio (OR) for the minor allele = 0.18, P = 4.5 × 10−10), a marker mapping to the HLA class II region, in proximity to HLA-DQB1 and HLA-DRB1. We replicated this association in 595 enteric fever cases and 386 controls from Nepal and also in a second independent collection of 151 cases and 668 controls from Vietnam. Imputation-based fine-mapping across the extended MHC region showed that the classical HLA-DRB1*04:05 allele (OR = 0.14, P = 2.60 × 10−11) could entirely explain the association at rs7765379, thus implicating HLA-DRB1 as a major contributor to resistance against enteric fever, presumably through antigen presentation. [ABSTRACT FROM AUTHOR]