# Host Genetic Factors in Q Fever Susceptibility

**Authors:** José-María Robaina Bordón, José-Luis Pérez-Arellano, Olga Montes-Ares, Alberto Torio-Ruiz, Michele Hernández-Cabrera, Elena Pisos-Álamo, Cristina Carranza-Rodríguez

PMC · DOI: 10.3390/pathogens14040394 · Pathogens · 2025-04-18

## TL;DR

This study investigates how host genetic factors, particularly HLA-DRB1 variants, may influence susceptibility to Q fever.

## Contribution

The study identifies a potential role of HLA-DRB1*04 in Q fever susceptibility, suggesting implications for vaccination and risk assessment.

## Key findings

- No significant associations were found for TLR2 and TLR4 polymorphisms in Q fever susceptibility.
- HLA-DRB1*04 was more frequent in patients with acute Q fever compared to controls.
- The findings suggest HLA-DRB1 variants may influence Q fever susceptibility.

## Abstract

Several indirect findings suggest that host-related factors influence susceptibility to Coxiella burnetii infection. We decided to explore the influence of genetic factors related to both innate and adaptive immunity in acute Q fever susceptibility. TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) polymorphisms, along with HLA-DRB1 alleles, were analyzed for 38 patients with acute Q fever, 38 matched controls, and 121 blood donors. No significant associations were found for TLR polymorphisms. However, HLA-DRB1*04 was more frequent in patients. HLA-DRB1 variants may play a role in Q fever susceptibility, supporting the need for further investigation into their potential implications for vaccination and risk assessment.

## Linked entities

- **Genes:** TLR2 (toll like receptor 2) [NCBI Gene 7097], TLR4 (toll like receptor 4) [NCBI Gene 7099], HLA-DRB1 (major histocompatibility complex, class II, DR beta 1) [NCBI Gene 3123]
- **Diseases:** Q fever (MONDO:0019186)

## Full-text entities

- **Genes:** HLA-DRB1 (major histocompatibility complex, class II, DR beta 1) [NCBI Gene 3123] {aka DRB1, HLA-DR1B, HLA-DRB, SS1}, TLR4 (toll like receptor 4) [NCBI Gene 7099] {aka ARMD10, CD284, TLR-4, TOLL}, TLR2 (toll like receptor 2) [NCBI Gene 7097] {aka CD282, TIL4}
- **Diseases:** Coxiella burnetii infection (MESH:D011778)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** Arg753Gln, Thr399Ile, Asp299Gly

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12030616/full.md

## References

19 references — full list in the complete paper: https://tomesphere.com/paper/PMC12030616/full.md

---
Source: https://tomesphere.com/paper/PMC12030616