title: Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q fever fatigue syndrome.
abstract: Acute primary Q fever is followed by various chronic sequelae. These include subacute Q fever endocarditis, granulomatous reactions in various organs or a prolonged debilitating post-infection fatigue syndrome (QFS). The causative organism, Coxiella burnetii, persists after an initial infection. The differing chronic outcomes may reflect variations within cytokine and accessory immune control genes which affect regulation of the level of persistence. As a preliminary test of the concept we have genotyped QFS patients and controls for gene variants spanning 15 genes and also examined HLA-B and DR frequencies. QFS patients exhibited a significantly increased frequency of HLA-DR-11 compared with controls and also significant differences in allelic variant frequencies within the NRAMP, and IFNgamma genes. These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of chronic Q fever and to examine Q fever patients who have recovered without sequelae.
authors.affiliation: Q Fever Research Group, IMVS, Adelaide, South Australia. kjhelbig@hotmail.com
authors.forename: K J
authors.initials: KJ
authors.lastname: Helbig
authors.forename: S L
authors.initials: SL
authors.lastname: Heatley
authors.forename: R J
authors.initials: RJ
authors.lastname: Harris
authors.forename: C G
authors.initials: CG
authors.lastname: Mullighan
authors.forename: P G
authors.initials: PG
authors.lastname: Bardy
authors.forename: B P
authors.initials: BP
authors.lastname: Marmion
mesh_terms: D027682:Cation Transport Proteins / Q000235:genetics; D016009:Chi-Square Distribution; D015673:Fatigue Syndrome, Chronic / Q000235:genetics* / Q000276:immunology*; D005787:Gene Frequency / Q000235:genetics / Q000276:immunology; D005802:Genes, MHC Class II / Q000235:genetics*; D014644:Genetic Variation / Q000276:immunology*; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics; D009010:Monte Carlo Method; D011778:Q Fever / Q000235:genetics* / Q000276:immunology*; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D007371:Interferon-gamma; D000099173:Natural Resistance-associated Macrophage Protein 1