QJM Advance Access originally published online on June 13, 2005
QJM 2005 98(8):565-574; doi:10.1093/qjmed/hci086
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Immune response genes in the post-Q-fever fatigue syndrome, Q fever endocarditis and uncomplicated acute primary Q fever
From the 1Q fever Research Group IMVS and Hanson Institute, Adelaide, Australia, 2Department of Environmental and Occupational Medicine, University of Aberdeen, Aberdeen, UK, 3Tissue Typing, Australian Red Cross Blood Service and Research Unit of Transfusion Medicine and Immunogenetics, University of Sydney, Sydney, Australia, 4Medical Sciences, University of New South Wales, Sydney, Australia, and 5Sullivan and Nicolaides Pathology, Brisbane, Australia
Address correspondence to Professor B.P. Marmion, 14 Birksgate Drive, Urrbrae 5064, South Australia.
Received 12 January 2005 and in revised form 6 April 2005
Background: The influence of immune response gene variations on the development of chronic complications of Q fever is presently unclear.
Aim: To compare the frequencies of allelic polymorphisms in immune response genes in different Q fever patient groups.
Design: Genetic association study.
Methods: We measured the frequencies of immune response gene variants in: (i) an expanded group of 31 post-Q-fever fatigue patients (QFS); (ii) 22 Q fever endocarditis patients (QFE); and (iii) 22 patients who made an uncomplicated recovery from their initial attack of primary acute Q fever, comparing them with various standard control panels from the general population.
Results: There were significant differences between the three Q fever groups. QFS patients differed from both QFE and uncomplicated patients and controls in the frequency of carriage of HLA-DRB1*11 and of the 2/2 genotype of the interferon-
intron1 microsatellite. Carriage of the HLA DRB1*11 allele was associated with reduced interferon- and IL-2 responses from PBMC stimulated with ligand in short-term culture. QFE showed differences in the IL-10 promoter microsatellites R and G and had higher frequencies of the TNF-
receptor II 196R polymorphism. Q fever patients who had made an uncomplicated recovery differed from those with QFS or QFE, but were not significantly different in allelic frequencies to the control panels.
Discussion: These immunogenetic differences support the concept of different immune states in chronic Q fever, determined by genetic variations in host immune responses, rather than by solely properties of Coxiella burnetii.
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