Interferon-γ receptor-1 gene polymorphism in tuberculosis patients from Croatia

被引:43
作者
Fraser, DA
Bulat-Kardum, L
Knezevic, J
Babarovic, P
Matakovic-Mileusnic, N
Dellacasagrande, J
Matanic, D
Pavelic, J
Beg-Zec, Z
Dembic, Z
机构
[1] Univ Oslo, IOB, Inst Immunol, N-316 Oslo, Norway
[2] Univ Oslo, Dept Oral Biol, Oslo, Norway
[3] Univ Rijeka, Clin Hosp Ctr, Dept Internal Med, Sect Pulmol, Rijeka, Croatia
[4] Rudjer Boskovic Inst, Div Mol Med, Zagreb, Croatia
关键词
D O I
10.1046/j.1365-3083.2003.01253.x
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Recent studies have indicated that the interleukin-12/interferon-gamma (IFN-gamma) axis is important in mycobacterial infection susceptibility. Using an intronic (CA) (n) polymorphic microsatellite marker within the IFN-gamma receptor-1 (IFNGR1 ) gene, we have compared the allelic frequencies of this marker in hospitalized tuberculosis patients (n = 120) with that of controls (n = 87) from Rijeka, Croatia. We identified 13 (CA) (n) alleles in the tuberculosis patients, whereas only 10 were found in the controls. A significant difference between one allelic marker and the control group was observed (P = 0.02, 95% confidence interval 0.14-0.94), suggesting a possible protective association. In contrast, several other allelic markers showed a trend towards association with the disease. We also found a trend towards an increased frequency in homozygosity of one allelic marker in patients (11.7%) as compared with controls (4.6%). We conclude that there is no evidence for disease association of the IFNGR1 gene marker in Mendelian-type (single-allele) inheritance. However, our results also suggest that unidentified allelic variations in the IFNGR1 gene might elevate or decrease the risk in this ethnic population, as a part of the multigenic predisposition to tuberculosis.
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页码:480 / 484
页数:5
相关论文
共 32 条
[1]   Mendelian susceptibility to mycobacterial infection in man [J].
Altare, F ;
Jouanguy, E ;
Lamhamedi, S ;
Döffinger, R ;
Fischer, A ;
Casanova, JL .
CURRENT OPINION IN IMMUNOLOGY, 1998, 10 (04) :413-417
[2]   Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection [J].
Altare, F ;
Lammas, D ;
Revy, P ;
Jouanguy, E ;
Döffinger, R ;
Lamhamedi, S ;
Drysdale, P ;
Scheel-Toellner, D ;
Girdlestone, J ;
Darbyshire, P ;
Wadhwa, M ;
Dockrell, H ;
Salmon, M ;
Fischer, A ;
Durandy, A ;
Casanova, JL ;
Kumararatne, DS .
JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (12) :2035-2040
[3]   A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNγ in a compound heterozygous child [J].
Altare, F ;
Jouanguy, E ;
Lamhamedi-Cherradi, S ;
Fondanèche, MC ;
Fizame, C ;
Ribiérre, F ;
Merlin, G ;
Dembic, Z ;
Schreiber, R ;
Lisowska-Grospierre, B ;
Fischer, A ;
Seboun, E ;
Casanova, JL .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :723-726
[4]   Genetic susceptibility to tuberculosis in Africans: A genome-wide scan [J].
Bellamy, R ;
Beyers, N ;
McAdam, KPWJ ;
Ruwende, C ;
Gie, R ;
Samaai, P ;
Bester, D ;
Meyer, M ;
Corrah, T ;
Collin, M ;
Camidge, DR ;
Wilkinson, D ;
Hoal-van Helden, E ;
Whittle, HC ;
Amos, W ;
van Helden, P ;
Hill, AVS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (14) :8005-8009
[5]   Genetic dissection of immunity to mycobacteria: The human model [J].
Casanova, JL ;
Abel, L .
ANNUAL REVIEW OF IMMUNOLOGY, 2002, 20 :581-620
[6]   Fine mapping of a putative tuberculosis-susceptibility locus on chromosome 15q11-13 in African families [J].
Cervino, ACL ;
Lakiss, S ;
Sow, O ;
Bellamy, R ;
Beyers, N ;
Hoal-van Helden, E ;
van Helden, P ;
McAdam, KPWJ ;
Hill, AVS .
HUMAN MOLECULAR GENETICS, 2002, 11 (14) :1599-1603
[7]  
COMSTOCK GW, 1978, AM REV RESPIR DIS, V117, P621
[8]  
de Jong R, 1998, SCIENCE, V280, P1435
[9]   Partial interferon-γ receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection [J].
Döffinger, R ;
Jouanguy, E ;
Dupuis, S ;
Fondanèche, MC ;
Stephan, JL ;
Emile, JF ;
Lamhamedi-Cherradi, S ;
Altare, F ;
Pallier, A ;
Barcenas-Morales, G ;
Meinl, E ;
Krause, C ;
Pestka, S ;
Schreiber, RD ;
Novelli, F ;
Casanova, JL .
JOURNAL OF INFECTIOUS DISEASES, 2000, 181 (01) :379-384
[10]   Association of an HLA-DQ allele with clinical tuberculosis [J].
Goldfeld, AE ;
Delgado, JC ;
Thim, S ;
Bozon, MV ;
Uglialoro, AM ;
Turbay, D ;
Cohen, C ;
Yunis, EJ .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1998, 279 (03) :226-228