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PMID: 15018649 Published · epublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Complex genetic predisposition in adult and juvenile rheumatoid arthritis.

BMC genetics ·Vol. 5 ·2004-02-04 ·Pages 2

Miterski B, Drynda S, Böschow G, Klein W, Oppermann J, Kekow J, Epplen JT

Abstract

Rheumatoid arthritis (RA) and juvenile rheumatoid arthritis (JRA) are complex multifactorial diseases caused by environmental influences and an unknown number of predisposing genes. The present study was undertaken in order to investigate association of polymorphisms in candidate genes with RA and JRA in German subjects. Up to 200 unrelated German RA and JRA patients each and 300-400 healthy controls have been genotyped for HLA-DRB1, TNFa, TNFA -238a/g, TNFA -308a/g, TNFA -857c/t, TNFR1 -609g/t, TNFR1 P12P, TNFR2 del 15bp, IKBL -332a/g, IKBL -132t/a, IKBL C224R, CTLA4 -318c/t, CTLA4 T17A, PTPRC P57P, MIF -173g/c, the MIF and IFNG microsatellites as well as for D17S795, D17S807, D17S1821 by polyacrylamide gel electrophoresis, single-strand conformation polymorphism analysis, restriction fragment length polymorphism analysis or allele specific hybridization. None of the investigated genetic markers is associated with both, RA and JRA, but there are some statistically significant differences between patients and controls that have to be discussed sensibly. The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.

MeSH Terms
Adaptor Proteins, Signal Transducing Adult Age of Onset Aged Alleles Antigens, CD/genetics Antigens, Differentiation/genetics Arthritis, Juvenile/genetics Arthritis, Rheumatoid/genetics CTLA-4 Antigen Child DNA/genetics Female Gene Frequency Genetic Predisposition to Disease/genetics Genotype Germany HLA-DR Antigens/genetics HLA-DRB1 Chains Histocompatibility Antigens Class II/genetics Humans Interferon-gamma/genetics Leukocyte Common Antigens/genetics Macrophage Migration-Inhibitory Factors/genetics Male Microsatellite Repeats/genetics Middle Aged Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Receptors, Tumor Necrosis Factor/genetics Receptors, Tumor Necrosis Factor, Type I Receptors, Tumor Necrosis Factor, Type II Tumor Necrosis Factor-alpha/genetics
Chemicals
Adaptor Proteins, Signal Transducing Antigens, CD Antigens, Differentiation CTLA-4 Antigen CTLA4 protein, human HLA-DR Antigens HLA-DRB1 Chains Histocompatibility Antigens Class II Macrophage Migration-Inhibitory Factors NFKBIL1 protein, human Receptors, Tumor Necrosis Factor Receptors, Tumor Necrosis Factor, Type I Receptors, Tumor Necrosis Factor, Type II Tumor Necrosis Factor-alpha Interferon-gamma DNA Leukocyte Common Antigens
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Miterski Bianca
Department of Human Genetics, Ruhr-University Bochum, Germany. miterski@eurogen.de
Drynda Susanne
Böschow Gundula
Klein Wolfram
Oppermann Joachim
Kekow Jörn
Epplen Jörg Thomas
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Article Info
Journal
BMC genetics
Abbr.
BMC Genet
ISSN
1471-2156
DOI
10.1186/1471-2156-5-2
Email
miterski@eurogen.de
Published
2004-02-04
Epub
2004-00-04
Pages
2
Language
English
Region
England
NLM ID
100966978
PMCID
PMC356909
Subset
IM
External Links
PubMed source DOI: 10.1186/1471-2156-5-2 PMC Full Text View journal details
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