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DSIM Årsmødet 6. marts 2009. Arvelighed og Rheumatoid artrit. Reumatologiske sygdomme. En heterogen gruppe af sygdomme, der almindeligvis afficerer bevægeapparatet (bevægeapparatets medicinske sygdomme). Reumatologi. Degenerative sygdomme Inflammatoriske sygdomme

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DSIM Årsmødet 6. marts 2009

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DSIMÅrsmødet 6. marts 2009

Arvelighed og Rheumatoid artrit


Reumatologiske sygdomme

  • En heterogen gruppe af sygdomme, der almindeligvis afficerer bevægeapparatet (bevægeapparatets medicinske sygdomme)


Reumatologi

  • Degenerative sygdomme

  • Inflammatoriske sygdomme

  • Bløddelsgigt (regionale smertetilstande)

  • Bindevævssygdomme

  • Generaliserede smertetilstande

  • Idrætsskader


Reumatologi

  • Inflammatoriske sygdomme

    • Polyartritter

    • Oligoartritter

    • Monartritter

    • Spondylartritter

    • Infektionsrelaterede artritter

    • Krystalartritter

    • Sjældne artropatier


Pedersen JK, Svendsen AJ, Horslev-Petersen K. Incidence of Rheumatoid Arthritis in the Southern part of Denmark from 1995 to 2001. Open Rheumatol J 2007; 1:18-23. 2007 Nov 27.:18-23.


Michou L, Rat AC, Lasbleiz S, Bardin T, Cornelis F. Prevalence and distribution of autoimmune diseases in 368 rheumatoid arthritis families. J Rheumatol 2008; 35(5):790-796.


Jones MA, Silman AJ, Whiting S, Barrett EM, Symmons DP. Occurrence of rheumatoid arthritis is not increased in the first degree relatives of a population based inception cohort of inflammatory polyarthritis. Ann Rheum Dis 1996; 55(2):89-93.


CHARACTERIZING THE QUANTITATIVE GENETIC CONTRIBUTION

TO RHEUMATOID ARTHRITIS USING DATA FROM TWINS

Conclusion. Genetic factors have a substantial

contribution to RA in the population, accounting for

60% of the variation in liability to disease. Although

tempered by power considerations, there is no evidence

in these twin data that the overall genetic contribution

to RA differs by sex, age, age at disease onset, and

disease severity.

MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J, Aho K et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000; 43(1):30-37.


Gregersen, P. K.et al. The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum. 1987.


The contribution of HLA to rheumatoid arthritis

  • Estimates on both population and hospital based data suggest that HLA genes accounts for 37% of genetic contribution to RA

Deighton CM, Walker DJ, Griffiths ID, Roberts DF. The contribution of HLA to rheumatoid arthritis. Clin Genet 1989; 36:178-182.


Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.


Genetic risk factors

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-678.


RA associerede autoantistoffer

  • Reumafaktorer (1940)

  • Anti-filaggrin antistoffer (AFA)

    • Antiperinukleære antistoffer (1964)

    • Antikeratin antistoffer (1979)

  • Anti-CCP antistoffer (2000)


Padyukov, L.et al. A gene-environment interaction between smoking and shared epitope genes in HLA-DR provides a high risk of seropositive rheumatoid arthritis. Arthritis Rheum. 2004.


Vittecoq O et al. Klemmer N. Smoking and inflammatory diseases. Best Pract Res Clin Rheumatol 2008; 22(5):923-935.


Vittecoq O et al. Klemmer N. Smoking and inflammatory diseases. Best Pract Res Clin Rheumatol 2008; 22(5):923-935.


Rheumatoid arthritis

  • We expect more subdivisions to be developed soon when additional biomarkers as well as additional clinically relevant features are identified that associate with different genetic polymorphisms and environmental triggers.


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