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Association of an interleukin 1B gene polymorphism (−511) with Parkinson's disease in Finnish patients
  1. K M Mattila1,2,
  2. J O Rinne3,
  3. T Lehtimäki1,
  4. M Röyttä4,
  5. J-P Ahonen5,
  6. M Hurme6
  1. 1Department of Clinical Chemistry, Tampere University Hospital, Tampere, Finland
  2. 2Department of Neurology, Medical School, University of Tampere, Tampere, Finland
  3. 3Department of Neurology, University of Turku, Turku, Finland
  4. 4Department of Pathology, University of Turku, Turku, Finland
  5. 5Department of Neurology, Tampere University Hospital, Tampere, Finland
  6. 6Department of Microbiology/Immunology, Medical School, University of Tampere, Tampere, Finland
  1. Correspondence to:
 Dr K M Mattila, Medical School, Building B, FIN-33014, University of Tampere, Finland;
 kari.m.mattila{at}uta.fi

https://doi.org/10.1136/jmg.39.6.400

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    Alzheimer's disease (AD) and Parkinson's disease (PD) are the two most common neurodegenerative conditions characterised by the presence of abnormal accumulation of proteins and loss of neurones in specific regions of the brain. The aetiology and pathogenesis of AD and PD still remain largely unknown. Evidence has emerged that immune mediated mechanisms may be important in the development of these disorders,1,2 and cytokine interleukin 1 (IL1) is one of the mediators suggested to be involved.

    The IL1 family comprises three proteins, the proinflammatory IL1α and IL1β and their inhibitor IL1 receptor antagonist (IL1Ra), which are encoded by the IL1A, IL1B, and IL1RN genes respectively.3 Since IL1 may have a role in AD4–8 and in PD,9,10 variation in the IL1A, IL1B, and IL1RN genes may be of importance in the development of these disorders. There is already some evidence in support of this, including the postulated association of the IL1A (−889) *2/*2 genotype with AD11 and the influence of the IL1B (−511) *1/*1 genotype on age at onset of PD.12 However, validation in different population groups is needed to determine whether polymorphisms located in the IL1A, IL1B, and IL1RN genes represent actual susceptibility factors for AD and PD. In the present study, our purpose was to investigate whether polymorphisms of the IL1 cluster genes are associated with the risk of AD or PD in Finnish patients.

    MATERIALS AND METHODS

    Ethical approval for the investigation was obtained from the local Hospital Ethical Committees. All patients and controls enrolled in the study were from western Finland. The AD group consisted of 92 sporadic late onset (>65 years) patients (63 women, 29 men). Thirty-eight patients (mean age at onset 73.7 years (SD 4.9)) met the clinical diagnostic criteria of the NINCDS-ADRDA Work …

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