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Genetic studies

Many institutes across Europe have established cohorts of RA patients in order to investigate various measurements of disease expression, but until now many of these collections have not been characterised for genetic markers of disease susceptibility. Recent studies including genome wide association studies of RA have revealed a number of confirmed and potential RA genetic susceptibility variants (1–5). It is important to validate these associations in independent cohorts in different populations in order to determine their importance in determining susceptibility to inflammatory arthritis. Integrating genotype information with measurements of disease expression will also result in a more comprehensive evaluation of these patient cohorts, and permit a better understanding of the mechanisms that underpin the disease. Understanding of genetic variability within these cohorts will enhance the development of more accurate models of disease expression that will allow the prediction of RA outcome with greater accuracy.

 

 

The study proposed requires the collection of a small amount of blood (10 mls) for DNA and serum, (and/or serologic data) and information on cigarette smoking habits, from patients with RA – and where available healthy controls (comparison group). These material/data will be sent to the arthritis research campaign Epidemiology Unit (arc-EU) within The University of Manchester, Manchester UK, as part of the AutoCure pan European research endeavour (www.autocure.org). Once samples from each institute have been received in Manchester, genetic association studies, of genes that may determine susceptibility to RA, will be performed on these samples, and results of genetic studies will be combined with serologic information. If serology information is missing, serologic markers will be characterised, where possible, in available serum samples. Allele and genotype frequencies for individual genetic variants will be compared between patient and control groups and strata of patients with different serologic or phenotypic profiles.

 

 

These data will be fed back to the primary investigator for each contributing centre, providing them with invaluable genetic information to assist in their own empirical studies. Researchers undertaking genotyping and data analysis will have no access to personal data. Researchers working within each institute will identify individuals who are eligible to take part in this study. A unique anonymisedidentifier will be assigned to each patient before it is sent to the arc-EU. Anonymised DNA samples will be stored in freezers at the arc-EU and managed on a fully integrated laboratory information management system (LIMS). Data generated from genotyping studies will be held on a secure database and will be stored whilst the analysis is completed. Access to the complete data will be restricted to researchers within the arc-EU.
Results of these analyses for each cohort will be fed back to researchers in each institute and summary results generated by this work will be disseminated via presentations at conferences and publication in peer reviewed scientific journals. Data generated in this activity will enable researchers to develop approaches for better characterisation of this heterogeneous condition by relating genotype to other measurements of disease expression that are already the focus of much research.

PI: Professor Jane Worthington, University of Manchester

Second issue of the AutoCure newsletter, AutoCurious:

 

 

 
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