overlapping genetic susceptibility variants between three autoimmune disorders rheumatoid arthritis, type 1 diabetes and coeliac disease重叠的遗传易感性之间的变异三个自身免疫性疾病风湿性关节炎,1型糖尿病和腹腔疾病.pdfVIP

Eyre et al. Arthritis Research Therapy 2010, 12:R175 /content/12/5/R175 RESEARCH ARTICLE Open Access Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease 1* 1 1 1 1 2 3 Stephen Eyre , Anne Hinks , John Bowes , Edward Flynn , Paul Martin , Anthony G Wilson , Ann W Morgan , 3 4 5 5 6 6 Paul Emery , Sophia Steer , Lynne J Hocking , David M Reid , Pille Harrison , Paul Wordsworth , Yorkshire Early Arthritis (YEAR) Consortium, Biologics in RA Control (BIRAC) Consortium, Wendy Thomson1, 1 1 Jane Worthington , Anne Barton Abstract Introduction: Genome wide association studies, replicated by numerous well powered validation studies, have revealed a large number of loci likely to play a role in susceptibility to many multifactorial diseases. It is now well established that some of these loci are shared between diseases with similar aetiology. For example, a number of autoimmune diseases have been associated with variants in the PTPN22, TNFAIP3 and CTLA4 genes. Here we have attempted to define overlapping genetic variants between rheumatoid arthritis (RA), type 1 diabetes (T1D) and coeliac disease (CeD). Methods: We selected eight SNPs previously identified as being associated with CeD and six T1D-associated SNPs for validation in a sample of 3,962 RA patients and 3,531 controls. Genotyping was performed using the Sequenom MassArray platform and comparison of genotype and allele frequencies between cases and controls was undertaken. A trend test P-value 0.004 was regarded as sign