Reply

S. Young-Min, S. Pearce1 and B. Vaidya1

Departments of Rheumatology and
1 Medicine, The Medical School, University of Newcastle-upon-Tyne, UK

We thank Grennan for the interest shown in our paper [1]. We agree that detailed phenotyping is critical in genetic association studies. Our study further demonstrates the importance of studying patients and controls from a genetically homogeneous population in a geographically defined area. Rheumatoid arthritis is a clinically heterogeneous condition and we agree that it is likely to be genetically heterogeneous. In addition to the expected genetic heterogeneity between different populations with the same disorder, there are a large number of clinical phenotypes of rheumatoid arthritis that may have a degree of genetic control (e.g. the onset may be acute or gradual, the disease progression episodic, sustained or progressive, and there may or may not be extra-articular features or associated autoimmune endocrinopathies). In a perfect world it would be ideal to collect a large, ethnically homogeneous cohort with a single phenotype. However, most centres do not have the necessary resources to achieve this goal and defining each phenotype may be problematic. Our paper reported that heterogeneity at the CTLA4A/G polymorphism in rheumatoid arthritis is associated with manifestations of autoimmune endocrinopathy. This goes some little way to exploring the problems of phenotype heterogeneity in this condition. However, it remains to be seen whether the CTLA4A/G polymorphism has any impact on the clinical manifestations of rheumatoid arthritis itself. We are currently studying this possibility.

References

  1. Vaidya B, Pearce SHS, Charlton S et al. An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies. Rheumatology 2002;41:180–3.[Abstract/Free Full Text]




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