Role of Polymorphisms in Adamantiades-Behçet’s Disease

VIRGINIA G. KAKLAMANI; MAUREEN SADIM; YVONI KOUMANTAKI; PHEDON KAKLAMANIS; BORIS PASCHE

doi:10.3899/jrheum.080676

Abstract

Objective

We previously showed that Adamantiades-Behçet’s disease (A-BD) is associated with a lower incidence of malignancy compared with the general population. Transforming growth factor-β (TGF-β) has been shown to play a role in cartilage regeneration and is increased in patients with A-BD. We also found 2 functional polymorphisms of the TGF-β pathway, TGFBR1*6A and TGFB1*CC, that are associated with risk of malignancy. We tested whether incidence of these polymorphisms would differ in patients with A-BD compared with healthy controls of similar age and geographic location.

Methods

We performed a case-control study including 139 cases and 128 controls from Greece. Cases and controls were genotyped for TGFBR1*6A and TGFB1*CC.

Results

We found that cases had lower incidence of TGFBR1*6A compared with controls (11.3% vs 13.3%, respectively). Also, the incidence of TGFB1*CC was lower in cases than controls (24.6% vs 27.0%, respectively). These differences were not statistically significant.

Conclusion

Although there is a suggestion that the lower incidence of TGFBR1*6A in A-BD patients may play a protective role against development of malignancy, larger studies would be needed to fully evaluate the role of TGF-β and its polymorphisms in A-BD.

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Footnotes

V.G. Kaklamani, MD, DSc; M. Sadim, Cancer Genetics Program, Division of Hematology/Oncology, Department of Medicine, and Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University; Y. Koumantaki, MD, Department of Hygiene and Epidemiology, Medical School, Athens University; P. Kaklamanis MD, Department of Rheumatology, Athens Medical Center; B. Pasche, MD, PhD, FACP, Cancer Genetics Program, Division of Hematology/Oncology, Department of Medicine, and Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine.
Supported by grants from the Walter S. Mander Foundation, Chicago, IL, the Jeannik M. Littlefield-AACR Grant in Metastatic Colon Cancer Research; grants CA112520 and CA108741 from the NCI; a Multidisciplinary Clinical Research Centers grant in Rheumatology from the NIH; the Lynn Sage Foundation; and the American Society of Clinical Oncology Career Development Award.
- Accepted for publication July 31, 2008.