Rheumatology 1999; 38: 1094-1098
© 1999 British Society for Rheumatology
A case–control study of candidate vasoactive mediator genes in primary Raynaud's phenomenon
Department of Rheumatology, Musgrave Park Hospital, Stockman's Lane, Belfast BT9 5LQ and
1 School of Clinical Medicine and Division of Molecular Medicine, The Queen's University of Belfast, Belfast, UK
Correspondence to:
A. E. Smyth, Department of Rheumatology, Musgrave Park Hospital, Belfast BT9 5LQ, UK.
Objectives. To elucidate possible genetic factors involved in the pathogenesis of primary Raynaud's phenomenon (RP) and to determine the demographic features.
Methods. The allele frequencies of known polymorphisms in four vasoactive candidate genes, eNOS, BKRG, ET-1 and the ETA receptor genes, were compared in a phenotypically homogeneous group of patients with primary RP and a normal control population.
Results. In patients with primary RP, there was a higher reporting of both a family history of RP than in controls (45.3% vs 3.1%; P<0.0001) and a personal history of migraine (32.6% vs 7.2%; P<0.0001). No significant differences in allele frequencies of the candidate genes were found.
Conclusions. These findings support the concept that genetic susceptibility exists in primary RP. The high prevalence of migraine suggests that primary RP is part of a more widespread disorder of vascular tone. These findings do not suggest that common molecular variants of these candidate genes are involved in primary RP.
KEY WORDS: Primary Raynaud's, Candidate genes, Familial, Endothelin-1, Nitric oxide, Bradykinin