A case-control study of candidate vasoactive mediator genes in primary Raynaud's phenomenon

Objectives. To elucidate possible genetic factors involved in the pathogene sis of primary Raynaud's phenomenon (RP) and to determine the demographic f eatures. Methods. The allele frequencies of known polymorphisms in four vasoactive c andidate genes, eNOS, BKRG, ET-1 and the ETA receptor genes, were compared in a phenotypically homogeneous group of patients with primary RP and a nor mal 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 p ersonal history of migraine (32.6% vs 7.2%; P < 0.0001). No significant dif ferences 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 primar y 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.