A case-control study of candidate vasoactive mediator genes in primary Raynaud's phenomenon.
OBJECTIVE
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.
Smyth
A E
AE
Department of Rheumatology, Musgrave Park Hospital, Stockman's Lane, Belfast BT9 5LQ, UK.
Hughes
A E
AE
Bruce
I N
IN
Bell
A L
AL
D000328:Adult; D016022:Case-Control Studies; D019332:Endothelin-1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D019001:Nitric Oxide Synthase / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III; D011928:Raynaud Disease / Q000453:epidemiology / Q000235:genetics*; D044022:Receptor, Endothelin A; D018002:Receptors, Bradykinin / Q000235:genetics; D017466:Receptors, Endothelin / Q000235:genetics
D019332:Endothelin-1; D005819:Genetic Markers; D044022:Receptor, Endothelin A; D018002:Receptors, Bradykinin; D017466:Receptors, Endothelin; C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III