Smyth A E, Hughes A E, Bruce I N, Bell A L
Department of Rheumatology, Musgrave Park Hospital, Stockman's Lane, Belfast BT9 5LQ, UK.
Rheumatology (Oxford). 1999 Nov;38(11):1094-8. doi: 10.1093/rheumatology/38.11.1094.
To elucidate possible genetic factors involved in the pathogenesis of primary Raynaud's phenomenon (RP) and to determine the demographic features.
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.
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.
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.
阐明原发性雷诺现象（RP）发病机制中可能涉及的遗传因素，并确定其人口统计学特征。
在一组表型同质的原发性RP患者和正常对照人群中，比较了四个血管活性候选基因（eNOS、BKRG、ET-1和ETA受体基因）已知多态性的等位基因频率。
原发性RP患者中，RP家族史的报告率高于对照组（45.3%对3.1%；P<0.0001），偏头痛个人史的报告率也高于对照组（32.6%对7.2%；P<0.0001）。未发现候选基因的等位基因频率有显著差异。
这些发现支持原发性RP存在遗传易感性的概念。偏头痛的高患病率表明原发性RP是更广泛的血管张力紊乱的一部分。这些发现并不表明这些候选基因的常见分子变异与原发性RP有关。
