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The 3p21.1-p21.3 hereditary vascular retinopathy locus increases the risk for Raynaud's phenomenon and migraine
J J Hottenga1, K R J Vanmolkot, E E Kors
1Department of Human Genetics, Leiden University Medical Centre, Leiden, and Department of Neurology, Rijnland Hospital, Leiderdorp, The Netherlands.
Abstract:
Previously, we described a large Dutch family with hereditary vascular retinopathy (HVR), Raynaud's phenomenon and migraine. A locus for HVR was mapped on chromosome 3p21.1-p21.3, but the gene has not yet been identified. The fact that all three disorders share a vascular aetiology prompted us to study whether the HVR haplotype also contributed to Raynaud's phenomenon and migraine in this family. Whereas the parent-child transmission disequilibrium test (TDT) did not reach significance, the sibling TDT revealed that the HVR haplotype harbours a susceptibility factor for Raynaud's phenomenon and migraine. Identification of the HVR gene will improve the understanding of the pathophysiology of HVR, Raynaud's phenomenon and migraine.
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