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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doi.org/10.1111/j.1468-2982.2005.00994.x, hdl.handle.net/1765/67210
Cephalalgia: an international journal of headache
Erasmus MC: University Medical Center Rotterdam

Hottenga, J. J., Vanmolkot, K., Kors, E., Kia, S. K., de Jong, P., Haan, J., … Dichgans, M. (2005). The 3p21.1-p21.3 hereditary vascular retinopathy locus increases the risk for Raynaud's phenomenon and migraine. Cephalalgia: an international journal of headache, 25(12), 1168–1172. doi:10.1111/j.1468-2982.2005.00994.x