The 3p21.1-p21.3 hereditary vascular retinopathy locus increases the risk for Raynaud's phenomenon and migraine.
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.
Hottenga
J J
JJ
Department of Human Genetics, Leiden University Medical Centre, Leiden, and Department of Neurology, Rijnland Hospital, Leiderdorp, The Netherlands.
Vanmolkot
K R J
KR
Kors
E E
EE
Kheradmand Kia
S
S
de Jong
P T V M
PT
Haan
J
J
Terwindt
G M
GM
Frants
R R
RR
Ferrari
M D
MD
van den Maagdenberg
A M J M
AM
D000293:Adolescent; D000328:Adult; D002648:Child; D015897:Comorbidity; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D008881:Migraine Disorders / Q000453:epidemiology* / Q000235:genetics*; D009426:Netherlands / Q000453:epidemiology; D010641:Phenotype; D015995:Prevalence; D040641:Quantitative Trait Loci / Q000235:genetics; D019655:Quantitative Trait, Heritable; D011928:Raynaud Disease / Q000453:epidemiology* / Q000235:genetics*; D012164:Retinal Diseases / Q000453:epidemiology* / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D017422:Sequence Analysis, DNA