Genome-Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis.
Gie Ken-DrorIoana CotlarciucIda MartinelliElvira GrandoneSini HiltunenErik LindgrenMaurizio MargaglioneVeronique Le Cam DuchezAude Bagan TriquenotMarialuisa ZeddeMichelangelo MancusoYnte M RuigrokThomas MarjotBrad WorrallJennifer J MajersikTiina M MetsoJukka PutaalaElena HaapaniemiSusanna M ZuurbierMatthijs C BrouwerSerena M PassamontiMaria AbbattistaPaolo BucciarelliBraxton D MitchellSteven J KittnerRobin LemmensChristina JernEmanuela PappalardoPaolo CostaMarina ColombiDiana Aguiar de SousaSofia RodriguesPatrícia CanhãoAleksander TkachRosa SantacroceGiovanni FavuzziAntonio ArauzDonatella ColaizzoKostas SpengosAmanda HodgeReina DittaAlessandro PezziniStephanie DebetteJonathan M CoutinhoVincent ThijsKatarina JoodGuillaume PareTurgut TatlisumakJosé M FerroPankaj SharmaPublished in: Annals of neurology (2021)
We present the first chromosomal region to robustly associate with a genetic susceptibility to CVT. This region more than doubles the likelihood of CVT, a risk greater than any previously identified thrombophilia genetic risk marker. That the identified variant is in strong LD with the coding region of the ABO gene with differences in blood group prevalence provides important new insights into the pathophysiology of CVT. ANN NEUROL 2021;90:777-788.