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DOI 10.1038/ng.3154

Медицинская библиотека · Nature genetics · 2014

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

Debette Stéphanie, Kamatani Yoichiro, Metso Tiina M, Kloss Manja, Chauhan Ganesh, Engelter Stefan T, Pezzini Alessandro, Thijs Vincent, Markus Hugh S, Dichgans Martin, Wolf Christiane, Dittrich Ralf, Touzé Emmanuel, Southerland Andrew M, Samson Yves, Abboud Shérine, Béjot Yannick, Caso Valeria, Bersano Anna, Gschwendtner Andreas, Sessa Maria, Cole John, Lamy Chantal, Medeiros Elisabeth, Beretta Simone, Bonati Leo H, Grau Armin J, Michel Patrik, Majersik Jennifer J, Sharma Pankaj, Kalashnikova Ludmila, Nazarova Maria, Dobrynina Larisa, Bartels Eva, Guillon Benoit, van den Herik Evita G, Fernandez-Cadenas Israel, Jood Katarina, Nalls Michael A, De Leeuw Frank-Erik, Jern Christina, Cheng Yu-Ching, Werner Inge, Metso Antti J, Lichy Christoph, Lyrer Philippe A, Brandt Tobias, Boncoraglio Giorgio B, Wichmann Heinz-Erich, Gieger Christian, Johnson Andrew D, Böttcher Thomas, Castellano Maurizio, Arveiler Dominique, Ikram M Arfan, Breteler Monique M B, Padovani Alessandro, Meschia James F, Kuhlenbäumer Gregor, Rolfs Arndt, Worrall Bradford B, International Stroke Genetics Consortium, Ringelstein Erich-Bernd, Zelenika Diana, Tatlisumak Turgut, Lathrop Mark, Leys Didier, Amouyel Philippe, Dallongeville Jean, CADISP Group

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Аннотация

Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year). Minor cervical traumas, infection, migraine and hypertension are putative risk factors, and inverse associations with obesity and hypercholesterolemia are described. No confirmed genetic susceptibility factors have been identified using candidate gene approaches. We performed genome-wide association studies (GWAS) in 1,393 CeAD cases and 14,416 controls. The rs9349379[G] allele (PHACTR1) was associated with lower CeAD risk (odds ratio (OR) = 0.75, 95% confidence interval (CI) = 0.69-0.82; P = 4.46 × 10(-10)), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 × 10(-3); combined P = 1.00 × 10(-11)). The rs9349379[G] allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.

Для цитирования: Debette Stéphanie, Kamatani Yoichiro, Metso Tiina M, Kloss Manja, Chauhan Ganesh, Engelter Stefan T, Pezzini Alessandro, Thijs Vincent, Markus Hugh S, Dichgans Martin, Wolf Christiane, Dittrich Ralf, Touzé Emmanuel, Southerland Andrew M, Samson Yves, Abboud Shérine, Béjot Yannick, Caso Valeria, Bersano Anna, Gschwendtner Andreas, Sessa Maria, Cole John, Lamy Chantal, Medeiros Elisabeth, Beretta Simone, Bonati Leo H, Grau Armin J, Michel Patrik, Majersik Jennifer J, Sharma Pankaj, Kalashnikova Ludmila, Nazarova Maria, Dobrynina Larisa, Bartels Eva, Guillon Benoit, van den Herik Evita G, Fernandez-Cadenas Israel, Jood Katarina, Nalls Michael A, De Leeuw Frank-Erik, Jern Christina, Cheng Yu-Ching, Werner Inge, Metso Antti J, Lichy Christoph, Lyrer Philippe A, Brandt Tobias, Boncoraglio Giorgio B, Wichmann Heinz-Erich, Gieger Christian, Johnson Andrew D, Böttcher Thomas, Castellano Maurizio, Arveiler Dominique, Ikram M Arfan, Breteler Monique M B, Padovani Alessandro, Meschia James F, Kuhlenbäumer Gregor, Rolfs Arndt, Worrall Bradford B, International Stroke Genetics Consortium, Ringelstein Erich-Bernd, Zelenika Diana, Tatlisumak Turgut, Lathrop Mark, Leys Didier, Amouyel Philippe, Dallongeville Jean, CADISP Group. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.. Nature genetics. 2014. DOI: 10.1038/ng.3154.

Предметные рубрики MeSH

AdultAllelesBrain IschemiaCarotid Artery, Internal, DissectionFemaleFinlandFollow-Up StudiesGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHypercholesterolemiaHypertensionMaleMicrofilament ProteinsMiddle AgedMigraine DisordersMyocardial InfarctionObesityOdds RatioPolymorphism, Single NucleotideRisk FactorsVertebral Artery Dissection
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