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

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Debette, Stéphanie (author)

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

Article/chapterEnglish2015

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2014-11-24
Springer Science and Business Media LLC,2015

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LIBRIS-ID:oai:gup.ub.gu.se/206613
https://gup.ub.gu.se/publication/206613URI
https://doi.org/10.1038/ng.3154DOI

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Language:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

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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)1. Minor cervical traumas, infection, migraine and hypertension are putative risk factors1–3, and inverse associations with obesity and hypercholesterolemia are described3,4. No confirmed genetic susceptibility factors have been identified using candidate gene approaches5. We performed genome-wide association studies (GWAS) in 1 1,393 CeAD cases and 1 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 × 1 10−10), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 1 × 1 10−3; combined P = 1 1.00 × 1 10−1111). The rs9349379[G] allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction6–9. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.

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Kamatani, Yoichiro (author)
Metso, Tiina M (author)
Kloss, Manja (author)
Chauhan, Ganesh (author)
Engelter, Stefan T (author)
Pezzini, Alessandro (author)
Thijs, Vincent (author)
Markus, Hugh S (author)
Dichgans, Martin (author)
Wolf, Christiane (author)
Dittrich, Ralf (author)
Touzé, Emmanuel (author)
Southerland, Andrew M (author)
Samson, Yves (author)
Abboud, Shérine (author)
Béjot, Yannick (author)
Caso, Valeria (author)
Bersano, Anna (author)
Gschwendtner, Andreas (author)
Sessa, Maria (author)
Cole, John (author)
Lamy, Chantal (author)
Medeiros, Elisabeth (author)
Beretta, Simone (author)
Bonati, Leo H (author)
Grau, Armin J (author)
Michel, Patrik (author)
Majersik, Jennifer J (author)
Sharma, Pankaj (author)
Kalashnikova, Ludmila (author)
Nazarova, Maria (author)
Dobrynina, Larisa (author)
Bartels, Eva (author)
Guillon, Benoit (author)
van den Herik, Evita G (author)
Fernandez-Cadenas, Israel (author)
Jood, Katarina,1966Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation(Swepub:gu)xjooka (author)
Nalls, Michael A (author)
De Leeuw, Frank-Erik (author)
Jern, Christina,1962 (author)
Cheng, Yu-Ching (author)
Werner, Inge (author)
Metso, Antti J (author)
Lichy, Christoph (author)
Lyrer, Philippe A (author)
Brandt, Tobias (author)
Boncoraglio, Giorgio B (author)
Wichmann, Heinz-Erich (author)
Gieger, Christian (author)
Johnson, Andrew D (author)
Böttcher, Thomas (author)
Castellano, Maurizio (author)
Arveiler, Dominique (author)
Ikram, M Arfan (author)
Breteler, Monique M B (author)
Padovani, Alessandro (author)
Meschia, James F (author)
Kuhlenbäumer, Gregor (author)
Rolfs, Arndt (author)
Worrall, Bradford B (author)
Ringelstein, Erich-Bernd (author)
Zelenika, Diana (author)
Tatlisumak, Turgut (author)
Lathrop, Mark (author)
Leys, Didier (author)
Amouyel, Philippe (author)
Dallongeville, Jean (author)
Göteborgs universitetInstitutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC47, s. 78-831061-40361546-1718

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By the author/editor: Debette, Stéphan ...; Kamatani, Yoichi ...; Metso, Tiina M; Kloss, Manja; Chauhan, Ganesh; Engelter, Stefan ...; show more...; Pezzini, Alessan ...; Thijs, Vincent; Markus, Hugh S; Dichgans, Martin; Wolf, Christiane; Dittrich, Ralf; Touzé, Emmanuel; Southerland, And ...; Samson, Yves; Abboud, Shérine; Béjot, Yannick; Caso, Valeria; Bersano, Anna; Gschwendtner, An ...; Sessa, Maria; Cole, John; Lamy, Chantal; Medeiros, Elisab ...; Beretta, Simone; Bonati, Leo H; Grau, Armin J; Michel, Patrik; Majersik, Jennif ...; Sharma, Pankaj; Kalashnikova, Lu ...; Nazarova, Maria; Dobrynina, Laris ...; Bartels, Eva; Guillon, Benoit; van den Herik, E ...; Fernandez-Cadena ...; Jood, Katarina, ...; Nalls, Michael A; De Leeuw, Frank- ...; Jern, Christina, ...; Cheng, Yu-Ching; Werner, Inge; Metso, Antti J; Lichy, Christoph; Lyrer, Philippe ...; Brandt, Tobias; Boncoraglio, Gio ...; Wichmann, Heinz- ...; Gieger, Christia ...; Johnson, Andrew ...; Böttcher, Thomas; Castellano, Maur ...; Arveiler, Domini ...; Ikram, M Arfan; Breteler, Moniqu ...; Padovani, Alessa ...; Meschia, James F; Kuhlenbäumer, Gr ...; Rolfs, Arndt; Worrall, Bradfor ...; Ringelstein, Eri ...; Zelenika, Diana; Tatlisumak, Turg ...; Lathrop, Mark; Leys, Didier; Amouyel, Philipp ...; Dallongeville, J ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine

Articles in the publication: Nature Genetics

By the university: University of Gothenburg

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