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Exome sequencing re...
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Maroteau, CyrielleUniv Dundee, Ninewells Hosp & Med Sch, Div Populat Hlth & Genom, Dundee, Scotland
(author)
Exome sequencing reveals common and rare variants in F5 associated with ACE inhibitor and angiotensin receptor blocker-induced angioedema
- Article/chapterEnglish2020
Publisher, publication year, extent ...
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2020-07-18
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John Wiley & Sons,2020
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-427119
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427119URI
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https://doi.org/10.1002/cpt.1927DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:144195303URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:232496628URI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Angioedema occurring in the head and neck region is a rare and sometimes life-threatening adverse reactionto angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs). Few studies have investigated the association of common variants with this extreme reaction, but none have explored the combined influence of rare variants yet. Adjudicated cases of ACEI-induced angioedema (ACEI-AE) or ARB-induced angioedema (ARB-AE) and controls were recruited at five different centers. Sequencing of 1,066 samples (408 ACEI-AE, ARB-AE, and 658 controls) was performed using exome-enriched sequence data. A common variant of the F5 gene that causes an increase in blood clotting (rs6025, p.Arg506Gln, also called factor V Leiden), was significantly associated with both ACEI-AE and ARB-AE (odds ratio: 2.85, 95% confidence interval (CI), 1.89–4.25). A burden test analysisof five rare missense variants in F5 was also found to be associated with ACEI-AE or ARB-AE, P = 2.09 × 10−3. A combined gene risk score of these variants, and the common variants rs6025 and rs6020, showed that individuals carrying at least one variant had 2.21 (95% CI, 1.49–3.27, P = 6.30 × 10−9) times the odds of having ACEI-AE or ARB-AE. The increased risk due to the common Leiden allele was confirmed in a genome-wide association study from the United States. A high risk of angioedema was also observed for the rs6020 variant that is the main coagulation defect-causing variant in black African and Asian populations. We found that deleterious missense variants in F5 are associated with an increased risk of ACEI-AE or ARB-AE.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Siddiqui, Moneeza KalhanUniv Dundee, Ninewells Hosp & Med Sch, Div Populat Hlth & Genom, Dundee, Scotland
(author)
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Veluchamy, AbiramiUniv Dundee, Ninewells Hosp & Med Sch, Div Populat Hlth & Genom, Dundee, Scotland
(author)
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Carr, FionaUniv Dundee, Ninewells Hosp & Med Sch, Div Populat Hlth & Genom, Dundee, Scotland
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White, MyraUniv Dundee, Ninewells Hosp & Med Sch, Div Populat Hlth & Genom, Dundee, Scotland
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Cassidy, Andrew J.Univ Dundee, Tayside Ctr Genom Anal, Sch Med, Dundee, Scotland
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Baranova, Ekaterina, VUniv Utrecht, Div Pharmacoepidemiol & Clin Pharmacol, Utrecht, Netherlands
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Rasmussen, Eva R.Univ Copenhagen, Rigshosp, Dept Otorhinolaryngol Head & Neck Surg & Audiol, Copenhagen, Denmark.; Odense Univ Hosp, OPEN Patient Data Explorat Network, Odense, Denmark
(author)
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Eriksson, Niclas,1978-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper,Uppsala kliniska forskningscentrum (UCR)(Swepub:uu)nieri103
(author)
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Bloch, Katarzyna M.Univ Liverpool, Dept Mol & Clin Pharmacol, Liverpool, Merseyside, England
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Brown, Nancy J.Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN USA
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Bygum, AnetteOdense Univ Hosp, OPEN Patient Data Explorat Network, Odense, Denmark
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Hallberg, Pär,1974-Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab(Swepub:uu)pahal677
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Karawajczyk, MalgorzataUppsala universitet,Klinisk kemi(Swepub:uu)malgkara
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Magnusson, Patrik K. E.Karolinska Institutet
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Yue, Qun-YingWHO Collaborating Ctr, Uppsala Monitoring Ctr, Uppsala, Sweden
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Syvänen, Ann-Christine,1950-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper(Swepub:uu)anncsyva
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von Buchwald, ChristianUniv Copenhagen, Rigshosp, Dept Otorhinolaryngol Head & Neck Surg & Audiol, Copenhagen, Denmark
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Alfirevic, AnaUniv Liverpool, Dept Mol & Clin Pharmacol, Liverpool, Merseyside, England
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Maitland-van der Zee, Anke H.Univ Utrecht, Div Pharmacoepidemiol & Clin Pharmacol, Utrecht, Netherlands.; Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Resp Med, Locat AMC, Amsterdam, Netherlands
(author)
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Wadelius, MiaUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper(Swepub:uu)miawadel
(author)
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Palmer, Colin N. A.Univ Dundee, Ninewells Hosp & Med Sch, Div Populat Hlth & Genom, Dundee, Scotland
(author)
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Univ Dundee, Ninewells Hosp & Med Sch, Div Populat Hlth & Genom, Dundee, ScotlandUniv Dundee, Tayside Ctr Genom Anal, Sch Med, Dundee, Scotland
(creator_code:org_t)
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In:Clinical Pharmacology and Therapeutics: John Wiley & Sons108:6, s. 1195-12020009-92361532-6535
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