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Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema

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Harvard

Maroteau, C, Kalhan Siddiqui, M, Veluchamy, A, Carr, F, White, M, Cassidy, AJ, Baranova, EV, Rasmussen, ER, Eriksson, N, Bloch, KM, Brown, NJ, Bygum, A, Hallberg, P, Karawajczyk, M, Magnusson, PKE, Yue, Q-Y, Syvänen, A-C, von Buchwald, C, Alfirevic, A, Maitland-van der Zee, AH, Wadelius, M, Palmer, CNA & PREDICTION-ADR 2020, 'Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema', Clinical Pharmacology and Therapeutics, bind 108, nr. 6, s. 1195-1202. https://doi.org/10.1002/cpt.1927

APA

Maroteau, C., Kalhan Siddiqui, M., Veluchamy, A., Carr, F., White, M., Cassidy, A. J., Baranova, E. V., Rasmussen, E. R., Eriksson, N., Bloch, K. M., Brown, N. J., Bygum, A., Hallberg, P., Karawajczyk, M., Magnusson, P. K. E., Yue, Q-Y., Syvänen, A-C., von Buchwald, C., Alfirevic, A., ... PREDICTION-ADR (2020). Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema. Clinical Pharmacology and Therapeutics, 108(6), 1195-1202. https://doi.org/10.1002/cpt.1927

CBE

Maroteau C, Kalhan Siddiqui M, Veluchamy A, Carr F, White M, Cassidy AJ, Baranova EV, Rasmussen ER, Eriksson N, Bloch KM, Brown NJ, Bygum A, Hallberg P, Karawajczyk M, Magnusson PKE, Yue Q-Y, Syvänen A-C, von Buchwald C, Alfirevic A, Maitland-van der Zee AH, Wadelius M, Palmer CNA, PREDICTION-ADR. 2020. Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema. Clinical Pharmacology and Therapeutics. 108(6):1195-1202. https://doi.org/10.1002/cpt.1927

MLA

Vancouver

Author

Maroteau, Cyrielle ; Kalhan Siddiqui, Moneeza ; Veluchamy, Abirami ; Carr, Fiona ; White, Myra ; Cassidy, Andrew J ; Baranova, Ekaterina V ; Rasmussen, Eva R ; Eriksson, Niclas ; Bloch, Katarzyna M ; Brown, Nancy J ; Bygum, Anette ; Hallberg, Par ; Karawajczyk, Malgorzata ; Magnusson, Patrik K E ; Yue, Qun-Ying ; Syvänen, Ann-Christine ; von Buchwald, Christian ; Alfirevic, Ana ; Maitland-van der Zee, Anke H ; Wadelius, Mia ; Palmer, Colin N A ; PREDICTION-ADR. / Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema. I: Clinical Pharmacology and Therapeutics. 2020 ; Bind 108, Nr. 6. s. 1195-1202.

Bibtex

@article{43fab764c5224451989f4bebe75f5375,
title = "Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema",
abstract = "Angioedema occurring in the head and neck region is a rare and sometimes life-threatening adverse reaction to 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 analysis of 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. ",
author = "Cyrielle Maroteau and {Kalhan Siddiqui}, Moneeza and Abirami Veluchamy and Fiona Carr and Myra White and Cassidy, {Andrew J} and Baranova, {Ekaterina V} and Rasmussen, {Eva R} and Niclas Eriksson and Bloch, {Katarzyna M} and Brown, {Nancy J} and Anette Bygum and Par Hallberg and Malgorzata Karawajczyk and Magnusson, {Patrik K E} and Qun-Ying Yue and Ann-Christine Syv{\"a}nen and {von Buchwald}, Christian and Ana Alfirevic and {Maitland-van der Zee}, {Anke H} and Mia Wadelius and Palmer, {Colin N A} and PREDICTION-ADR",
note = "{\textcopyright} 2020 The Authors. Clinical Pharmacology & Therapeutics published by Wiley Periodicals LLC on behalf of American Society for Clinical Pharmacology and Therapeutics.",
year = "2020",
month = dec,
doi = "10.1002/cpt.1927",
language = "English",
volume = "108",
pages = "1195--1202",
journal = "Clinical Pharmacology and Therapeutics",
issn = "0009-9236",
publisher = "Nature Publishing Group",
number = "6",

}

RIS

TY - JOUR

T1 - Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema

AU - Maroteau, Cyrielle

AU - Kalhan Siddiqui, Moneeza

AU - Veluchamy, Abirami

AU - Carr, Fiona

AU - White, Myra

AU - Cassidy, Andrew J

AU - Baranova, Ekaterina V

AU - Rasmussen, Eva R

AU - Eriksson, Niclas

AU - Bloch, Katarzyna M

AU - Brown, Nancy J

AU - Bygum, Anette

AU - Hallberg, Par

AU - Karawajczyk, Malgorzata

AU - Magnusson, Patrik K E

AU - Yue, Qun-Ying

AU - Syvänen, Ann-Christine

AU - von Buchwald, Christian

AU - Alfirevic, Ana

AU - Maitland-van der Zee, Anke H

AU - Wadelius, Mia

AU - Palmer, Colin N A

AU - PREDICTION-ADR

N1 - © 2020 The Authors. Clinical Pharmacology & Therapeutics published by Wiley Periodicals LLC on behalf of American Society for Clinical Pharmacology and Therapeutics.

PY - 2020/12

Y1 - 2020/12

N2 - Angioedema occurring in the head and neck region is a rare and sometimes life-threatening adverse reaction to 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 analysis of 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.

AB - Angioedema occurring in the head and neck region is a rare and sometimes life-threatening adverse reaction to 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 analysis of 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.

UR - http://www.scopus.com/inward/record.url?scp=85088125092&partnerID=8YFLogxK

U2 - 10.1002/cpt.1927

DO - 10.1002/cpt.1927

M3 - Journal article

C2 - 32496628

VL - 108

SP - 1195

EP - 1202

JO - Clinical Pharmacology and Therapeutics

JF - Clinical Pharmacology and Therapeutics

SN - 0009-9236

IS - 6

ER -

ID: 60285532