A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height

North, T; Ben-Shlomo, Y; Cooper, C; Deary, I; Gallacher, J; Kivimaki, M; Kumari, M; Martin, R; Pattie, A; Sayer, A; Starr, J; Wong, A; Kuh, D; Rodriguez, S; Day, I

Journal article

A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height

Abstract:: Background Several recessive Mendelian disorders are common in Europeans, including cystic fibrosis (CFTR), medium-chain-acyl-Co-A-dehydrogenase deficiency (ACADM), phenylketonuria (PAH) and alpha 1-antitrypsin deficiency (SERPINA1). Methods In a multicohort study of >19 000 older individuals, we investigated the relevant phenotypes in heterozygotes for these genes: lung function (forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC)) for CFTR and SERPINA1; cognitive mea...
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Publication status:: Published

Peer review status:: Peer reviewed

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APA Style

North, T., Ben-Shlomo, Y., Cooper, C., Deary, I., Gallacher, J., Kivimaki, M., Kumari, M., Martin, R., Pattie, A., Sayer, A., Starr, J., Wong, A., Kuh, D., Rodriguez, S., & Day, I. (2016). A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height. Journal of Medical Genetics, 53(4), 280–288.

MLA Style

North, T., et al. “A Study of Common Mendelian Disease Carriers across Ageing British Cohorts: Meta-Analyses Reveal Heterozygosity for Alpha 1-Antitrypsin Deficiency Increases Respiratory Capacity and Height.” Journal of Medical Genetics, vol. 53, no. 4, BMJ Publishing Group, 2016, pp. 280–88.

Chicago Style

North, T, Y Ben-Shlomo, C Cooper, I Deary, J Gallacher, M Kivimaki, M Kumari, et al. 2016. “A Study of Common Mendelian Disease Carriers across Ageing British Cohorts: Meta-Analyses Reveal Heterozygosity for Alpha 1-Antitrypsin Deficiency Increases Respiratory Capacity and Height.” Journal of Medical Genetics 53 (4): 280–88.
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Publisher copy:: 10.1136/jmedgenet-2015-103342

Authors

+ North, T More by this author

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Author

+ Ben-Shlomo, Y More by this author

Role:

Author

+ Cooper, C More by this author

Institution:

University of Oxford

Division:

Medical Sciences Division

Department:

NDORMS

Oxford college:

St Peter's College

Role:

Author

+ Deary, I More by this author

Role:

Author

+ Gallacher, J More by this author

Institution:

University of Oxford

Division:

MSD

Department:

Psychiatry

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Author

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Funding

+ British Heart Foundation More from this funder

+ Medical Research Council More from this funder

+ Wellcome Trust More from this funder

+ Economic and Social Research Council More from this funder

+ NHLBI NIH HHS More from this funder

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Bibliographic Details

Publisher:: BMJ Publishing Group
Journal:: Journal of Medical Genetics More from this journal
Volume:: 53
Issue:: 4
Pages:: 280-288
Publication date:: 2016-02-01
Acceptance date:: 2015-12-06
DOI:: 10.1136/jmedgenet-2015-103342
EISSN:: 1468-6244
ISSN:: 0022-2593
Pmid:: 26831755

Item Description

Language:: English
Keywords:: SBTMR
Pubs id:: pubs:600466
UUID:: uuid:55bb527d-32f0-4581-b742-d30b4a26c5cb
Local pid:: pubs:600466
Source identifiers:: 600466
Deposit date:: 2017-10-18

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Copyright holder:: North et al
Notes:: Copyright © 2015 The Authors. This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

Licence:: CC Attribution (CC BY)

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Journal article

A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height

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