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Meta-analysis of exome array data identifies six novel genetic loci for lung function.

Jackson, Victoria E (author)
Latourelle, Jeanne C (author)
Wain, Louise V (author)
show more...
Smith, Albert V (author)
Grove, Megan L (author)
Bartz, Traci M (author)
Obeidat, Ma'en (author)
Province, Michael A (author)
Gao, Wei (author)
Qaiser, Beenish (author)
Porteous, David J (author)
Cassano, Patricia A (author)
Ahluwalia, Tarunveer S (author)
Grarup, Niels (author)
Li, Jin (author)
Altmaier, Elisabeth (author)
Marten, Jonathan (author)
Harris, Sarah E (author)
Manichaikul, Ani (author)
Pottinger, Tess D (author)
Li-Gao, Ruifang (author)
Lind-Thomsen, Allan (author)
Mahajan, Anubha (author)
Lahousse, Lies (author)
Imboden, Medea (author)
Teumer, Alexander (author)
Prins, Bram (author)
Lyytikäinen, Leo-Pekka (author)
Eiriksdottir, Gudny (author)
Franceschini, Nora (author)
Sitlani, Colleen M (author)
Brody, Jennifer A (author)
Bossé, Yohan (author)
Timens, Wim (author)
Kraja, Aldi (author)
Loukola, Anu (author)
Tang, Wenbo (author)
Liu, Yongmei (author)
Bork-Jensen, Jette (author)
Justesen, Johanne M (author)
Linneberg, Allan (author)
Lange, Leslie A (author)
Rawal, Rajesh (author)
Karrasch, Stefan (author)
Huffman, Jennifer E (author)
Smith, Blair H (author)
Davies, Gail (author)
Burkart, Kristin M (author)
Mychaleckyj, Josyf C (author)
Bonten, Tobias N (author)
Enroth, Stefan, 1976- (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
Lind, Lars (author)
Uppsala universitet,Klinisk epidemiologi
Brusselle, Guy G (author)
Kumar, Ashish (author)
Stubbe, Beate (author)
Kähönen, Mika (author)
Wyss, Annah B (author)
Psaty, Bruce M (author)
Heckbert, Susan R (author)
Hao, Ke (author)
Rantanen, Taina (author)
Kritchevsky, Stephen B (author)
Lohman, Kurt (author)
Skaaby, Tea (author)
Pisinger, Charlotta (author)
Hansen, Torben (author)
Schulz, Holger (author)
Polasek, Ozren (author)
Campbell, Archie (author)
Starr, John M (author)
Rich, Stephen S (author)
Mook-Kanamori, Dennis O (author)
Johansson, Åsa (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
Ingelsson, Erik (author)
Uitterlinden, André G (author)
Weiss, Stefan (author)
Raitakari, Olli T (author)
Gudnason, Vilmundur (author)
North, Kari E (author)
Gharib, Sina A (author)
Sin, Don D (author)
Taylor, Kent D (author)
O'Connor, George T (author)
Kaprio, Jaakko (author)
Harris, Tamara B (author)
Pederson, Oluf (author)
Vestergaard, Henrik (author)
Wilson, James G (author)
Strauch, Konstantin (author)
Hayward, Caroline (author)
Kerr, Shona (author)
Deary, Ian J (author)
Barr, R Graham (author)
de Mutsert, Renée (author)
Gyllensten, Ulf (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
Morris, Andrew P (author)
Ikram, M Arfan (author)
Probst-Hensch, Nicole (author)
Gläser, Sven (author)
Zeggini, Eleftheria (author)
Lehtimäki, Terho (author)
Strachan, David P (author)
Dupuis, Josée (author)
Morrison, Alanna C (author)
Hall, Ian P (author)
Tobin, Martin D (author)
London, Stephanie J (author)
show less...
 (creator_code:org_t)
2018-08-07
2018
English.
In: Wellcome open research. - : F1000 Research Ltd. - 2398-502X. ; 3
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. Methods: We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV 1), forced vital capacity (FVC) and the ratio of FEV 1 to FVC (FEV 1/FVC). These analyses by the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals. Results: We identified significant (P<2·8x10 -7) associations with six SNPs: a nonsynonymous variant in RPAP1, which is predicted to be damaging, three intronic SNPs ( SEC24C, CASC17 and UQCC1) and two intergenic SNPs near to LY86 and FGF10. Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including TYRO3 and PLAU. Conclusions: Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Keyword

COPD
GWAS
Lung function
exome array
respiratory

Publication and Content Type

ref (subject category)
art (subject category)

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By the author/editor
Jackson, Victori ...
Latourelle, Jean ...
Wain, Louise V
Smith, Albert V
Grove, Megan L
Bartz, Traci M
show more...
Obeidat, Ma'en
Province, Michae ...
Gao, Wei
Qaiser, Beenish
Porteous, David ...
Cassano, Patrici ...
Ahluwalia, Tarun ...
Grarup, Niels
Li, Jin
Altmaier, Elisab ...
Marten, Jonathan
Harris, Sarah E
Manichaikul, Ani
Pottinger, Tess ...
Li-Gao, Ruifang
Lind-Thomsen, Al ...
Mahajan, Anubha
Lahousse, Lies
Imboden, Medea
Teumer, Alexande ...
Prins, Bram
Lyytikäinen, Leo ...
Eiriksdottir, Gu ...
Franceschini, No ...
Sitlani, Colleen ...
Brody, Jennifer ...
Bossé, Yohan
Timens, Wim
Kraja, Aldi
Loukola, Anu
Tang, Wenbo
Liu, Yongmei
Bork-Jensen, Jet ...
Justesen, Johann ...
Linneberg, Allan
Lange, Leslie A
Rawal, Rajesh
Karrasch, Stefan
Huffman, Jennife ...
Smith, Blair H
Davies, Gail
Burkart, Kristin ...
Mychaleckyj, Jos ...
Bonten, Tobias N
Enroth, Stefan, ...
Lind, Lars
Brusselle, Guy G
Kumar, Ashish
Stubbe, Beate
Kähönen, Mika
Wyss, Annah B
Psaty, Bruce M
Heckbert, Susan ...
Hao, Ke
Rantanen, Taina
Kritchevsky, Ste ...
Lohman, Kurt
Skaaby, Tea
Pisinger, Charlo ...
Hansen, Torben
Schulz, Holger
Polasek, Ozren
Campbell, Archie
Starr, John M
Rich, Stephen S
Mook-Kanamori, D ...
Johansson, Åsa
Ingelsson, Erik
Uitterlinden, An ...
Weiss, Stefan
Raitakari, Olli ...
Gudnason, Vilmun ...
North, Kari E
Gharib, Sina A
Sin, Don D
Taylor, Kent D
O'Connor, George ...
Kaprio, Jaakko
Harris, Tamara B
Pederson, Oluf
Vestergaard, Hen ...
Wilson, James G
Strauch, Konstan ...
Hayward, Carolin ...
Kerr, Shona
Deary, Ian J
Barr, R Graham
de Mutsert, René ...
Gyllensten, Ulf
Morris, Andrew P
Ikram, M Arfan
Probst-Hensch, N ...
Gläser, Sven
Zeggini, Elefthe ...
Lehtimäki, Terho
Strachan, David ...
Dupuis, Josée
Morrison, Alanna ...
Hall, Ian P
Tobin, Martin D
London, Stephani ...
show less...
About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Medical Genetics
Articles in the publication
Wellcome open re ...
By the university
Uppsala University

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