Meta-analysis of exome array data identifies six novel genetic loci for lung function
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Meta-analysis of exome array data identifies six novel genetic loci for lung function. / Jackson, Victoria E; Latourelle, Jeanne C; Wain, Louise V; Smith, Albert V; Grove, Megan L; Bartz, Traci M; Obeidat, Ma'en; Province, Michael A; Gao, Wei; Qaiser, Beenish; Porteous, David J; Cassano, Patricia A; Ahluwalia, Tarunveer S; Grarup, Niels; Li, Jin; Altmaier, Elisabeth; Marten, Jonathan; Harris, Sarah E; Manichaikul, Ani; Pottinger, Tess D; Li-Gao, Ruifang; Lind-Thomsen, Allan; Mahajan, Anubha; Lahousse, Lies; Imboden, Medea; Teumer, Alexander; Prins, Bram; Lyytikäinen, Leo-Pekka; Eiriksdottir, Gudny; Franceschini, Nora; Sitlani, Colleen M; Brody, Jennifer A; Bossé, Yohan; Timens, Wim; Kraja, Aldi; Loukola, Anu; Tang, Wenbo; Liu, Yongmei; Bork-Jensen, Jette; Justesen, Johanne M; Linneberg, Allan; Lange, Leslie A; Rawal, Rajesh; Karrasch, Stefan; Huffman, Jennifer E; Smith, Blair H; Lind, Lars; Pisinger, Charlotta; Hansen, Torben; Vestergaard, Henrik; Understanding Society Scientific Group.
In: Wellcome Open Research, Vol. 3, 2018, p. 1-28.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Meta-analysis of exome array data identifies six novel genetic loci for lung function
AU - Jackson, Victoria E
AU - Latourelle, Jeanne C
AU - Wain, Louise V
AU - Smith, Albert V
AU - Grove, Megan L
AU - Bartz, Traci M
AU - Obeidat, Ma'en
AU - Province, Michael A
AU - Gao, Wei
AU - Qaiser, Beenish
AU - Porteous, David J
AU - Cassano, Patricia A
AU - Ahluwalia, Tarunveer S
AU - Grarup, Niels
AU - Li, Jin
AU - Altmaier, Elisabeth
AU - Marten, Jonathan
AU - Harris, Sarah E
AU - Manichaikul, Ani
AU - Pottinger, Tess D
AU - Li-Gao, Ruifang
AU - Lind-Thomsen, Allan
AU - Mahajan, Anubha
AU - Lahousse, Lies
AU - Imboden, Medea
AU - Teumer, Alexander
AU - Prins, Bram
AU - Lyytikäinen, Leo-Pekka
AU - Eiriksdottir, Gudny
AU - Franceschini, Nora
AU - Sitlani, Colleen M
AU - Brody, Jennifer A
AU - Bossé, Yohan
AU - Timens, Wim
AU - Kraja, Aldi
AU - Loukola, Anu
AU - Tang, Wenbo
AU - Liu, Yongmei
AU - Bork-Jensen, Jette
AU - Justesen, Johanne M
AU - Linneberg, Allan
AU - Lange, Leslie A
AU - Rawal, Rajesh
AU - Karrasch, Stefan
AU - Huffman, Jennifer E
AU - Smith, Blair H
AU - Lind, Lars
AU - Pisinger, Charlotta
AU - Hansen, Torben
AU - Vestergaard, Henrik
AU - Understanding Society Scientific Group
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
U2 - 10.12688/wellcomeopenres.12583.3
DO - 10.12688/wellcomeopenres.12583.3
M3 - Journal article
C2 - 30175238
VL - 3
SP - 1
EP - 28
JO - Wellcome Open Research
JF - Wellcome Open Research
SN - 2398-502X
ER -
ID: 204438247