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

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Jackson, Victoria E (author)

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

Article/chapterEnglish2018

Publisher, publication year, extent ...

2018-08-07
F1000 Research Ltd,2018
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LIBRIS-ID:oai:DiVA.org:uu-367089
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-367089URI
https://doi.org/10.12688/wellcomeopenres.12583.3DOI

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Language:English
Summary in:English

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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 and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
COPD
GWAS
Lung function
exome array
respiratory

Added entries (persons, corporate bodies, meetings, titles ...)

Latourelle, Jeanne C (author)
Wain, Louise V (author)
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-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)stenr451 (author)
Lind, LarsUppsala universitet,Klinisk epidemiologi(Swepub:uu)larslind (author)
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, ÅsaUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)asjoh108 (author)
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, UlfUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)ulfgyll (author)
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)
Uppsala universitetScience for Life Laboratory, SciLifeLab (creator_code:org_t)

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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...

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