ORCID: https://orcid.org/0000-0002-9758-9784; Latourelle, Jeanne C.; Wain, Louise V. ORCID: https://orcid.org/0000-0003-4951-1867; Smith, Albert V.; Grove, Megan L.; Bartz, Traci M.; Obeidat, Ma'en ORCID: https://orcid.org/0000-0002-5443-2752; Province, Michael A.; Gao, Wei; Qaiser, Beenish; Porteous, David J. ORCID: https://orcid.org/0000-0003-1249-6106; Cassano, Patricia A. ORCID: https://orcid.org/0000-0003-4827-5073; Ahluwalia, Tarunveer S. ORCID: https://orcid.org/0000-0002-7464-3354; Grarup, Niels ORCID: https://orcid.org/0000-0001-5526-1070; Li, Jin; Altmaier, Elisabeth; Marten, Jonathan ORCID: https://orcid.org/0000-0001-6916-2014; Harris, Sarah E. ORCID: https://orcid.org/0000-0002-4941-5106; Manichaikul, Ani; Pottinger, Tess D. ORCID: https://orcid.org/0000-0003-0647-5712; Li-Gao, Ruifang ORCID: https://orcid.org/0000-0003-0650-1351; Lind-Thomsen, Allan; Mahajan, Anubha ORCID: https://orcid.org/0000-0001-5585-3420; Lahousse, Lies ORCID: https://orcid.org/0000-0002-3494-4363; Imboden, Medea; Teumer, Alexander ORCID: https://orcid.org/0000-0002-8309-094X; Prins, Bram P.; Lyytikäinen, Leo-Pekka ORCID: https://orcid.org/0000-0002-7200-5455; Eiriksdottir, Gudny; Franceschini, Nora; Sitlani, Colleen M. ORCID: https://orcid.org/0000-0001-7656-7482; Brody, Jennifer A. ORCID: https://orcid.org/0000-0001-8509-148X; Bossé, Yohan ORCID: https://orcid.org/0000-0002-3067-3711; Timens, Wim ORCID: https://orcid.org/0000-0002-4146-6363; Kraja, Aldi; Loukola, Anu; Tang, Wenbo; Liu, Yongmei; Bork-Jensen, Jette; Justesen, Johanne M. ORCID: https://orcid.org/0000-0002-0484-8522; Linneberg, Allan ORCID: https://orcid.org/0000-0002-0994-0184; Lange, Leslie A.; Rawal, Rajesh; Karrasch, Stefan ORCID: https://orcid.org/0000-0001-9807-2915; Huffman, Jennifer E.; Smith, Blair H. ORCID: https://orcid.org/0000-0002-5362-9430; Davies, Gail; Burkart, Kristin M.; Mychaleckyi, Josyf C. ORCID: https://orcid.org/0000-0003-2595-0005; Bonten, Tobias N.; Enroth, Stefan ORCID: https://orcid.org/0000-0002-5056-9137; Lind, Lars; Brusselle, Guy G.; Kumar, Ashish; Stubbe, Beate; Kähönen, Mika ORCID: https://orcid.org/0000-0002-4510-7341; Wyss, Annah B.; Psaty, Bruce M. ORCID: https://orcid.org/0000-0002-7278-2190; Heckber, Susan R.; Hao, Ke; Rantanen, Taina ORCID: https://orcid.org/0000-0002-1604-1945; Kritchevsky, Stephen B. ORCID: https://orcid.org/0000-0003-3336-6781; Lohman, Kurt; Skaaby, Tea; Pisinger, Charlotta; Hansen, Torben ORCID: https://orcid.org/0000-0001-8748-3831; Schulz, Holger; Polasek, Ozren; Campbell, Archie I. ORCID: https://orcid.org/0000-0003-0198-5078; Starr, John M.; Rich, Stephen S. ORCID: https://orcid.org/0000-0003-3872-7793; Mook-Kanamori, Dennis O.; Johansson, Åsa ORCID: https://orcid.org/0000-0002-2915-4498; Ingelsson, Erik; Uitterlinden, André G.; Weiss, Stefan ORCID: https://orcid.org/0000-0002-3553-4315; Raitakari, Olli T.; Gudnason, Vilmundur ORCID: https://orcid.org/0000-0001-5696-0084; North, Kari E.; Gharib, Sina A. ORCID: https://orcid.org/0000-0002-2480-4367; Sin, Don D. ORCID: https://orcid.org/0000-0002-0756-6643; Taylor, Kent D. ORCID: https://orcid.org/0000-0002-2756-4370; O'Connor, George T.; Kaprio, Jaakko ORCID: https://orcid.org/0000-0002-3716-2455; Harris, Tamara B.; Pederson, Oluf; Vestergaard, Henrik ORCID: https://orcid.org/0000-0003-3090-269X; Wilson, James G.; Strauch, Konstantin; Hayward, Caroline ORCID: https://orcid.org/0000-0002-9405-9550; Kerr, Shona M. ORCID: https://orcid.org/0000-0002-4137-1495; Deary, Ian J. ORCID: https://orcid.org/0000-0002-1733-263X; Barr, R. Graham; de Mutsert, Renée; Gyllensten, Ulf ORCID: https://orcid.org/0000-0002-6316-3355; Morris, Andrew P. ORCID: https://orcid.org/0000-0002-6805-6014; Ikram, M. Arfan ORCID: https://orcid.org/0000-0003-0372-8585; Probst-Hensch, Nicole; Gläser, Sven; Zeggini, Eleftheria; Lehtimäki, Terho; Strachan, David P.; Dupuis, Josée ORCID: https://orcid.org/0000-0003-2871-3603; Morrison, Alanna C.; Hall, Ian P. ORCID: https://orcid.org/0000-0001-9933-3216; Tobin, Martin D. ORCID: https://orcid.org/0000-0002-3596-7874 und London, Stephanie J. ORCID: https://orcid.org/0000-0003-4911-5290
(2018):
Meta-analysis of exome array data identifies six novel genetic loci for lung function.
In: Wellcome Open Research, Bd. 3
Abstract
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.
| Dokumententyp: | Zeitschriftenartikel |
|---|---|
| Keywords: | Lung function, respiratory, exome array, GWAS, COPD |
| Fakultät: | Medizin > Institut und Poliklinik für Arbeits-, Sozial- und Umweltmedizin |
| Themengebiete: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit |
| ISSN: | 2398-502X |
| Sprache: | Englisch |
| Dokumenten ID: | 119646 |
| Datum der Veröffentlichung auf Open Access LMU: | 26. Jul. 2024, 05:26 |
| Letzte Änderungen: | 26. Jul. 2024, 05:26 |
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