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Search: WFRF:(Burton John) > Peer-reviewed > Ripatti Samuli

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1.	Repapi, Emmanouela, et al. (author) Genome-wide association study identifies five loci associated with lung function. 2010 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:1, s. 36-44 Journal article (peer-reviewed)abstract Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n < or = 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n < or = 883). We confirmed the reported locus at 4q31 and identified associations with FEV(1) or FEV(1)/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 x 10(-12)), 4q24 in GSTCD (2.18 x 10(-23)), 5q33 in HTR4 (P = 4.29 x 10(-9)), 6p21 in AGER (P = 3.07 x 10(-15)) and 15q23 in THSD4 (P = 7.24 x 10(-15)). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.
2.	Soler Artigas, María, et al. (author) Effect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung function. 2011 In: American journal of respiratory and critical care medicine. - 1535-4970. ; 184:7, s. 786-95 Journal article (peer-reviewed)abstract Genomic loci are associated with FEV1 or the ratio of FEV1 to FVC in population samples, but their association with chronic obstructive pulmonary disease (COPD) has not yet been proven, nor have their combined effects on lung function and COPD been studied.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)Undo refine

Author/Editor: Cooper, Cyrus (2); Torinsson Naluai, Ås ... (2); Wareham, Nicholas J. (2); Surakka, Ida (2); Ripatti, Samuli (2)Undo refine; Kähönen, Mika (2); show more...; Nyberg, Fredrik, 196 ... (2); Albrecht, Eva (2); Karrasch, Stefan (2); Schulz, Holger (2); Olin, Anna-Carin, 19 ... (2); Barroso, Ines (2); Heliövaara, Markku (2); Pavord, Ian D. (2); Wain, Louise V (2); Obeidat, Ma'en (2); Zhao, Jing Hua (2); Johnson, Toby (2); Rantanen, Taina (1); Torén, Kjell, 1952 (1); Heinrich, Joachim (1); Imboden, Medea (1); Probst-Hensch, Nicol ... (1); Soranzo, Nicole (1); Campbell, Harry (1); Rudan, Igor (1); Strachan, David P (1); Deloukas, Panos (1); Johansson, Åsa (1); Marchini, Jonathan (1); Mangino, Massimo (1); Wichmann, H. Erich (1); Spector, Tim D. (1); Kaprio, Jaakko (1); Jarvelin, Marjo-Riit ... (1); Peltonen, Leena (1); Gyllensten, Ulf (1); Froguel, Philippe (1); Dominiczak, Anna F. (1); Ramasamy, Adaikalava ... (1); Zaboli, Ghazal (1); Igl, Wilmar (1); Wright, Alan F. (1); Wilson, James F. (1); Henderson, John (1); Zhai, Guangju (1); Huffman, Jennifer E (1); Evans, David M (1); Cadby, Gemma (1); Grkovic, Ivica (1); show less...

University: University of Gothenburg (2); Uppsala University (1)

Language: English (2)

Research subject (UKÄ/SCB): Natural sciences (1); Medical and Health Sciences (1)

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