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Genome-wide association study identifies five loci associated with lung function


Repapi, Emmanouela; Sayers, Ian; Wain, Louise V; Burton, Paul R; Johnson, Toby; Obeidat, Ma'en; Zhao, Jing Hua; Ramasamy, Adaikalavan; Zhai, Guangju; Vitart, Veronique et al.
Genome-wide association study identifies five loci associated with lung function // Nature genetics, 42 (2010), 12; 36-44 (međunarodna recenzija, članak, znanstveni)


Naslov
Genome-wide association study identifies five loci associated with lung function

Autori
Repapi, Emmanouela ; Sayers, Ian ; Wain, Louise V ; Burton, Paul R ; Johnson, Toby ; Obeidat, Ma'en ; Zhao, Jing Hua ; Ramasamy, Adaikalavan ; Zhai, Guangju ; Vitart, Veronique ; Huffman, Jennifer E ; Igl, Wilmar ; Albrecht, Eva ; Deloukas, Panos ; Henderson, John ; Granell, Raquel ; McArdle, Wendy L ; Rudnicka, Alicja R ; Barroso, Inês ; Loos, Ruth J F ; Wareham, Nicholas J ; Mustelin, Linda ; Rantanen, Taina ; Surakka, Ida ; Imboden, Medea ; H Wichmann, Erich ; Grković, Ivica ; Janković, Stipan ; Zgaga, Lina ; Hartikainen, Anna-Liisa ; Peltonen, Leena ; Gyllensten, Ulf ; Johansson, Åsa ; Zaboli, Ghazal ; Campbell, Harry ; Wild, Sarah H ; Wilson, James F ; Glaser, Sven ; Homuth, Georg ; Völzke, Henry ; Mangino, Massimo ; Soranzo, Nicole ; Spector, Tim D ; Polašek, Ozren ; Rudan, Igor ; Wright, Alan F ; Heliövaara, Markku ; Ripati, Samuli ; Pouta, Anneli ; Naluai, Åsa Torinsson ; Olin, Anna-Carin ; Torén, Kjell ; Cooper, Matthew N ; James, Alan L ; Palmer, Lyle J ; Hingorani, Aroon D ; Wannamethee, S Goya ; Whincup, Peter H ; Davey Smith, George ; Ebrahim, Shah ; McKeever, Tricia M ; Pavord, Ian D ; MacLeod, Andrew K ; Morris, Andrew D ; Porteous, David J ; Cooper, Cyrus ; Dennison, Elaine ; Shaheen, Seif ; Karrasch, Stefan ; Schnabel, Eva ; Schulz, Holger ; Grallert, Harald ; Bouatia-Naji, Nabila ; Delplanque, Jérôme ; Froguel, Philippe ; Blakey, John D ; Britton, John R ; Morris, Richard W ; Holloway, John W ; Lawlor, Debbie A ; Hui, Jennie ; Nyberg, Fredrik ; Jarvelin, Marjo-Riitta ; Jackson, Cathy ; Kähönen, Mika ; Kaprio, Jaakko ; Probst-Hensch, Nicole M ; Koch, Beate ; Hayward, Caroline ; Evans, David M ; Elliot, Paul ; Strachan, David P ; Hall, Ian P ; Tobin, Martin D

Izvornik
Nature genetics (1061-4036) 42 (2010), 12; 36-44

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Genome-wide association study; lung function

Sažetak
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 (FEV1) and the ratio of FEV1 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 ≤ 32, 184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21, 209) and the Health 2000 survey (n ≤ 883). We confirmed the reported locus at 4q31 and identified associations with FEV1 or FEV1/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 × 10−12), 4q24 in GSTCD (2.18 × 10−23), 5q33 in HTR4 (P = 4.29 × 10−9), 6p21 in AGER (P = 3.07 × 10−15) and 15q23 in THSD4 (P = 7.24 × 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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita



POVEZANOST RADA


Projekt / tema
216-0000000-0525 - Rana dijagnostika i trombolitičko liječenje ishemijskog moždanog udara (Stipan Janković, )
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Ozren Polašek, )
216-2160528-0067 - Mehanizmi srčane boli u ishemiji, metaboličkim promjenama i u starosti (Ivica Grković, )

Ustanove
Medicinski fakultet, Split

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE