Genome-wide association analysis identifies six new loci associated with forced vital capacity

Loth, D.W.; Artigas, M.S.; ...; Zgaga, Lina; ...; Rudan, Igor; ...; Polašek, Ozren; Zemunik, Tatijana; Kolčić, Ivana; ...; London, S.J.

doi:10.1038/ng.3011

Pregled bibliografske jedinice broj: 732859

Genome-wide association analysis identifies six new loci associated with forced vital capacity

Loth, D.W.; Artigas, M.S.; ...; Zgaga, Lina; ...; Rudan, Igor; ...; Polašek, Ozren; Zemunik, Tatijana; Kolčić, Ivana et al.

Genome-wide association analysis identifies six new loci associated with forced vital capacity // Nature genetics, 46 (2014), 7; 669-677 doi:10.1038/ng.3011 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 732859 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Genome-wide association analysis identifies six new loci associated with forced vital capacity

Autori
Loth, D.W. ; Artigas, M.S. ; ... ; Zgaga, Lina ; ... ; Rudan, Igor ; ... ; Polašek, Ozren ; Zemunik, Tatijana ; Kolčić, Ivana ; ... ; London, S.J.

Izvornik
Nature genetics (1061-4036) 46 (2014), 7; 669-677

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

Ključne riječi
lung; spriometry; SNP; gene

Sažetak
Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52, 253 individuals from 26 studies and followed up the top associations in 32, 917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease

Izvorni jezik
Engleski

POVEZANOST RADA

Projekti:
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Polašek, Ozren, MZOS ) ( CroRIS)

Ustanove:
Nastavni zavod za javno zdravstvo "Dr. Andrija Štampar",
Medicinski fakultet, Split

Profili:

Tatijana Zemunik (autor)