title: ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.
abstract: We performed a genomewide scan in six multiplex families with familial idiopathic pulmonary fibrosis (IPF) who originated from southeastern Finland. The majority of the Finnish multiplex families were clustered in the region, and the population history suggested that the clustering might be explained by an ancestor shared among the patients. The genomewide scan identified five loci of interest. The hierarchical fine mapping in an extended data set with 24 families originating from the same geographic region revealed a shared 110 kb to 13 Mb haplotype on chromosome 4q31, which was significantly more frequent among the patients than in population-based controls (odds ratio 6.3; 95% CI 2.5-15.9; P = .0001). The shared haplotype harbored two functionally uncharacterized genes, ELMOD2 and LOC152586, of which only ELMOD2 was expressed in lung and showed significantly decreased messenger-RNA expression in IPF lung (n = 6) when compared with that of healthy lung (n = 7; P = .05). Our results suggest ELMOD2 as a novel candidate gene for susceptibility in familial IPF.
authors.affiliation: Department of Pulmonary Medicine, Helsinki University Central Hospital, Finland. ulla.hodgson@hus.fi.
authors.forename: Ulla
authors.initials: U
authors.lastname: Hodgson
authors.forename: Ville
authors.initials: V
authors.lastname: Pulkkinen
authors.forename: Morag
authors.initials: M
authors.lastname: Dixon
authors.forename: Myriam
authors.initials: M
authors.lastname: Peyrard-Janvid
authors.forename: Marko
authors.initials: M
authors.lastname: Rehn
authors.forename: Paivi
authors.initials: P
authors.lastname: Lahermo
authors.forename: Vesa
authors.initials: V
authors.lastname: Ollikainen
authors.forename: Kaisa
authors.initials: K
authors.lastname: Salmenkivi
authors.forename: Vuokko
authors.initials: V
authors.lastname: Kinnula
authors.forename: Juha
authors.initials: J
authors.lastname: Kere
authors.forename: Pentti
authors.initials: P
authors.lastname: Tukiainen
authors.forename: Tarja
authors.initials: T
authors.lastname: Laitinen
mesh_terms: D002894:Chromosomes, Human, Pair 4; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011658:Pulmonary Fibrosis / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D003598:Cytoskeletal Proteins; C512339:ELMOD2 protein, human; D012333:RNA, Messenger