ELMOD2 Is a Candidate Gene for Familial Idiopathic Pulmonary Fibrosis
| Autor: | Morag Dixon, Pentti Tukiainen, Tarja Laitinen, Ulla Hodgson, Ville Pulkkinen, Juha Kere, Vesa Ollikainen, Marko Rehn, Kaisa Salmenkivi, Vuokko L. Kinnula, Päivi Lahermo, Myriam Peyrard-Janvid |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Male
Candidate gene Pulmonary Fibrosis Population Biology Genetic determinism 03 medical and health sciences 0302 clinical medicine Report Pulmonary fibrosis medicine Genetics Humans Genetics(clinical) RNA Messenger education Genetics (clinical) 030304 developmental biology 0303 health sciences education.field_of_study Lung Haplotype Chromosome Odds ratio medicine.disease Pedigree Cytoskeletal Proteins medicine.anatomical_structure 030228 respiratory system Female Chromosomes Human Pair 4 |
| Zdroj: | The American Journal of Human Genetics. 79(1):149-154 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/504639 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|