ELMOD2

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• 作者：Ulla Hodgson ; Ville Pulkkinen ; Morag Dixon ; Myriam Peyrard-Janvid ; Marko Rehn ; Pä ; ivi Lahermo ; Vesa Ollikainen ; Kaisa Salmenkivi ; Vuokko Kinnula ; Juha Kere ; Pentti Tukiainen ; Tarja Laitinen
• 刊名：The American Journal of Human Genetics
• 出版年：2006
• 出版时间：July 2006
• 年：2006
• 卷：79
• 期：1
• 页码：149-154
• 全文大小：751 K

文摘

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.