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Mapping Susceptibility Loci to Diffuse Panbronchiolitis
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A2284 - Mapping Susceptibility Loci to Diffuse Panbronchiolitis
Author Block: D. Weng1, D. Tang1, L. Huiping2; 1Respiratory Medicine, Shanghai Pulmonary Hospital, Shanghai, China, 2Shanghai Pulmonary Hospital, Shanghai, China.
Diffuse panbronchiolitis(DPB) is characterized by chronic inflammation in respiratory bronchioles of whole lung. The fact that DPB is connected with polygenic predisposition has been widely accepted. And some studies[1] find that the main gene may be located between the HLA-A and HLA-B loci on the short arm of human chromosome 6. MUC5AC[2],MUC5B[3] genes are also learned on affecting the immune function and mucus overproduction of DPB patients.But these findings remain controversial in the area of DPB . To accumulate the knwoledge of susceptibility loci to diffuse panbronchiolitis, Our team found 10 DPB cases coming from five Chinese families. The ten family cases were performed whole genome sequencing. The results were compared with human genome reference and then were filtered with the help of bioinformatics tools. 44 candidate genes were identified. We used ‘Golden standard’ sequencing way, Sanger sequencing to verify the correctness of whole genome sequencing. 53 sporadic cases of DPB and 39 health donors were connected to be performed Sanger sequencing on the 44 candidate genes. Finally we identified 2 mutation genes MUC19 and EMCN might be a susceptible gene. We then measured the mRNA expression of MUC19 and EMCN in patients and health donors, the results are in accordance with the mutation frequencies. We further analyse and predict that MUC19 and EMCN involve in the process of DPB pathogenesis. [1] Keicho N, Ohashi J, Tamiya G, et al. Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis. Am J Hum Genet. 2000 Feb;66(2):501-7.[2] Kaneko Y, Yanagihara K, Seki M, Kuroki M, et al. Clarithromycin inhibits overproduction of muc5ac core protein in murine model of diffuse panbronchiolitis. Am J Physiol Lung Cell Mol Physiol. 2003 Oct;285(4):L847-53. Epub 2003 Jun 20.[3] Kamio K, Matsushita I, Hijikata M, Kobashi Y, et al. Promoter analysis and aberrant expression of the MUC5B gene in diffuse panbronchiolitis. Am J Respir Crit Care Med. 2005 May 1;171(9):949-57. Epub 2005 Feb 11.
Author Block: D. Weng1, D. Tang1, L. Huiping2; 1Respiratory Medicine, Shanghai Pulmonary Hospital, Shanghai, China, 2Shanghai Pulmonary Hospital, Shanghai, China.
Diffuse panbronchiolitis(DPB) is characterized by chronic inflammation in respiratory bronchioles of whole lung. The fact that DPB is connected with polygenic predisposition has been widely accepted. And some studies[1] find that the main gene may be located between the HLA-A and HLA-B loci on the short arm of human chromosome 6. MUC5AC[2],MUC5B[3] genes are also learned on affecting the immune function and mucus overproduction of DPB patients.But these findings remain controversial in the area of DPB . To accumulate the knwoledge of susceptibility loci to diffuse panbronchiolitis, Our team found 10 DPB cases coming from five Chinese families. The ten family cases were performed whole genome sequencing. The results were compared with human genome reference and then were filtered with the help of bioinformatics tools. 44 candidate genes were identified. We used ‘Golden standard’ sequencing way, Sanger sequencing to verify the correctness of whole genome sequencing. 53 sporadic cases of DPB and 39 health donors were connected to be performed Sanger sequencing on the 44 candidate genes. Finally we identified 2 mutation genes MUC19 and EMCN might be a susceptible gene. We then measured the mRNA expression of MUC19 and EMCN in patients and health donors, the results are in accordance with the mutation frequencies. We further analyse and predict that MUC19 and EMCN involve in the process of DPB pathogenesis. [1] Keicho N, Ohashi J, Tamiya G, et al. Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis. Am J Hum Genet. 2000 Feb;66(2):501-7.[2] Kaneko Y, Yanagihara K, Seki M, Kuroki M, et al. Clarithromycin inhibits overproduction of muc5ac core protein in murine model of diffuse panbronchiolitis. Am J Physiol Lung Cell Mol Physiol. 2003 Oct;285(4):L847-53. Epub 2003 Jun 20.[3] Kamio K, Matsushita I, Hijikata M, Kobashi Y, et al. Promoter analysis and aberrant expression of the MUC5B gene in diffuse panbronchiolitis. Am J Respir Crit Care Med. 2005 May 1;171(9):949-57. Epub 2005 Feb 11.
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