2014 Fiscal Year Final Research Report
Comprehensive analysis of severe asthma pathogenesis
| Project/Area Number |
24390206
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Respiratory organ internal medicine
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| Research Institution | University of Tsukuba |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
NOGUCHI Emiko 筑波大学, 医学医療系, 教授 (40344882)
TAMARI Mayumi 独立行政法人理化学研究所, 呼吸器疾患研究チーム, チームリーダー (00217184)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Keywords | 喘息 / COPD / 呼吸機能 / GWAS / HAS2 / PBMUCL2 / DPB |
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| Outline of Final Research Achievements |
To identify additional genetic determinants of susceptibility to asthma or COPD, we conducted GWAS using a selected Japanese population with reduced tobacco smoking exposure or with late-onset-asthma.These GWASs identified HAS2 gene and PBMUCL2 gene as susceptibility genes for particular phenotypes of asthma.PBMUCL2 gene was also associated with COPD or DPB.
We have also conducted GWAS for FEV1/FVC, which failed to find any significant regions; however, this GWAS indicated that the heritability for FEV1/FVC were 41.6% in a Japanese population.Therefore, given many loci with individual weak effects may contribute to asthma risk, in this study, we created a quantitative score of genetic load based on 16 SNPs implicated in lower lung function both in Japanese and non-Japanese populations. This genetic risk score (GRS) for lower FEV1/FVC was consistently associated with the onset of asthma in two independent Japanese populations as well as with the onset of COPD.
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| Free Research Field |
呼吸器内科
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