2009 Fiscal Year Final Research Report
Identification of pulmonary emphysema-susceptibility genes and its application to DNA-based diagnosis
| Project/Area Number |
20790399
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Applied pharmacology
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| Research Institution | Nagasaki University |
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Principal Investigator |
NAKATOMI Katsumi Nagasaki University, 大学院・医歯薬学総合研究科, 助教 (90457531)
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| Research Collaborator |
KOHNO Shigeru 長崎大学, 大学院・医歯薬学総合研究科, 教授 (80136647)
TSUKAMOTO Kazuhiro 長崎大学, 大学院・医歯薬学総合研究科, 教授 (30253305)
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| Project Period (FY) |
2008 – 2009
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| Keywords | ファーマコゲノミクス |
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| Research Abstract |
Pulmonary emphysema (PE) is a multifactorial disorder characterized by destruction of alveolar septa, loss of lung elasticity, and enlargement of alveolar airspaces. Although the precise etiology of PE remains unknown, both several environmental factors such as cigarette smoking and multiple genetic factors may contribute to the pathogenesis of PE. In order to identify unknown genetic factors, I focused on the fucosyltransferase family, intracellular molecules in the signaling pathway of TGF-β and its receptors, and cigarette smoking-induced angiogenesis and anti-stress enzymes. Thus, I examined an association between polymorphisms of 52 single nucleotide polymorphisms (SNPs) in the 21 candidate genes and susceptibility to PE using 72 Japanese PE patients and 72 age- and gender-matched healthy control subjects. All participants were former or current smokers.
Univariate logistic regression analysis revealed that FUT6, Smad2, PlGH, and MFT1 appeared to be PE-susceptibility genes. However, subsequent multivariate logistic regression analysis indicated that FUT6, PlGH, and MFT1 are genetic determinants of PE in the Japanese population. Furthermore, the polymorphism of these genes identified in this study may be useful as a DNA-based diagnostic biomarker for identifying Japanese individuals at high-risk for PE.
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