, Volume 191, Issue 4, pp 345–351 | Cite as

Angiotensin-Converting Enzyme (ACE) Gene Polymorphisms are Associated with Idiopathic Pulmonary Fibrosis

  • Soo-Taek Uh
  • Tae-Hoon Kim
  • Eun-Young Shim
  • An-Soo Jang
  • Sung-Woo Park
  • Jong-Sook Park
  • Byung-Lae Park
  • Byoung Whui Choi
  • Hyoung Doo Shin
  • Dong Soon Kim
  • Choon-Sik Park



Idiopathic pulmonary fibrosis (IPF) is characterized by progressive dyspnea and worsening lung function. ACE is increased in the bronchoalveolar lavage fluid from patients with IPF, suggesting the role of ACE in the pathogenesis of IPF. We evaluated the role of single-nucleotide polymorphisms (SNPs) in the development risk of IPF.


Two-hundred twenty patients with IPF and 456 healthy subjects were included in this study. Eleven polymorphisms were selected among those reported previously. Genotype was performed by single base extension.


Although absolute LD (|D′| = 1 and r = 1) was not present, 11 SNPs showed tight LDs. The logistic analysis of the all of 11 SNPs on the ACE genes between patients with IPF and healthy subjects were found to be related with the risk of IPF in recessive type. However, in patients with IPF diagnosed by surgical lung biopsy, only two SNP of −5538T>C and +21288_insdel SNPs were related with the risk of IPF in co-dominant type, and there were no SNPs related with the risk of IPF in dominant type. In patients with IPF diagnosed by clinical criteria or surgical lung biopsy, four SNPs on promoter (−5538T>C, −5508A>C, −3927T>C, −115T>C), one on intron (+15276A>G), one on exon (+21181G>A), and one in three prime region (+21288_insdel) were related with the risk of IPF.


This study showed a newly discovered SNP of ACE associated with the risk of development of IPF. ACE −5538T>C and −5508A>C significantly associated with risk of IPF in Korea.


Angiotensin-converting enzyme Genetic polymorphism Genotype Pulmonary fibrosis SNPs 



The DNA samples were generously provided by the Soonchunhyang University, Bucheon Hospital Biobank, a member of the National Biobank of Korea, supported by the Ministry of Health, Welfare and Family Affairs, Republic of Korea (Approval No. SCHBC-IRB-06-05). The English in this manuscript has been checked by textcheck (

Conflict of interest

The authors declare that they have no conflicts of interest.

Supplementary material

408_2013_9469_MOESM1_ESM.docx (17 kb)
Supplementary material 1 (DOCX 16 kb)


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Soo-Taek Uh
    • 2
  • Tae-Hoon Kim
    • 1
  • Eun-Young Shim
    • 1
  • An-Soo Jang
    • 1
  • Sung-Woo Park
    • 1
  • Jong-Sook Park
    • 1
  • Byung-Lae Park
    • 3
  • Byoung Whui Choi
    • 4
  • Hyoung Doo Shin
    • 3
    • 5
  • Dong Soon Kim
    • 6
  • Choon-Sik Park
    • 1
    • 7
  1. 1.Genome Research Center for Allergy and Respiratory DiseasesSoonchunhyang University Bucheon HospitalBucheonSouth Korea
  2. 2.Division of Allergy and Respiratory MedicineSoonchunhyang University Seoul HospitalSeoulSouth Korea
  3. 3.Department of Genetic EpidemiologySNP-Genetics Inc.SeoulSouth Korea
  4. 4.Department of Internal MedicineChung Ang University College of MedicineSeoulSouth Korea
  5. 5.Department of Life ScienceSogang UniversitySeoulSouth Korea
  6. 6.Division of Pulmonary and Critical Care Medicine, Asan Medical CenterUniversity of UlsanSeoulSouth Korea
  7. 7.Division of Allergy and Respiratory Medicine, Department of Internal MedicineSoonchunhyang University Bucheon HospitalBucheonSouth Korea

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