title: Angiotensin-converting enzyme (ACE) gene polymorphisms are associated with idiopathic pulmonary fibrosis.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  Although absolute LD (|D'|= 1 and r(2 )= 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.
  
  
  CONCLUSIONS
  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.
authors: Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital, 657, Hannam-dong, Yongsan-gu, Seoul, 140-743, South Korea.
authors: Soo-Taek
authors: ST
authors: Uh
authors: Tae-Hoon
authors: TH
authors: Kim
authors: Eun-Young
authors: EY
authors: Shim
authors: An-Soo
authors: AS
authors: Jang
authors: Sung-Woo
authors: SW
authors: Park
authors: Jong-Sook
authors: JS
authors: Park
authors: Byung-Lae
authors: BL
authors: Park
authors: Byoung Whui
authors: BW
authors: Choi
authors: Hyoung Doo
authors: HD
authors: Shin
authors: Dong Soon
authors: DS
authors: Kim
authors: Choon-Sik
authors: CS
authors: Park
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D016014:Linear Models; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D012307:Risk Factors
chemical_list: C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A
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