title: Angiotensin-converting enzyme insertion/deletion gene polymorphism is associated with dermatomyositis.
abstract: OBJECTIVE
  The cornerstone of dermatomyositis (DM) pathogenesis involves vascular disturbance that leads to hypoxia, capillary necrosis and muscle perifascicular atrophy. Hence, the hypothesis is that the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism could be associated with susceptibility to DM.
  
  
  METHODS
  A single centre, case control study that genotyped ACE gene in 88 DM and 99 healthy individuals. The ACE gene polymorphism was determined by melting curve analysis of real-time polymerase chain reaction products using SYBR Green.
  
  
  RESULTS
  The DM and the control subjects had a comparable mean age, gender frequency and ethnicity. The frequency of the D allele was higher in DM than in the control individuals (63.6% vs 55.6%, respectively). The DM had more ACE D/D and less ACE I/D genotype when compared to the control individuals, whereas the ACE I/I genotype distribution was similar in both case and control groups. Moreover, after sex-age-adjusted analysis, the ACE D/D genotype was strongly associated with DM disease (odds ratio (OR) 2.44, 95% confidence interval (CI): 1.17-4.37), in contrast to ACE I/D genotype (OR 0.51, 95% CI: 0.28-0.93).
  
  
  CONCLUSIONS
  Homozygous ACE D/D was associated significantly with the DM risk. Further investigations are required to clarify and to confirm the association of these genes with DM susceptibility.
authors.affiliation: Division of Rheumatology, Universidade de São Paulo, Brazil samuel.shinjo@gmail.com.
authors.forename: Samuel K
authors.initials: SK
authors.lastname: Shinjo
authors.affiliation: Department of Neurology, Universidade de São Paulo, Brazil.
authors.forename: Miyuki
authors.initials: M
authors.lastname: Uno
authors.affiliation: Department of Neurology, Universidade de São Paulo, Brazil.
authors.forename: Sueli M
authors.initials: SM
authors.lastname: Oba-Shinjo
authors.affiliation: Department of Neurology, Universidade de São Paulo, Brazil.
authors.forename: Suely K N
authors.initials: SK
authors.lastname: Marie
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003882:Dermatomyositis / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics*; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction
chemical_list: C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A
keywords: Angiotensin converting enzyme; comorbidities; dermatomyositis; gene; polymorphism