title: Angiotensin-converting enzyme gene insertion/deletion polymorphism in Saudi patients with rheumatic heart disease.
abstract: OBJECTIVE
  To investigate the association between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and rheumatic heart disease (RHD) in Saudi patients.
  
  
  METHODS
  A case-control study was conducted in Saudi RHD patients. Genomic DNA was isolated from 99 RHD patients attending the Pediatric Cardiology Clinic at the Maternity and Children Hospital, Al-Madinah, Saudi Arabia from March 2013 to June 2014, and from 145 age- and gender-matched controls. Patient clinical records were reviewed to report major and minor modified Jones' criteria for diagnosis. The diagnosis was confirmed by echocardiography. The ACE I/D polymorphism was identified by polymerase chain reaction.
  
  
  RESULTS
  A significant difference in ACE D allele carriage (DD+ID) distribution between RHD cases and controls was identified (p=0.02, odds ratio = 3.6, 95% confidence interval: 1.2-10.8). The D allele carriage was significantly associated with development of mitral valve lesions alone (p=0.03).
  
  
  CONCLUSIONS
  The ACE I/D polymorphism is associated with an increased risk of RHD in the Saudi population. Further studies are needed to confirm our findings and to understand the molecular mechanisms underlying this association.
authors.affiliation: Cardiogenetics Unit, Center for Genetics and Inherited Diseases, Taibah University, Al-Madinah, Kingdom of Saudi Arabia. E-mail. drkharbi@yahoo.com.
authors.forename: Khalid M
authors.initials: KM
authors.lastname: Al-Harbi
authors.forename: Ibrahim S
authors.initials: IS
authors.lastname: Almuzaini
authors.forename: Mohamed M
authors.initials: MM
authors.lastname: Morsy
authors.forename: Nada A
authors.initials: NA
authors.lastname: Abdelaziz
authors.forename: Alia M
authors.initials: AM
authors.lastname: Al-Balawi
authors.forename: Atiyeh M
authors.initials: AM
authors.lastname: Abdallah
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012214:Rheumatic Heart Disease / Q000235:genetics*; D012529:Saudi Arabia; D055815:Young Adult
chemical_list: D007703:Peptidyl-Dipeptidase A