• Khalid M Al-Harbi, Ibrahim S Almuzaini, Mohamed M Morsy, Nada A Abdelaziz, Alia M Al-Balawi, and Atiyeh M Abdallah.
• Cardiogenetics Unit, Center for Genetics and Inherited Diseases, Taibah University, Al-Madinah, Kingdom of Saudi Arabia. E-mail. drkharbi@yahoo.com.
• Saudi Med J. 2015 Feb 1; 36 (2): 176180176-80.

ObjectivesTo investigate the association between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and rheumatic heart disease (RHD) in Saudi patients.MethodsA 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.ResultsA 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).ConclusionThe 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.

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