title: Screening ofSMAD7in Malay patients with ventricular septal defect.
abstract: Ventricular septal defect (VSD) is the most common form of cardiac malformations accounting approximately 20% of all congenital heart defects.SMAD7is an inhibitory protein that antagonizes the signalling of TGF-β family member and has been found in the development and function of mouse heart models. This study aims to screen and identify the polymorphisms ofSMAD7exonic regions in Malay population with VSD. Peripheral blood samples were collected and extracted from 30 clinically diagnosed VSD patients. PCR amplification was performed using 12 sets of designed primers encompassing seven exons ofSMAD7. Re-sequencing was conducted to characterize the polymorphisms ofSMAD7. Observed polymorphisms were then genotyped in 30 healthy individuals using both re-sequencing and allele-specific PCR techniques. A total of 10 variants were identified in the patient population located in the upstream (rs7236774), exonic (rs368427729, rs145686330, rs3764482, rs3809922, rs780863704 and rs3809923), intronic (rs3736242) and 3'UTR regions (rs375444823 and rs16950113). No significant difference of genotype and allele frequency was observed among these SNPs. Two synonymous variants (rs3809922 and rs3809923) were found in complete linkage disequilibrium (r2=1.0) with each other indicate a strong correlation of these SNPs. The identification of these SNPs provides a new perspective of the VSD causation.
authors.affiliation: Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Siti Aisyah Faten
authors.initials: SA
authors.lastname: Mohamed Sa'dom
authors.affiliation: Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Hashima
authors.initials: H
authors.lastname: Hashim
authors.affiliation: Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Sathiya
authors.initials: S
authors.lastname: Maran
authors.affiliation: Department of Pediatrics Medicine, School of Medical Sciences, Universiti Sains Malaysia 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Mohd Rizal
authors.initials: MR
authors.lastname: Mohd Zain
authors.affiliation: Department of Pediatrics Medicine, School of Medical Sciences, Universiti Sains Malaysia16150 Kubang Kerian, Kelantan, Malaysia; Faculty of Medicine and Health Sciences, Universiti Sultan Zainal Abidin20400 Kuala Terengganu, Terengganu, Malaysia.
authors.forename: Wan Pauzi
authors.initials: WP
authors.lastname: Wan Ibrahim
authors.affiliation: Department of Pediatric, Hospital Raja Perempuan Zainab II 15586 Kota Bharu, Kelantan, Malaysia.
authors.forename: Abdul Rahim
authors.initials: AR
authors.lastname: Wong
authors.affiliation: Department of Pediatrics Medicine, School of Medical Sciences, Universiti Sains Malaysia16150 Kubang Kerian, Kelantan, Malaysia; Pediatric Cardiac Surgery, University Hospital LeicesterLeicester, United Kingdom.
authors.forename: Antonio F
authors.initials: AF
authors.lastname: Corno
authors.affiliation: Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Wan Rohani
authors.initials: WR
authors.lastname: Wan Taib
authors.affiliation: Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Huay Lin
authors.initials: HL
authors.lastname: Tan
keywords: MH2 domain; SMAD7; Ventricular septal defect; linkage disequilibrium