Mutational screening of exon 1 of smad7 in Malay patients with ventricular septal defect
Congenital heart disease (CHD) affects approximately 8 in every 1000 live births with ventricular septal defect (VSD) being the most common phenotype. VSD is thought to arise from genetics and environmental factors, however most of the causes remain unknown. It was hypothesized that SMAD7 gene co...
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| Format: | Thesis |
| Language: | English |
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2015
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| Online Access: | http://eprints.usm.my/39777/ http://eprints.usm.my/39777/1/Dr_Hashima_Hashim_%28Medical_Genetics%29-24_pages.pdf |
| _version_ | 1848878838689300480 |
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| author | Hashim, Hashima |
| author_facet | Hashim, Hashima |
| author_sort | Hashim, Hashima |
| building | USM Institutional Repository |
| collection | Online Access |
| description | Congenital heart disease (CHD) affects approximately 8 in every 1000 live births with
ventricular septal defect (VSD) being the most common phenotype. VSD is thought to
arise from genetics and environmental factors, however most of the causes remain
unknown. It was hypothesized that SMAD7 gene could influence the risk of VSD.
SMAD7 is a potent antagonist of TGF-signalling pathways and has been found to be
involved in embryonic cardiovascular development in mouse models. However, its role
in the pathogenesis of VSD in human has yet to be fully understood. Therefore, SMAD7
gene was examined in for its susceptibility to VSD in this study.
A case-control study was conducted to examine whether SMAD7 is associated with
VSD in Malay population. Exon 1 of SMAD7 which encodes the functional MH1
domain was re-sequenced in 30 non-syndromic VSD patients and 30 control
individuals. One common upstream gene sequence, rs7236774 and one rare
synonymous sequence, rs368427729 were observed in both cases and controls. Further analysis on these two variations did not show any statistically significance association
with the risk of developing VSD.
In conclusion, this study has indicated that the exon 1 of SMAD7 was not associated
with VSD in Malay population. However, these findings could have been limited by
small sample size. Therefore, further study in a larger cohort is warranted to yield a
concrete evidence of this association.
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| first_indexed | 2025-11-15T17:37:42Z |
| format | Thesis |
| id | usm-39777 |
| institution | Universiti Sains Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T17:37:42Z |
| publishDate | 2015 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | usm-397772019-04-12T05:25:54Z http://eprints.usm.my/39777/ Mutational screening of exon 1 of smad7 in Malay patients with ventricular septal defect Hashim, Hashima RC666-701 Diseases of the circulatory (Cardiovascular) system Congenital heart disease (CHD) affects approximately 8 in every 1000 live births with ventricular septal defect (VSD) being the most common phenotype. VSD is thought to arise from genetics and environmental factors, however most of the causes remain unknown. It was hypothesized that SMAD7 gene could influence the risk of VSD. SMAD7 is a potent antagonist of TGF-signalling pathways and has been found to be involved in embryonic cardiovascular development in mouse models. However, its role in the pathogenesis of VSD in human has yet to be fully understood. Therefore, SMAD7 gene was examined in for its susceptibility to VSD in this study. A case-control study was conducted to examine whether SMAD7 is associated with VSD in Malay population. Exon 1 of SMAD7 which encodes the functional MH1 domain was re-sequenced in 30 non-syndromic VSD patients and 30 control individuals. One common upstream gene sequence, rs7236774 and one rare synonymous sequence, rs368427729 were observed in both cases and controls. Further analysis on these two variations did not show any statistically significance association with the risk of developing VSD. In conclusion, this study has indicated that the exon 1 of SMAD7 was not associated with VSD in Malay population. However, these findings could have been limited by small sample size. Therefore, further study in a larger cohort is warranted to yield a concrete evidence of this association. 2015 Thesis NonPeerReviewed application/pdf en http://eprints.usm.my/39777/1/Dr_Hashima_Hashim_%28Medical_Genetics%29-24_pages.pdf Hashim, Hashima (2015) Mutational screening of exon 1 of smad7 in Malay patients with ventricular septal defect. Masters thesis, Universiti Sains Malaysia. |
| spellingShingle | RC666-701 Diseases of the circulatory (Cardiovascular) system Hashim, Hashima Mutational screening of exon 1 of smad7 in Malay patients with ventricular septal defect |
| title | Mutational screening of exon 1 of smad7 in Malay patients
with ventricular septal defect
|
| title_full | Mutational screening of exon 1 of smad7 in Malay patients
with ventricular septal defect
|
| title_fullStr | Mutational screening of exon 1 of smad7 in Malay patients
with ventricular septal defect
|
| title_full_unstemmed | Mutational screening of exon 1 of smad7 in Malay patients
with ventricular septal defect
|
| title_short | Mutational screening of exon 1 of smad7 in Malay patients
with ventricular septal defect
|
| title_sort | mutational screening of exon 1 of smad7 in malay patients
with ventricular septal defect |
| topic | RC666-701 Diseases of the circulatory (Cardiovascular) system |
| url | http://eprints.usm.my/39777/ http://eprints.usm.my/39777/1/Dr_Hashima_Hashim_%28Medical_Genetics%29-24_pages.pdf |