Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians
Congenital heart disease (CHD) mainly is caused by the incomplete development of the heart during the first 6 weeks of pregnancy. Chromosomal and genetic abnormalities in the child and high levels of homocysteine in the blood are some of the risk factors related to CHD. Several studies in various po...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Marsland Press
2014
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| Online Access: | http://psasir.upm.edu.my/id/eprint/36449/ http://psasir.upm.edu.my/id/eprint/36449/1/Analysis%20of%20homocysteine%20metabolism%20enzyme%20gene%20polymorphisms%20in%20non.pdf |
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| author | Mohamad, Nur Afiqah Vasudevan, Ramachandran Ismail, Patimah Jafar, Nur Ilyana Etemad, Ali Abdul Aziz, Ahmad Fazli Al-Shawee, Nora Fawzi Kadhim Alwi, Mazeni |
| author_facet | Mohamad, Nur Afiqah Vasudevan, Ramachandran Ismail, Patimah Jafar, Nur Ilyana Etemad, Ali Abdul Aziz, Ahmad Fazli Al-Shawee, Nora Fawzi Kadhim Alwi, Mazeni |
| author_sort | Mohamad, Nur Afiqah |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Congenital heart disease (CHD) mainly is caused by the incomplete development of the heart during the first 6 weeks of pregnancy. Chromosomal and genetic abnormalities in the child and high levels of homocysteine in the blood are some of the risk factors related to CHD. Several studies in various populations have been done to determine the candidate genes in the predisposition to CHD with contradictory results, but there have been no studies that had been found in Malaysian CHD patients on homocysteine gene polymorphisms. Hence, this study was conducted to determine the allelic and genotypic analysis of the polymorphisms in candidate genes of the homocysteine enzymes; Methylenetetrahydrofolate Reductase (MTHFR), Cystathionine-b-synthase (CBS), Methionine Synthase (MTR) and Methionine Synthase Reductase (MTRR) genes. Based on the inclusion and exclusion criteria, buccal or blood samples were collected from 150 Malaysian non-syndromic CHD patients and 150 samples from healthy subjects as controls with no matching of age, genders and race between cases and controls. Genomic DNA was extracted from the samples using commercially available kits and the genotyping analysis for C677T MTHFR, A1298C MTHFR, A66G MTRR, A2756G MTR and 844ins68 CBS gene polymorphisms were analyzed using PCR-RFLP analysis. There was a significant difference observed in MTHFR A1298C gene polymorphism between cases and controls (P=0.008). However, there was no significant difference was observed for MTHFR C677T, MTRR A66G, MTR A2756G and CBS 844ins68 gene polymorphism. The association of MTHFR A1298C with the development of CHD in this study emphasis the role of MTHFR gene in the pathogenesis of non-syndromic CHD in Malaysian subjects. |
| first_indexed | 2025-11-15T09:32:52Z |
| format | Article |
| id | upm-36449 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T09:32:52Z |
| publishDate | 2014 |
| publisher | Marsland Press |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-364492018-07-20T08:53:07Z http://psasir.upm.edu.my/id/eprint/36449/ Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians Mohamad, Nur Afiqah Vasudevan, Ramachandran Ismail, Patimah Jafar, Nur Ilyana Etemad, Ali Abdul Aziz, Ahmad Fazli Al-Shawee, Nora Fawzi Kadhim Alwi, Mazeni Congenital heart disease (CHD) mainly is caused by the incomplete development of the heart during the first 6 weeks of pregnancy. Chromosomal and genetic abnormalities in the child and high levels of homocysteine in the blood are some of the risk factors related to CHD. Several studies in various populations have been done to determine the candidate genes in the predisposition to CHD with contradictory results, but there have been no studies that had been found in Malaysian CHD patients on homocysteine gene polymorphisms. Hence, this study was conducted to determine the allelic and genotypic analysis of the polymorphisms in candidate genes of the homocysteine enzymes; Methylenetetrahydrofolate Reductase (MTHFR), Cystathionine-b-synthase (CBS), Methionine Synthase (MTR) and Methionine Synthase Reductase (MTRR) genes. Based on the inclusion and exclusion criteria, buccal or blood samples were collected from 150 Malaysian non-syndromic CHD patients and 150 samples from healthy subjects as controls with no matching of age, genders and race between cases and controls. Genomic DNA was extracted from the samples using commercially available kits and the genotyping analysis for C677T MTHFR, A1298C MTHFR, A66G MTRR, A2756G MTR and 844ins68 CBS gene polymorphisms were analyzed using PCR-RFLP analysis. There was a significant difference observed in MTHFR A1298C gene polymorphism between cases and controls (P=0.008). However, there was no significant difference was observed for MTHFR C677T, MTRR A66G, MTR A2756G and CBS 844ins68 gene polymorphism. The association of MTHFR A1298C with the development of CHD in this study emphasis the role of MTHFR gene in the pathogenesis of non-syndromic CHD in Malaysian subjects. Marsland Press 2014 Article NonPeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/36449/1/Analysis%20of%20homocysteine%20metabolism%20enzyme%20gene%20polymorphisms%20in%20non.pdf Mohamad, Nur Afiqah and Vasudevan, Ramachandran and Ismail, Patimah and Jafar, Nur Ilyana and Etemad, Ali and Abdul Aziz, Ahmad Fazli and Al-Shawee, Nora Fawzi Kadhim and Alwi, Mazeni (2014) Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians. Life Science Journal, 11 (8). pp. 318-326. ISSN 1097-8135; ESSN: 2372-613X http://www.lifesciencesite.com/lsj/life1108/ 10.7537/marslsj110814.43 |
| spellingShingle | Mohamad, Nur Afiqah Vasudevan, Ramachandran Ismail, Patimah Jafar, Nur Ilyana Etemad, Ali Abdul Aziz, Ahmad Fazli Al-Shawee, Nora Fawzi Kadhim Alwi, Mazeni Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians |
| title | Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians |
| title_full | Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians |
| title_fullStr | Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians |
| title_full_unstemmed | Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians |
| title_short | Analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among Malaysians |
| title_sort | analysis of homocysteine metabolism enzyme gene polymorphisms in non-syndromic congenital heart disease patients among malaysians |
| url | http://psasir.upm.edu.my/id/eprint/36449/ http://psasir.upm.edu.my/id/eprint/36449/ http://psasir.upm.edu.my/id/eprint/36449/ http://psasir.upm.edu.my/id/eprint/36449/1/Analysis%20of%20homocysteine%20metabolism%20enzyme%20gene%20polymorphisms%20in%20non.pdf |