MTRR gene variants may predispose to the risk of congenital heart disease in down syndrome patients of Indian origin
Joint Authors
Panigrahi, Inusha
Asim, Ambrin
Agarwal, Sarita
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 18, Issue 1 (31 Jan. 2017), pp.61-66, 6 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2017-01-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Topics
Abstract EN
Background : Down syndrome (DS), also called as trisomy 21, is one of the most leading cause of intellectual disability.
DS is associated with a number of phenotypes including Congenital Heart Disease (CHD), Leukemia, Alzheimer’s disease, Hirschsprung’s disease and others.
DS affects about 1 in 700 live births.
Objectives : The study aims to investigate the association of MTRR (Methionine synthase reductase) gene polymorphisms (C524T and A66G) with the risk of CHD in DS patients.
Methods : PCR and PCR-RFLP methods were used for the genotyping of study samples and results were validated using Sanger’s sequencing.
Results : MTRR C524T and A66G were significantly associated with the increased risk of CHD in DS.
We have also reported two novel polymorphisms, T19775C and 19778_19778delG, in DS with CHD cases with a frequency of 93% and 40%, respectively.
These two polymorphisms were not found among DS without CHD group.
Conclusion : Results from this study indicate that the MTRR C524T and A66G polymorphisms influence the risk of the occurrence of CHD in DS patients of Indian Origin.
This is the first report from India highlighting the potential association of MTRR C524T and A66G polymorphisms with CHD in DS.
We are also the first one to report two novel polymorphisms, T19775C and 19778_19778delG in DS with CHD group.
Hence these four polymorphisms can be used to evaluate the risk of CHD in DS patients
American Psychological Association (APA)
Asim, Ambrin& Agarwal, Sarita& Panigrahi, Inusha. 2017. MTRR gene variants may predispose to the risk of congenital heart disease in down syndrome patients of Indian origin. The Egyptian Journal of Medical Human Genetics،Vol. 18, no. 1, pp.61-66.
https://search.emarefa.net/detail/BIM-777821
Modern Language Association (MLA)
Asim, Ambrin…[et al.]. MTRR gene variants may predispose to the risk of congenital heart disease in down syndrome patients of Indian origin. The Egyptian Journal of Medical Human Genetics Vol. 18, no. 1 (Jan. 2017), pp.61-66.
https://search.emarefa.net/detail/BIM-777821
American Medical Association (AMA)
Asim, Ambrin& Agarwal, Sarita& Panigrahi, Inusha. MTRR gene variants may predispose to the risk of congenital heart disease in down syndrome patients of Indian origin. The Egyptian Journal of Medical Human Genetics. 2017. Vol. 18, no. 1, pp.61-66.
https://search.emarefa.net/detail/BIM-777821
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 65-66
Record ID
BIM-777821