Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 16
Print this page  Email this page Small font sizeDefault font sizeIncrease font size
ORIGINAL ARTICLE
Year : 2014  |  Volume : 20  |  Issue : 2  |  Page : 142-147

Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India


Department of Biotechnology, Human Molecular Genetics Laboratory, VBS Purvanchal University, Jaunpur, Uttar Pradesh, India

Correspondence Address:
Vandana Rai
Department of Biotechnology, Human Molecular Genetics Laboratory, VBS Purvanchal University, Jaunpur - 222 001, Uttar Pradesh
India
Login to access the Email id

Source of Support: This study was supported by the financial assistance from Department of Biotechnology, New Delhi (No BT/PR98887/SPD/11/1028/2007), for providing the financial support to Vandana Rai to conduct this study,, Conflict of Interest: None


DOI: 10.4103/0971-6866.142858

Rights and Permissions

Background: Down syndrome (DS) is the most common cause of mental retardation of genetic etiology with the prevalence rate of 1/700 to 1/1000 live births worldwide. Several polymorphisms in folate/homocysteine metabolism pathways genes have been reported as a risk factor in women for bearing DS child, but very few studies investigated these polymorphisms in DS cases whether there are a risk factor for being DS or not. Objective: We have investigated the association of methylenetetrahydrofolate reductase (MTHFR) with the occurrence of DS in Indian population. MTHFR is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine responsible for the reduction of methyltetrahydrofolate. A total of 32 DS cases and 64 age, sex matched controls were genotyped for MTHFR C677T polymorphism by polymerase chain reaction-restriction fragment length polymorphism. Results: The observed genotype frequencies were CC = 0.81; CT = 0.17 and TT = 0.02 in controls and CC = 0.81 and CT = 0.19 in DS cases. Frequency of T allele in DS and controls were 0.09 and 0.1, respectively. Significant difference in the distribution of mutant 677T allele was not observed between DS cases and controls (odds ratio = 0.915; 95% confidence intervals: 0.331-2.53; P = 0.864). Conclusion: Results of this study indicate that MTHFR C677T polymorphism is not risk factor for DS.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1051    
    Printed16    
    Emailed0    
    PDF Downloaded110    
    Comments [Add]    

Recommend this journal