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

ABSTRACT:

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 f

SUBMITTER: Rai V 

PROVIDER: S-EPMC4228564 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature