title: Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome.
abstract: Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH) gene (MTHFR) among mothers who have had babies with Down syndrome. This study examined the prevalence of the MTHFR C677T polymorphism among 104 north Indian mothers of babies with Down syndrome and 109 control mothers. The prevalence of MTHFR C677T polymorphism observed among mothers of babies with Down syndrome was 28% compared to 35% in controls (C677T/T677T). There was no significant difference between the two groups (p = 0.294). Mean homocysteine level in mothers of children with Down syndrome was lower than the level in the controls. Our data suggests that the MTHFR C677T polymorphism is not associated with an increased risk of Down syndrome in the north Indian population. Homocysteine levels in our study were higher when compared to other studies. Methylcobolamin and folate deficiency or use of random samples for homocysteine determination could possibly account for this observation.
authors.affiliation: Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Utkarsh
authors.initials: U
authors.lastname: Kohli
authors.forename: Sadhna
authors.initials: S
authors.lastname: Arora
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Lakshmy
authors.initials: L
authors.lastname: Ramakrishnan
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.forename: Ravindra Mohan
authors.initials: RM
authors.lastname: Pandey
mesh_terms: D000328:Adult; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D004032:Diet; D004314:Down Syndrome / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005492:Folic Acid; D005787:Gene Frequency; D006710:Homocysteine / Q000097:blood; D006801:Humans; D007194:India / Q000453:epidemiology; D007231:Infant, Newborn; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014815:Vitamins; D055815:Young Adult
chemical_list: D014815:Vitamins; D006710:Homocysteine; D004247:DNA; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)