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Article

MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers.

Journal of human genetics - 1 Jan 2006

Rai Amit Kumar, Singh Satya, Mehta Stuti, Kumar Ashok, Pandey L K, Raman Rajiva

Abstract excerpt

Down's syndrome (DS), a chromosomal disorder due to trisomy 21, results mostly from nondisjunction in maternal meiosis. The present case-control study examined the association of genetic polymorphisms with predisposition to nondisjunction. Two common polymorphisms (SNPs), C677T and A1298C, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism, are known to lower the activity...

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Identifiers

PMID: 16489479
DOI: 10.1007/s10038-005-0356-3

Genes

MTHFR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers.PMID 16489479Read ↗

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