Polymorphisms in genes involved in folate metabolism as risk factors for oedematous severe childhood malnutrition : a hypothesis-generating study

Abstract Background: Severe childhood malnutrition (SCM) occurs as both oedematous and non-oedematous syndromes. The reasons why some children develop oedematous SCM (OSCM) have remained elusive but differences in clinical presentation among malnourished children from similar backgrounds suggests that there might be inter-individual variation in susceptibility to OSCM. Aim: To estimate the strength of the association between variants of three genes involved in folate/methyl group metabolism [methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and cystathionine β-synthase (CBS)] and risk of OSCM. Methods: Patients previously admitted to the Tropical Metabolism Research Unit (TMRU) for treatment of either OSCM (cases, n=74) or non-oedematous SCM (NOSCM, controls, n=50) were recruited. Genotypes at four sites within the three genes (MTHFR C677T, MTHFR A1298C, MTR A2756G and CBS 844ins68) were determined using PCR-based assays. Results: The MTHFR 677T [odds ratio (OR) 0.63, 95% CI 0.2–1.7] ...