Several studies have shown an association between homocysteine concentration and cognitive performance or cerebral white matter lesions. However, variations in genes encoding for enzymes and other proteins that play a role in homocysteine metabolism have hardly been evaluated in relation to these outcome measures. In the population-based Rotterdam Scan Study, we examined the association of seven polymorphisms of genes involved in homocysteine metabolism (MTHFR 677C>T, MTHFR 1298A>C, RFC 80G>A, TC 776C > G, MTR 2756A > G, MTRR 66A > G, and CBS 844ins68) with plasma total homocysteine, cognitive performance, and cerebral white matter lesions among 1011 non-demented elderly participants. Of all the studied polymorphisms, only MTHFR 677C > T was associated with homocysteine concentration. No significant relationship was observed for any of the polymorphisms with cognitive performance or severity of cerebral white matter lesions.

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Keywords Cognition, Homocysteine, SNP, White matter lesions
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Journal Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology
de Lau, L, van Meurs, J.B.J, Uitterlinden, A.G, Smith, A.D, Refsum, H, Johnston, C, & Breteler, M.M.B. (2010). Genetic variation in homocysteine metabolism, cognition, and white matter lesions. Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, 31(11), 2020–2022. doi:10.1016/j.neurobiolaging.2008.10.004