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Researchers identify polymorphisms that influence homocysteine levels
By Bijal P. Trivedi

Hyperhomocysteinemia, a condition characterized by mild to moderate elevation of the sulphur amino acid homocysteine, is known to significantly raise the risk for coronary artery disease. Recently, researchers have found two polymorphisms in the cystathionine b-synthase (CBS) gene, an important enzyme in homocysteine metabolism, which appear to affect levels of the amino acid.

The current study measured homocysteine levels in 1058 individuals ranging from 21 to 82 years old, many of whom had been diagnosed with premature artery disease, and looked for associations with specific genetic variants of the CBS gene.

The Minnesota researchers focused on the 699C —> T and 1080C —> T polymorphisms, and found that the 699T and 1080T alleles of the CBS gene were both associated with significantly lower levels of homocysteine than 699C and 1080C.

The authors speculate that these polymorphisms may exert their effects by interacting with transcriptional elements to increase the quantity of CBS enzyme that is produced.

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Aras, . et al. Influence of 699C —> T and 1080C —> T polymorphisms of the cystathionine b-synthase gene on plasma homocysteine levels. Clin Genet 58, 455-459 (December 2000).

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