Elevated concentrations of the amino acid homocysteine and/or folate defici
ency have been reported to affect neural development/function in both human
patients and animal models. We have investigated the distribution of funct
ional polymorphisms in genes involved in homocysteine/folate metabolism in
children with high IQ and in children with average IQ. No differences in th
e frequencies of genetic variants in the methionine synthase or methylenete
trahydrofolate reductase genes were found. However, the cystathionine beta-
synthase (CBS) 844ins68 allele was significantly underrepresented in childr
en with high IQ. The mechanism by which a functional genetic variant in the
CBS gene may influence cognitive function remains to be determined. NeuroR
eport 11:1133-1136 (C) 2000 Lippincott Williams & Wilkins.