Objective: To investigate whether methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism is linked with coronary heart disease (CHD).
Methods: Transmission/disequilibrium test(TDT), sib transmission/disequilibrium test(STDT), and sibship disequilibrium test(SDT) were used. Forty-five CHD pedigrees with at least one CHD patient in the first degree relatives of probands were recruited from Oct. 1998 to Feb. 1999. Among those recruited were 21, 2 and 22 pedigrees with the genotypes of both parents known, one parental genotype unknown and both unknown, respectively. MTHFR genotype was measured by PCR-RFLP technique.
Results: Neither the TDT for 23 nuclear families with at least one parental genotype known or the STDT and SDT for 40 sibships found significant difference between the transmitted and untransmitted MTHFR gene 677T allele distributions.
Conclusion: The above results suggest that MTHFR gene 677T allele is probably not linked with CHD in Chinese population.