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[Study on the relationship between methylenetetrahydrofolate reductase gene C677T mutation and coronary heart
1Department of Population Genetics and Prevention, Fuwai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 P. R. China. gudf@yahoo.com
Insights
The methylenetetrahydrofolate reductase (MTHFR) gene 677T allele is likely not associated with coronary heart disease (CHD). This genetic variant was not found to be linked to CHD in the Chinese population studied.
Area of Science:
- Genetics
- Cardiovascular Disease Research
- Molecular Biology
Context:
- Coronary heart disease (CHD) is a significant global health concern.
- Genetic factors play a role in CHD susceptibility.
- The methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism is a candidate genetic marker for various diseases.
Purpose:
- To determine if the MTHFR gene C677T polymorphism is associated with coronary heart disease (CHD).
- To investigate the genetic linkage between MTHFR C677T and CHD in a Chinese population.
Summary:
- This study utilized transmission/disequilibrium tests (TDT, STDT, SDT) on 45 Chinese CHD pedigrees.
- MTHFR genotypes were determined using PCR-RFLP.
- No significant association was found between the MTHFR 677T allele and CHD.
Impact:
- Suggests that the MTHFR 677T allele is probably not a risk factor for CHD in the Chinese population.
- Contributes to understanding the genetic basis of CHD.
- Informs future genetic association studies for CHD.
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.