| Objective:To investigate the relationship between MTHFR gene polymorphism and Genomic DNA methylation and the influence they may have on the susceptibility to cerebral infarction, and analyze the difference between distributions of MTHFR gene polymorphism in Korean-Chinese and Han nationality.Methods:We explored the method of case-control study. The case group was made up of 168 patients with cerebral infarction and the control group was made up of 170 healthy individuals. First we extracted genomic DNA with the whole blood genomic DNA extraction’kit’. Half of the genomic DNA was used for the detection of genomic DNA methylation level; the other section was used to detecting the genotype of MTHFR gene at C677T、A1298C loci through the method of Polymerase Chain Reaction- Restriction Fragment Length Polymorphism.Results:1.The comparsion of general information between case group and control group:The difference of age, gender, ethnicity and Vit B12 between the two group had no statistic difference (P>0.05).In the case group the frequency of hypertension diabetes andl ipid metabolism disorder was much higher than that in the control group,the difference is significant (P<0.05).The level of folic acid in case group is much lower than that in the control group,thedifference is significant (P<0.05).2.The genomic DNA methylation of the case group was 4.78±0.921%, lower than the control group 5.27±0.915%.The difference was significantcompared between the two groups (P<0.05).3.C677T genotype detection:In the case group the precentage of CT genotype was 49.4%, TT genotype was 17.9%, higher than that in the control group 35.9%,16.5%.The difference was significant (P<0.05).4.A1298C genotype detection:In the case group the precentage of AC genotype was 69.6%, CC genotype was3.6%, higher than that in the control group 59.4%,1.2%.The difference was significant (P<0.05).5.In the case group the genomic DNA methylation levels associated to CC、CT、TT three genotypes of C677T loci were 5.23±0.91%,4.68±0.79%,4.23±0.91%, the difference between the three group of genomic DNA methylation was significant (P<0.05). In the control group the DNA methylation levels associated to CC, CT, TT three genotype of C677T loci were 5.61±0.83%,5.09±0.88%,4.64±0.79%,compared between the three group the difference was significant(P<0.05). The level of genomic DNA methylation was significantly different between the three genotypes of the case group and the control group.6.1n the case group the genomic DNA methylation levels associated to AA, AC, CC three genotypes of A1298C loci were 4.77±0.99%,4.79±0.91%,4.65±0.92%, the comparison of difference between the three group had no statistical significance (P>0.05). In the control group the DNA methylation levels associated to AA、AC、CC three genotypes of A 1298C loci were 5.25±0.98%、5.27±0.88%、5.12±0.33%, The comparison of difference between the three groups had no statistical significance (P>0.05).The difference between the levels of genomic DNA methylation which associated with the three genotypes of both the case group and the control group had no significantly significance (P>0.05).7. The ethnic difference of MTHFR genotype distribution in the case group:The distribution of CC、CT、TT genotype of C677T loci in Korean-Chinese was 36.1%,54.2%,9.7%, comparied to that in the Han ethnic30.2%.45.8%、24.0%, the difference between Korean-Chinese and Han ethnic has no statistical difference. The distribution of AA、AC、CC genotype of A1298C loci in Korean-Chinese was 29.2%^ 68.1%、2.8%, comparied to that in the Han ethnic25、70.8%、4.2%, the difference between Korean-Chinese and Han ethnic has no statistical difference.8.The ethnic difference of MTHFR genotype distribution in the control group:The distribution of CC、CT、TT genotype of C677T loci in Korean-Chinese was34.7%、 52.%、13.3%,comparied to that in the Han ethnic36.8%、44.2%、18.9%,the difference between Korean-Chinese and Han ethnic has no statistical difference. The distribution of AA、AC、CC genotype of A1298C loci in Korean-Chinese was 27.8%、68.1%、0%, comparied to that in the Han ethnic 31.3%、61.5%、7.3%,the difference between Korean-Chinese and Han ethnic has no statistical difference.9. The ethnic difference of MTHFR genotype distribution in the global case:The distribution of CC、CT、TT genotype of C677T loci in Korean-Chinese was35.4%、 53.1%、11.6%, comparied to that in the Han ethnic33.5%,450% 21.5%,the difference between Korean-Chinese and Han ethnic has no statistical difference. The distribution of AA、AC、CC genotype of A1298C loci in Korean-Chinese was 34.0%、64%、1.4%, comparied to that in the Han ethnic 32.5%、64.4%、3.1%, the difference between Korean-Chinese and Han ethnic has no statistical difference.Conclusion:1. The hypomethylation of genomic DNA may increase the susceptibility to cerebral infarction.2. The mononucleotide polymorphism of C677T and A1298C is associated with the onset of cerebral infarction to some degree.3. The mononucleotide polymorphism of C677T loci may influence the level of genomic DNA methylation to some extent.4. The mononucleotide polymorphism of A1298C loci has no influence on the level of genomic DNA methylation.5. The distribution of C677T and A1298C genotype of MTHFR gene has no difference brtween Korean-Chinese and Han ethnic... |
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