Polymorphism of MTHFR and MTRR among Han Women in Sichuan_Chinese Journal of Evidence-Based Medicine

Authors：

1. Deyang Maternal and Child Health Hospital, Deyang 618000, China;2. Shanghai Biochip National Engineering Research Center, Shanghai 201203, China;3. Gene and Health Committee, Sichuan Healthcare Science Technology Society, Chengdu 610041, China;

Corresponding author：

Keywords：

Neural tube defects; Folic acid; Methylenetetrahydrofolate reductase (MTHFR); Methionine synthase reductase (MTRR); Polymorphism

DOI：

10.7507/1672-2531.20120103

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Abstract Full text Figures/Tables Video References Cited by

Objective To determine the genotype distribution of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G involved in the folic acid biosynthetic pathway among Chinese Han women in Sichuan, so as to provide pregnant women with guidance of supplementing folic acid.
Methods By means of Taqman-MGB, 2382 samples from Deyang region in Sichuan province were tested for detecting the genotype distributions and allele frequencies of MTHFR C677T, MTHFR A1298C and MTRR A66G polymorphisms, and then the results were compared with published data in Shandong, Henan and Hainan provinces.
Results The allele frequencies of MTHFR C677T were 63.45 and 36.55, those of MTHFR A1298C were 78.20 and 21.80, and those of MTRR A66G were 72.81 and 27.19. There were significant differences in allele distribution of MTHFR C677T and A1298C between Sichuan Han women and other region population.
Conclusion This study suggests that the polymorphism of MTHFR C677T and A1298C exhibits region heterogeneity. The polymorphisms of MTHFR may play a role in neural tube defects (NTDs) risk, so periconceptional folic acid supplementation and healthcare following gene polymorphism testing may be a powerful measure to decrease congenital malformations of the central nervous system.

Citation： ZHANG Yong,ZHU Zhengying,WANG Wei,LIU Ling,BI Jia,WANG Daocheng,XIAO Zili,ZHANG Shuya,JIANG Juncheng,ZHANG Yalin. Polymorphism of MTHFR and MTRR among Han Women in Sichuan. Chinese Journal of Evidence-Based Medicine, 2012, 12(6): 631-634. doi: 10.7507/1672-2531.20120103 Copy

1.	Xiao KZ, Zhang ZY, Su YM, et al. Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program. Int J Epidemiol, 1990, 19(4): 978-82.
2.	Wang Y, Zhu J, Wu Y. Dynamic variation of incidence of neural tube defects during 1988 to 1992 in China. Zhonghua Yu Fang Yi Xue Za Zhi, 1998, 32(6): 369-371.
3.	Dai L, Zhu J, Zhou G, et al. Dynamic monitoring of neural tube defects in China during 1996 to 2000. Zhonghua Yu Fang Yi Xue Za Zhi, 2002, 36(6): 402-405.
4.	Williams JR. Folic Acid Metabolism of Human Marrow Cells. Scand J Haematol, 1965, 2: 155-166.
5.	Eskes TK. Open or closed? A world of difference: a history of homocysteine research. Nutr Rev, 1998, 56(8): 236-244.
6.	Gaughan DJ, Kluijtmans LA, Barbaux S, et al. The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis, 2001, 157(2): 451-456.
7.	Lichtenstein MJ, Mulrow CD, Elwood PC. Guidelines for reading case-control studies. J Chronic Dis, 1987, 40(9): 893-903.
8.	贺宪民, 张群, 杨琦, 等. 亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性研究. 中国计划生育学杂志, 2010, 172(1): 13-18.
9.	Ramsbottom D, Scott JM, Molloy A, et al. Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? Clin Genet, 1997, 51(1): 39-42.
10.	Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr, 2000, 30(10): 313-332.
11.	Kapur B, Soldin OP, Koren G. Potential prevention of neural tube defects by assessment of women of childbearing age through monitoring of folate. Ther Drug Monit, 2002, 24(5): 628-630.
12.	Stone DH, McCarron P, Smith GD. Similarities in the epidemiology of neural tube defects and coronary heart disease: is homocysteine the missing link? J Epidemiol Community Health, 1999, 53(12): 789-793.
13.	Berry RJ, Li Z, Erickson JD, et al. Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med, 1999, 341(20): 1485-1490.
14.	Baggott JE, Vaughn WH, Juliana MM, et al. Effects of folate deficiency and supplementation on methylnitrosourea-induced rat mammary tumors. J Natl Cancer Inst, 1992, 84(22): 1740-1744.
15.	Golbahar J, Fathi Z, Tamadon M. Distribution of 5,10-methylenetetrahydrofolate reductase (C667T) polymorphism and its association with red blood cell 5-methyltetrahydrofolate in the healthy Iranians. Clin Nutr, 2005, 24(1): 83-87.

1. Xiao KZ, Zhang ZY, Su YM, et al. Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program. Int J Epidemiol, 1990, 19(4): 978-82.
2. Wang Y, Zhu J, Wu Y. Dynamic variation of incidence of neural tube defects during 1988 to 1992 in China. Zhonghua Yu Fang Yi Xue Za Zhi, 1998, 32(6): 369-371.
3. Dai L, Zhu J, Zhou G, et al. Dynamic monitoring of neural tube defects in China during 1996 to 2000. Zhonghua Yu Fang Yi Xue Za Zhi, 2002, 36(6): 402-405.
4. Williams JR. Folic Acid Metabolism of Human Marrow Cells. Scand J Haematol, 1965, 2: 155-166.
5. Eskes TK. Open or closed? A world of difference: a history of homocysteine research. Nutr Rev, 1998, 56(8): 236-244.
6. Gaughan DJ, Kluijtmans LA, Barbaux S, et al. The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis, 2001, 157(2): 451-456.
7. Lichtenstein MJ, Mulrow CD, Elwood PC. Guidelines for reading case-control studies. J Chronic Dis, 1987, 40(9): 893-903.
8. 贺宪民, 张群, 杨琦, 等. 亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性研究. 中国计划生育学杂志, 2010, 172(1): 13-18.
9. Ramsbottom D, Scott JM, Molloy A, et al. Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? Clin Genet, 1997, 51(1): 39-42.
10. Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr, 2000, 30(10): 313-332.
11. Kapur B, Soldin OP, Koren G. Potential prevention of neural tube defects by assessment of women of childbearing age through monitoring of folate. Ther Drug Monit, 2002, 24(5): 628-630.
12. Stone DH, McCarron P, Smith GD. Similarities in the epidemiology of neural tube defects and coronary heart disease: is homocysteine the missing link? J Epidemiol Community Health, 1999, 53(12): 789-793.
13. Berry RJ, Li Z, Erickson JD, et al. Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med, 1999, 341(20): 1485-1490.
14. Baggott JE, Vaughn WH, Juliana MM, et al. Effects of folate deficiency and supplementation on methylnitrosourea-induced rat mammary tumors. J Natl Cancer Inst, 1992, 84(22): 1740-1744.
15. Golbahar J, Fathi Z, Tamadon M. Distribution of 5,10-methylenetetrahydrofolate reductase (C667T) polymorphism and its association with red blood cell 5-methyltetrahydrofolate in the healthy Iranians. Clin Nutr, 2005, 24(1): 83-87.

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