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Abstract Objective:To investigate the relationship between MTHFR genes and its genes polymorphism and preterm delivery or folic acid metabolism of pregnant women in Lanzhou area. Methods: 298 neonates and their mothers were selected and divided into premature group and normal group according to whether had preterm labor. Relationship between three MTHFR gene polymorphisms and folic acid metabolism of women was analyzed by PCR. Results: The frequency of AC, AA and C, A allele in MTHFR (A1298C) gene of women in premature group were significantly higher than those of women in normal group (P<0.05). The frequency of GG, AA type and G, A allele of MTHFR (G1793A) gene of women in premature group were significantly higher than those of women in normal group (P<0.05). The frequency of AA+CA type and C, A allele of MTHFR (C2572A) gene women in premature group were significantly higher than those of women in normal group (P<0.05). The levels of folic acid and vitamin B12 in maternal peripheral blood of women with AC and CC genotypes were found to be significant lower than those of women with AA genotype (P<0.05). The levels of folic acid and vitamin B12 in maternal peripheral blood of women with GA, AA type of MTHFR (G1793A) gene were significant lower than those of women with GG genotype (P<0.05). The levels of folic acid and vitamin B12 in maternal peripheral blood of women with AA genotype were significant lower than those of women with GA genotype (P<0.05), but level of Hcy in maternal peripheral blood of women with AA genotype was significant higher than that of women with GA and GG genotype (P<0.05). The levels of folic acid and vitamin B12 of in maternal peripheral blood of women with AA+CA genotype of MTHFR (C2572A) gene were significant lower than those of women with CC genotype (P<0.05), while level of Hcy of women with AA+CA genotype was significant higher than that of women with CC genotype (P<0.05). AC+CC genotype frequency of MTHFR (A1298C) gene (OR=1.54, 95%CI=1.113.69, P=0.041), GA+AA genotype frequency of MTHFR (G1793A) gene (OR=1.94, 95%CI=1.335.11, P=0.028), gene A allele frequency of MTHFR (G1793A) (OR=1.77, 95%CI=1.134.03, P=0.039), and gene AA+CA frequency of MTHFR (C2572A) (OR=1.65, 95%CI=1.024.15, P=0.042) were the influenced factors of premature birth. Conclusion: MTHFR (A1298C), MTHFR (G1793A) and MTHFR (C2572A) gene polymorphisms are associated with the incidence of preterm birth and low folic acid level of pregnant women in Gansu province.
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