育龄女性叶酸代谢酶基因型与血清同型半胱氨酸水平和新生儿出生缺陷的相关性  

Correlations among folate metabolism enzyme genotype and serum homocysteine level and neonatal birth defects in women of childbearing age

作　　者：王勤 陈艳鸿 WANG Qin;CHEN Yanhong(Department of Obstetrics of Kaifeng Obstetrics and Gynecology Hospital,Kaifeng 475000 Henan,China)

机构地区：[1]开封市妇产医院产科,河南开封475000

出　　处：《中国民康医学》2023年第19期147-150,共4页Medical Journal of Chinese People’s Health

摘　　要：目的:分析育龄女性叶酸代谢相关酶MTHFR、MTRR的基因型与血清同型半胱氨酸(HCY)水平、新生儿出生缺陷的相关性。方法:选取2020年4月至2022年1月在该院接受围产保健的138名育龄女性为研究对象,统计其叶酸代谢相关酶MTHFR A1298C、MTRR A66G、MTHFR C667T的基因型分布,将3个位点均为高危型者设为高危组(n=70),其余为低危组(n=68)。比较不同基因分型育龄女性血清HCY水平。比较高危组、低危组育龄女性妊娠后新生儿出生缺陷发生率。分析不同基因分型女性妊娠后新生儿出生缺陷的相对危险度(RR)。结果:育龄女性叶酸代谢相关酶MTHFR A1298C的基因分型包括A/A、A/C、C/C,其中A/A分型较多,占51.45%(71/138);MTHFR C667T的基因分型包括T/T、C/T、C/C,其中T/T分型较多,占55.07%(76/138);MTRR A66G基因分型包括A/A、G/G、A/G,其中A/G分型较多,占56.52%(78/138)。高危型育龄女性血清HCY水平均高于其他分型,差异有统计学意义(P<0.05)。高危组新生儿出生缺陷发生率为7.14%(5/70),略高于低危组的2.94%(2/68),但组间比较差异无统计学意义(P>0.05)。MTHFR A1298C基因中A/A分型、MTHFR C667T基因中T/T分型、MTRR A66G基因中A/A分型育龄女性分娩新生儿出现出生缺陷的RR值分别为2.393、4.895、1.026。结论:育龄期健康育龄女性叶酸代谢酶基因型分布存在多样性,其中MTHFR A1298C基因中A/A分型、MTHFR C667T基因中T/T分型、MTRR A66G基因中A/A分型等高危型占比较高,其血清HCY水平高于其他分型,且MTHFR A1298C基因中A/A分型、MTHFR C667T基因中T/T分型育龄女性分娩的新生儿发生出生缺陷的危险度较高。Objective:To analyze correlations among folate metabolism enzyme MTHFR and MTRR genotypes and serum homocysteine(HCY)level and neonatal birth defects in women of childbearing age.Methods:138 women of childbearing age who received perinatal health care in the hospital from April 2020 to January 2022 were selected as the research objects.The distributions of folate metabolism enzyme MTHFR A1298 C,MTRR A66G and MTHFR C667T genotypes were statistically analyzed.The subjects with high-risk type at all three sites were set as highrisk group(n=70),and the rest were set as low-risk group(n=68).The serum HCY levels of the women of childbearing age with different genotypes were compared.The incidence of birth defects in the high-risk group and the low-risk group after delivery were compared.The relative risk(RR)of neonatal birth defects in the women with different genotypes was analyzed.Results:The MTHFR A1298C genotyping of the women of childbearing age included A/A,A/C and C/C,among which A/A was more,accounting for 51.45%(71/138);the MTHFR C667T genotyping included T/T,C/T and C/C,among which,T/T was more,accounting for 55.07%(76/138);MTRR A66G genotyping included A/A,G/G,and A/G,of which,A/G was more common,accounting for 56.52%(78/138).The serum HCY level of the high-risk women of childbearing age was higher than that of other types,and the difference was statistically significant(P<0.05).The incidence of birth defects in the high-risk group was 7.14%(5/70),which was slightly higher than 2.94%(2/68)in the low-risk group,but there was no significant difference between the two groups(P>0.05).The RR values of neonatal birth defects in the women of childbearing age with A/A genotype in MTHFR A1298C gene,T/T genotype in MTHFR C667T gene and A/A genotype in MTRR A66G gene were 2.393,4.895 and 1.026,separately.Conclusions:The distribution of folate metabolism enzyme genotypes in the healthy women of childbearing age is diverse.Among them,MTHFR A1298C gene A/A type,MTHFR C667T gene T/T type,MTRR A66G gene A/A type and other h

关 键 词：育龄女性 同型半胱氨酸 叶酸 基因型 基因多态性 出生缺陷 

分 类 号：R715[医药卫生—妇产科学]