Zhanqi Feng, Yue Gao, Mengting Zhang, Yaoping Wang, Xiuming Liu, Bo Zhang, Junxiang Su, Hongdan Wang
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Sanger sequencing and Chemiluminescence Microparticle Immuno Assay (CMIA) are used for detecting the mutations of MTHFR and MTRR and the 5 serum molecular serum levels.</p><p><strong>Results: </strong>In the female group, MTHFR 677 C > T is associated with Recurrent spontaneous abortion (RSA) (P = 0.0017), Chromosomal abnormality (CA) (P = 0.0053), Cleft lip and palate (CLP) (P = 0.0326) and Brain dysplasia (BD) (P = 0.0072); MTHFR 1298 A > C is associated with Infertility (P = 0.0026) and BD (P = 0.0382); MTRR 66 A > G is associated with CLP (P = 0.0131). In the male group, MTHFR 677 C > T is associated with RSA (P = 0.0003), Infertility (P = 0.0013), CA (P = 0.0027) and BD (P = 0.0293). In the female group, the genotype of MTHFR 677 C > T is associated with RSA (P = 0.0017), CA (P = 0.0014) and BD (P = 0.0021); MTHFR 1298 A > C is associated with Infertility (P = 0.0081) and MTRR 66 A > G is associated with Infertility (P = 0.0309). In the male group, the genotype of MTHFR 677 C > T is associated with RSA (P = 0.0008), Infertility (P = 0.0096) and CA (P = 0.0165) and MTRR 66 A > G is associated with Infertility (P = 0.0158) and congenital heart disease (CHD) (P = 0.0218). In the male group, there is statistically significant difference of the serum Homocysteine (Hcy) levels (P < 0.0001) between adverse pregnancy group and controls. In the female group, there is statistically significant difference of the serum vitamin D levels (P = 0.0015) between adverse pregnancy group and controls.</p><p><strong>Conclusions: </strong>Polymorphic variants in MTHFR and MTRR, serum Folic acid (FA), Hcy and B12 levels in the male group and vitamin D levels in the female group are associated differentially with adverse pregnancy.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":null,"pages":null},"PeriodicalIF":2.6000,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms and five related serum molecular levels in 2587 patients: Associated differentially with adverse pregnancy.\",\"authors\":\"Zhanqi Feng, Yue Gao, Mengting Zhang, Yaoping Wang, Xiuming Liu, Bo Zhang, Junxiang Su, Hongdan Wang\",\"doi\":\"10.1007/s11033-024-09948-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>The aim of the study is to investigate the relationship between Methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) polymorphisms, 5 serum related molecular levels and the risk of adverse pregnancies in different genders.</p><p><strong>Methods: </strong>Patients aged from 22 to 38 with a history of adverse pregnancy treated in our genetic eugenics clinic of Henan Provincial People's Hospital are selected. The controls aged from 20 to 34 undergoing eugenics examinations in our genetic eugenics clinic that had no history of adverse pregnancy and at least one healthy child are selected. Sanger sequencing and Chemiluminescence Microparticle Immuno Assay (CMIA) are used for detecting the mutations of MTHFR and MTRR and the 5 serum molecular serum levels.</p><p><strong>Results: </strong>In the female group, MTHFR 677 C > T is associated with Recurrent spontaneous abortion (RSA) (P = 0.0017), Chromosomal abnormality (CA) (P = 0.0053), Cleft lip and palate (CLP) (P = 0.0326) and Brain dysplasia (BD) (P = 0.0072); MTHFR 1298 A > C is associated with Infertility (P = 0.0026) and BD (P = 0.0382); MTRR 66 A > G is associated with CLP (P = 0.0131). In the male group, MTHFR 677 C > T is associated with RSA (P = 0.0003), Infertility (P = 0.0013), CA (P = 0.0027) and BD (P = 0.0293). In the female group, the genotype of MTHFR 677 C > T is associated with RSA (P = 0.0017), CA (P = 0.0014) and BD (P = 0.0021); MTHFR 1298 A > C is associated with Infertility (P = 0.0081) and MTRR 66 A > G is associated with Infertility (P = 0.0309). In the male group, the genotype of MTHFR 677 C > T is associated with RSA (P = 0.0008), Infertility (P = 0.0096) and CA (P = 0.0165) and MTRR 66 A > G is associated with Infertility (P = 0.0158) and congenital heart disease (CHD) (P = 0.0218). In the male group, there is statistically significant difference of the serum Homocysteine (Hcy) levels (P < 0.0001) between adverse pregnancy group and controls. In the female group, there is statistically significant difference of the serum vitamin D levels (P = 0.0015) between adverse pregnancy group and controls.</p><p><strong>Conclusions: </strong>Polymorphic variants in MTHFR and MTRR, serum Folic acid (FA), Hcy and B12 levels in the male group and vitamin D levels in the female group are associated differentially with adverse pregnancy.</p>\",\"PeriodicalId\":18755,\"journal\":{\"name\":\"Molecular Biology Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-09-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Biology Reports\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1007/s11033-024-09948-x\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Biology Reports","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s11033-024-09948-x","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
研究背景本研究旨在探讨亚甲基四氢叶酸还原酶(MTHFR)、蛋氨酸合成酶还原酶(MTRR)多态性、5种血清相关分子水平与不同性别不良妊娠风险之间的关系:方法:选取河南省人民医院遗传优生门诊22-38岁有不良妊娠史的患者为研究对象。方法:选取在河南省人民医院优生遗传门诊接受优生检查的 22-38 岁有不良妊娠史的患者,以及 20-34 岁无不良妊娠史且至少有一个健康孩子的对照组。采用桑格测序法和化学发光微粒子免疫测定法(CMIA)检测 MTHFR 和 MTRR 的突变及 5 种血清分子水平:在女性组中,MTHFR 677 C > T 与复发性自然流产(RSA)(P = 0.0017)、染色体异常(CA)(P = 0.0053)、唇腭裂(CLP)(P = 0.0326)和脑发育不良(BD)(P = 0.0072);MTHFR 1298 A > C 与不育(P = 0.0026)和 BD(P = 0.0382)相关;MTRR 66 A > G 与 CLP(P = 0.0131)相关。在男性组中,MTHFR 677 C > T 与 RSA(P = 0.0003)、不育(P = 0.0013)、CA(P = 0.0027)和 BD(P = 0.0293)相关。在女性组中,MTHFR 677 C > T 基因型与 RSA(P = 0.0017)、CA(P = 0.0014)和 BD(P = 0.0021)相关;MTHFR 1298 A > C 基因型与不孕症(P = 0.0081)相关;MTRR 66 A > G 基因型与不孕症(P = 0.0309)相关。在男性组中,MTHFR 677 C > T 基因型与 RSA(P = 0.0008)、不孕症(P = 0.0096)和 CA(P = 0.0165)相关,MTRR 66 A > G 基因型与不孕症(P = 0.0158)和先天性心脏病(CHD)(P = 0.0218)相关。在男性组中,血清同型半胱氨酸(Hcy)水平的差异有统计学意义(P 结论:MTRR 66 A > G 与不孕症(P = 0.0158)和先天性心脏病(CHD)(P = 0.0218)有关:男性组的 MTHFR 和 MTRR 多态变异、血清叶酸 (FA)、Hcy 和 B12 水平以及女性组的维生素 D 水平与不良妊娠有不同程度的相关性。
Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms and five related serum molecular levels in 2587 patients: Associated differentially with adverse pregnancy.
Background: The aim of the study is to investigate the relationship between Methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) polymorphisms, 5 serum related molecular levels and the risk of adverse pregnancies in different genders.
Methods: Patients aged from 22 to 38 with a history of adverse pregnancy treated in our genetic eugenics clinic of Henan Provincial People's Hospital are selected. The controls aged from 20 to 34 undergoing eugenics examinations in our genetic eugenics clinic that had no history of adverse pregnancy and at least one healthy child are selected. Sanger sequencing and Chemiluminescence Microparticle Immuno Assay (CMIA) are used for detecting the mutations of MTHFR and MTRR and the 5 serum molecular serum levels.
Results: In the female group, MTHFR 677 C > T is associated with Recurrent spontaneous abortion (RSA) (P = 0.0017), Chromosomal abnormality (CA) (P = 0.0053), Cleft lip and palate (CLP) (P = 0.0326) and Brain dysplasia (BD) (P = 0.0072); MTHFR 1298 A > C is associated with Infertility (P = 0.0026) and BD (P = 0.0382); MTRR 66 A > G is associated with CLP (P = 0.0131). In the male group, MTHFR 677 C > T is associated with RSA (P = 0.0003), Infertility (P = 0.0013), CA (P = 0.0027) and BD (P = 0.0293). In the female group, the genotype of MTHFR 677 C > T is associated with RSA (P = 0.0017), CA (P = 0.0014) and BD (P = 0.0021); MTHFR 1298 A > C is associated with Infertility (P = 0.0081) and MTRR 66 A > G is associated with Infertility (P = 0.0309). In the male group, the genotype of MTHFR 677 C > T is associated with RSA (P = 0.0008), Infertility (P = 0.0096) and CA (P = 0.0165) and MTRR 66 A > G is associated with Infertility (P = 0.0158) and congenital heart disease (CHD) (P = 0.0218). In the male group, there is statistically significant difference of the serum Homocysteine (Hcy) levels (P < 0.0001) between adverse pregnancy group and controls. In the female group, there is statistically significant difference of the serum vitamin D levels (P = 0.0015) between adverse pregnancy group and controls.
Conclusions: Polymorphic variants in MTHFR and MTRR, serum Folic acid (FA), Hcy and B12 levels in the male group and vitamin D levels in the female group are associated differentially with adverse pregnancy.
期刊介绍:
Molecular Biology Reports publishes original research papers and review articles that demonstrate novel molecular and cellular findings in both eukaryotes (animals, plants, algae, funghi) and prokaryotes (bacteria and archaea).The journal publishes results of both fundamental and translational research as well as new techniques that advance experimental progress in the field and presents original research papers, short communications and (mini-) reviews.