Yu. N. Reshetnikova, I. Ponomarenko, V. Churnosov, M. Ponomarenko, M. Churnosov, E. A. Reshetnikov
{"title":"MTRR 基因 rs1801394 多态性与胎儿发育迟缓孕妇的新生儿出生体重有关","authors":"Yu. N. Reshetnikova, I. Ponomarenko, V. Churnosov, M. Ponomarenko, M. Churnosov, E. A. Reshetnikov","doi":"10.17749/2313-7347/ob.gyn.rep.2024.466","DOIUrl":null,"url":null,"abstract":"Aim: to assess associations between folate cycle gene polymorphism and neonatal birth weight in pregnant women with fetal growth retardation (FGR) and related functional effects in population of the Central Black Earth Region.Materials and Methods. 98 cases of women with FGR were enrolled to a retrospective molecular and genetic screening to assess prevalence 5 SNPs (single nucleotide polymorphisms) in genes involved in folic acid cycle and methionine metabolism (rs699517 TYMS, rs2790 TYMS, rs1979277 SHMT1, rs1805087 MTR, rs1801394 MTRR).Results. It was found out that allele A of the rs1801394 MTRR was associated with a lower neonatal birth weight (recessive model: β = –0.34 ± 0.13; p = 0.009). This polymorphic locus exerts crucial functional effects by determining the amino acid substitution in methionine synthase reductase (Ile22Met) localized in the region of modified histones, which mark enhancers and promoters in ectoderm, endoderm and mesoderm cell cultures, primary osteoblast cells, brain, fat nuclei, skeletal muscles, etc. In addition, rs1801394 MTRR is found DNA sites (motifs) responsible for sensitivity to transcription factors STAT and TBX5 being also related to MTRR gene mRNA expression level in subcutaneous and visceral adipose tissue, thyroid gland, fibroblast cell culture as well as various brain regions.Conclusion. Thus, the allele A of the rs1801394 polymorphism in MTRR gene is a risk factor for a lower neonatal birth weight.","PeriodicalId":36521,"journal":{"name":"Obstetrics, Gynecology and Reproduction","volume":" 5","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"MTRR gene rs1801394 polymorphism is associated with neonatal birth weight in pregnant women with fetal growth retardation\",\"authors\":\"Yu. N. Reshetnikova, I. Ponomarenko, V. Churnosov, M. Ponomarenko, M. Churnosov, E. A. Reshetnikov\",\"doi\":\"10.17749/2313-7347/ob.gyn.rep.2024.466\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Aim: to assess associations between folate cycle gene polymorphism and neonatal birth weight in pregnant women with fetal growth retardation (FGR) and related functional effects in population of the Central Black Earth Region.Materials and Methods. 98 cases of women with FGR were enrolled to a retrospective molecular and genetic screening to assess prevalence 5 SNPs (single nucleotide polymorphisms) in genes involved in folic acid cycle and methionine metabolism (rs699517 TYMS, rs2790 TYMS, rs1979277 SHMT1, rs1805087 MTR, rs1801394 MTRR).Results. It was found out that allele A of the rs1801394 MTRR was associated with a lower neonatal birth weight (recessive model: β = –0.34 ± 0.13; p = 0.009). This polymorphic locus exerts crucial functional effects by determining the amino acid substitution in methionine synthase reductase (Ile22Met) localized in the region of modified histones, which mark enhancers and promoters in ectoderm, endoderm and mesoderm cell cultures, primary osteoblast cells, brain, fat nuclei, skeletal muscles, etc. In addition, rs1801394 MTRR is found DNA sites (motifs) responsible for sensitivity to transcription factors STAT and TBX5 being also related to MTRR gene mRNA expression level in subcutaneous and visceral adipose tissue, thyroid gland, fibroblast cell culture as well as various brain regions.Conclusion. Thus, the allele A of the rs1801394 polymorphism in MTRR gene is a risk factor for a lower neonatal birth weight.\",\"PeriodicalId\":36521,\"journal\":{\"name\":\"Obstetrics, Gynecology and Reproduction\",\"volume\":\" 5\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Obstetrics, Gynecology and Reproduction\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17749/2313-7347/ob.gyn.rep.2024.466\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetrics, Gynecology and Reproduction","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17749/2313-7347/ob.gyn.rep.2024.466","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
目的:评估叶酸循环基因多态性与胎儿发育迟缓(FGR)孕妇新生儿出生体重之间的关系,以及黑土中部地区人群的相关功能影响。对 98 例 FGR 孕妇进行回顾性分子和遗传学筛查,以评估叶酸循环和蛋氨酸代谢相关基因(rs699517 TYMS、rs2790 TYMS、rs1979277 SHMT1、rs1805087 MTR、rs1801394 MTRR)中 5 个 SNPs(单核苷酸多态性)的发生率。结果发现,rs1801394 MTRR 的等位基因 A 与新生儿出生体重较低有关(隐性模型:β = -0.34 ± 0.13; p = 0.009)。该多态性位点通过决定位于修饰组蛋白区域的蛋氨酸合成酶还原酶(Ile22Met)的氨基酸替代而产生重要的功能影响,修饰组蛋白在外胚层、内胚层和中胚层细胞培养物、原始成骨细胞、大脑、脂肪核、骨骼肌等中标记增强子和启动子。此外,在皮下和内脏脂肪组织、甲状腺、成纤维细胞培养以及不同脑区中,发现了负责对转录因子 STAT 和 TBX5 敏感的 DNA 位点(motifs),这也与 MTRR 基因 mRNA 的表达水平有关。因此,MTRR 基因 rs1801394 多态性的等位基因 A 是新生儿出生体重较低的风险因素。
MTRR gene rs1801394 polymorphism is associated with neonatal birth weight in pregnant women with fetal growth retardation
Aim: to assess associations between folate cycle gene polymorphism and neonatal birth weight in pregnant women with fetal growth retardation (FGR) and related functional effects in population of the Central Black Earth Region.Materials and Methods. 98 cases of women with FGR were enrolled to a retrospective molecular and genetic screening to assess prevalence 5 SNPs (single nucleotide polymorphisms) in genes involved in folic acid cycle and methionine metabolism (rs699517 TYMS, rs2790 TYMS, rs1979277 SHMT1, rs1805087 MTR, rs1801394 MTRR).Results. It was found out that allele A of the rs1801394 MTRR was associated with a lower neonatal birth weight (recessive model: β = –0.34 ± 0.13; p = 0.009). This polymorphic locus exerts crucial functional effects by determining the amino acid substitution in methionine synthase reductase (Ile22Met) localized in the region of modified histones, which mark enhancers and promoters in ectoderm, endoderm and mesoderm cell cultures, primary osteoblast cells, brain, fat nuclei, skeletal muscles, etc. In addition, rs1801394 MTRR is found DNA sites (motifs) responsible for sensitivity to transcription factors STAT and TBX5 being also related to MTRR gene mRNA expression level in subcutaneous and visceral adipose tissue, thyroid gland, fibroblast cell culture as well as various brain regions.Conclusion. Thus, the allele A of the rs1801394 polymorphism in MTRR gene is a risk factor for a lower neonatal birth weight.