Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses
Background: The genetic etiology of fetal chromosome abnormalities remains unknown, which brings about an enormous burden for patients, families, and society. The spindle assembly checkpoint (SAC) controls the normal procedure of chromosome disjunction and may take part in the process.Objective: The...
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1105184/full |
| _version_ | 1797869581240369152 |
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| author | Ying Chan Ying Chan Yize Liu Yamin Kong Yamin Kong Weiming Xu Xiaohong Zeng Haichun Li Yan Guo Xinhua Tang Xinhua Tang Jinman Zhang Jinman Zhang Baosheng Zhu Baosheng Zhu |
| author_facet | Ying Chan Ying Chan Yize Liu Yamin Kong Yamin Kong Weiming Xu Xiaohong Zeng Haichun Li Yan Guo Xinhua Tang Xinhua Tang Jinman Zhang Jinman Zhang Baosheng Zhu Baosheng Zhu |
| author_sort | Ying Chan |
| collection | DOAJ |
| description | Background: The genetic etiology of fetal chromosome abnormalities remains unknown, which brings about an enormous burden for patients, families, and society. The spindle assembly checkpoint (SAC) controls the normal procedure of chromosome disjunction and may take part in the process.Objective: The aim of this study was to explore the association between polymorphisms of MAD1L1 rs1801368 and MAD2L1 rs1283639804, involved in SAC and fetal chromosome abnormalities.Methods: The case–control study collected 563 cases and 813 health controls to test the genotypes of MAD1L1 rs1801368 and MAD2L1 rs1283639804 polymorphisms by polymerase chain reaction–restrictive fragment length polymorphism methods (PCR-RFLP).Results:MAD1L1 rs1801368 polymorphism was associated with fetal chromosome abnormalities alone or combined to lower homocysteine (HCY) levels (alone: dominant: OR: 1.75, 95%CI: 1.19–2.57, and p = 0.005; CT vs. CC: OR = 0.73, 95%CI: 0.57–0.94, and p = 0.016; lower HCY: C vs. T: OR = 0.74, 95%CI: 0.57–0.95, and p = 0.02; dominant: OR = 1.75, 95%CI: 0.79–1.92, and p = 0.005). No significant differences were found in other genetic models or subgroups (p > 0.05, respectively). MAD2L1 rs1283639804 polymorphism revealed a sole genotype in the studied population. HCY is significantly associated with fetal chromosome abnormalities in younger groups (OR: 1.78, 95%CI: 1.28–2.47, and p = 0.001).Conclusion: The results implied that the polymorphism of MAD1L1 rs1801368 may become the susceptibility factor to fetal chromosome abnormalities alone or combined to lower HCY levels but not to MAD2L1 rs1283639804 polymorphism. In addition, HCY significantly affects fetal chromosomal abnormalities in younger women. |
| first_indexed | 2024-04-10T00:14:54Z |
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| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-10T00:14:54Z |
| publishDate | 2023-03-01 |
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| spelling | doaj.art-e2e63da7608444ba884310f4dc1de4ae2023-03-16T06:33:05ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-03-011410.3389/fgene.2023.11051841105184Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetusesYing Chan0Ying Chan1Yize Liu2Yamin Kong3Yamin Kong4Weiming Xu5Xiaohong Zeng6Haichun Li7Yan Guo8Xinhua Tang9Xinhua Tang10Jinman Zhang11Jinman Zhang12Baosheng Zhu13Baosheng Zhu14Department of Medical Genetics, NHC Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaSchool of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, ChinaSchool of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, ChinaDepartment of Medical Genetics, NHC Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaSchool of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, ChinaSchool of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, ChinaDepartment of Medical Genetics, NHC Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaDepartment of Medical Genetics, NHC Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaSchool of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, ChinaDepartment of Medical Genetics, NHC Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaSchool of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, ChinaDepartment of Medical Genetics, NHC Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaSchool of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, ChinaDepartment of Medical Genetics, NHC Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming, ChinaSchool of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, ChinaBackground: The genetic etiology of fetal chromosome abnormalities remains unknown, which brings about an enormous burden for patients, families, and society. The spindle assembly checkpoint (SAC) controls the normal procedure of chromosome disjunction and may take part in the process.Objective: The aim of this study was to explore the association between polymorphisms of MAD1L1 rs1801368 and MAD2L1 rs1283639804, involved in SAC and fetal chromosome abnormalities.Methods: The case–control study collected 563 cases and 813 health controls to test the genotypes of MAD1L1 rs1801368 and MAD2L1 rs1283639804 polymorphisms by polymerase chain reaction–restrictive fragment length polymorphism methods (PCR-RFLP).Results:MAD1L1 rs1801368 polymorphism was associated with fetal chromosome abnormalities alone or combined to lower homocysteine (HCY) levels (alone: dominant: OR: 1.75, 95%CI: 1.19–2.57, and p = 0.005; CT vs. CC: OR = 0.73, 95%CI: 0.57–0.94, and p = 0.016; lower HCY: C vs. T: OR = 0.74, 95%CI: 0.57–0.95, and p = 0.02; dominant: OR = 1.75, 95%CI: 0.79–1.92, and p = 0.005). No significant differences were found in other genetic models or subgroups (p > 0.05, respectively). MAD2L1 rs1283639804 polymorphism revealed a sole genotype in the studied population. HCY is significantly associated with fetal chromosome abnormalities in younger groups (OR: 1.78, 95%CI: 1.28–2.47, and p = 0.001).Conclusion: The results implied that the polymorphism of MAD1L1 rs1801368 may become the susceptibility factor to fetal chromosome abnormalities alone or combined to lower HCY levels but not to MAD2L1 rs1283639804 polymorphism. In addition, HCY significantly affects fetal chromosomal abnormalities in younger women.https://www.frontiersin.org/articles/10.3389/fgene.2023.1105184/fullMAD1L1MAD2L1homocysteine(HYC)fetal chromosome abnormalitypolymorphism |
| spellingShingle | Ying Chan Ying Chan Yize Liu Yamin Kong Yamin Kong Weiming Xu Xiaohong Zeng Haichun Li Yan Guo Xinhua Tang Xinhua Tang Jinman Zhang Jinman Zhang Baosheng Zhu Baosheng Zhu Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses Frontiers in Genetics MAD1L1 MAD2L1 homocysteine(HYC) fetal chromosome abnormality polymorphism |
| title | Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses |
| title_full | Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses |
| title_fullStr | Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses |
| title_full_unstemmed | Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses |
| title_short | Maternal genetic polymorphisms in the major mitotic checkpoint genes MAD1L1 and MAD2L1 associated with the risk of survival in abnormal chromosomal fetuses |
| title_sort | maternal genetic polymorphisms in the major mitotic checkpoint genes mad1l1 and mad2l1 associated with the risk of survival in abnormal chromosomal fetuses |
| topic | MAD1L1 MAD2L1 homocysteine(HYC) fetal chromosome abnormality polymorphism |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1105184/full |
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