Association of TP53 rs1042522 G > C, MDM2 rs2279744 T > G, and miR-34b/c rs4938723 T > C polymorphisms with aneuploidy pregnancy susceptibility

Ying Chan; Weiming Xu; Yan Feng; Yan Zhang; Suyun Li; Zibiao Geng; Zhijiao Liu; Qingfen Zhao; Jinman Zhang; Baosheng Zhu

doi:10.1186/s12884-023-05945-3

BMC Pregnancy and Childbirth (Aug 2023)

Association of TP53 rs1042522 G > C, MDM2 rs2279744 T > G, and miR-34b/c rs4938723 T > C polymorphisms with aneuploidy pregnancy susceptibility

Ying Chan,
Weiming Xu,
Yan Feng,
Yan Zhang,
Suyun Li,
Zibiao Geng,
Zhijiao Liu,
Qingfen Zhao,
Jinman Zhang,
Baosheng Zhu

Affiliations

Ying Chan: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province
Weiming Xu: Medical Faculty & Affiliated Hospital, Kunming University of Science and Technology
Yan Feng: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province
Yan Zhang: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province
Suyun Li: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province
Zibiao Geng: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province
Zhijiao Liu: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province
Qingfen Zhao: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province
Jinman Zhang: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province
Baosheng Zhu: Department of Medical Genetics, NHC Key Laboratory of Periconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, First People’s Hospital of Yunnan Province

DOI: https://doi.org/10.1186/s12884-023-05945-3
Journal volume & issue: Vol. 23, no. 1
pp. 1 – 7

Abstract

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Abstract Background Aneuploidy pregnancy is a severe major birth defect and causes about 50% spontaneous miscarriages with unknown etiology. To date, only a few epidemiological studies with small sample sizes have investigated the risk factors for aneuploidy pregnancy. TP53, MDM2, and miR-34b/c genes are implicated in tumorigenesis with aneuploidy, yet the function of their polymorphisms in aneuploidy pregnancy susceptibility needs to be clarified. Objective To elucidate the association of TP53 rs1042522 G > C, MDM2 rs2279744 309 T > G, and miR-34b/c rs4938723 T > C specific polymorphisms with aneuploidy pregnancy. Methods In the retrospective case-control study, 330 aneuploidies pregnancy women and 813 normal pregnancy controls were recruited between January 2018 and April 2022 at the First People’s Hospital of Yunnan Province, Kunming, China. Three functional polymorphisms, the TP53 rs1042522 G > C (Arg72Pro), MDM2 rs2279744 309 T > G, and miR-34b/c rs4938723 T > C, were genotyped using the snapshot method. Results The frequency distribution of three genotypic variants was not different between case and control pregnant women and was similar to with Hardy-Weinberg Equilibrium (HWE). However, in the younger subgroup (less than 35 years old), a significant difference was detected in allele and recessive model (p = 0.01). In the advanced age subgroup (more than or equal to 35 years old), G of MDM2 rs2279744 T > G revealed a significantly higher frequency in cases than controls (p = 0.045), and miR-34b/c rs4938723 T > C revealed a significant difference under the dominant model (p = 0.03), but no significant differences were observed in other models and in both younger and older subgroup (p > 0.05, respectively). These results suggest that individual polymorphisms were not associated with aneuploidy pregnancy, combined with age, they may serve as a risk factor for aneuploidy pregnancy. Conclusion Combination of TP53 rs1042522 G > C, MDM2 rs2279744 T > G, and miR-34b/c rs4938723 T > C polymorphisms with maternal age may be related to aneuploidy pregnancy susceptibility. These findings might elaborate on the genetic etiology of aneuploidy pregnancy.

Published in BMC Pregnancy and Childbirth

ISSN: 1471-2393 (Online)
Publisher: BMC
Country of publisher: United Kingdom
LCC subjects: Medicine: Gynecology and obstetrics
Website: http://bmcpregnancychildbirth.biomedcentral.com

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