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Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
p53 signaling pathway polymorphisms associated to recurrent pregnancy loss
L R Fraga1, C G Dutra, J A Boquett
1Post-Graduation Program in Genetics and Molecular Biology, Departament of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul (UFRGS), Caixa Postal 15031 - Agencia Campus UFRGS, Porto Alegre, RS, 91501-970, Brazil, lucas_r_fraga@hotmail.com.
The TP53 Pro72Arg polymorphism and MDM2 SNP309 are studied for recurrent pregnancy loss (RPL). A combination of TP53 Arg/Arg and MDM2 TT genotypes increases RPL risk, suggesting a potential genetic predisposition.
Area of Science:
- Genetics
- Reproductive Medicine
- Molecular Biology
Background:
- The p53 protein is crucial for genomic stability and tumor suppression.
- Polymorphisms in the p53 signaling pathway are linked to infertility and pregnancy complications.
- The TP53 Pro72Arg polymorphism's role in recurrent pregnancy loss (RPL) remains controversial.
Purpose of the Study:
- To investigate the association between specific p53 pathway gene polymorphisms and RPL risk.
- To evaluate the impact of TP53 (Pro72Arg), MDM2 (SNP309), and LIF polymorphisms on RPL.
Main Methods:
- A case-control study involving 120 women with RPL and 143 fertile controls.
- Genotyping for TP53 c.215G>C (Pro72Arg), MDM2 c.14+309T>G (SNP309), and LIF c.1414T>G.
- Multivariate analysis adjusted for lifestyle and demographic factors.
Main Results:
- No significant association was found when analyzing polymorphisms individually.
- A significant interaction between TP53 Arg/Arg (rs1042522) and MDM2 TT (rs2279744) genotypes was identified.
- This combined genotype significantly increased the risk of RPL (OR = 2.58, p = 0.006).
Conclusions:
- The combination of TP53 Arg/Arg and MDM2 TT genotypes may serve as a risk factor for recurrent pregnancy loss.
- Further research is warranted to elucidate the precise mechanisms involved in this genetic association.
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