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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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ATP2B1 gene rs71454161, rs73196661 and rs73196675 polymorphisms in eclampsia
1Department of Obstetrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. zhouzy@zzu.edu.cn.
European Review for Medical and Pharmacological Sciences
|March 7, 2022
Summary
Genetic variations in the ATP2B1 gene are linked to eclampsia. Specific polymorphisms and haplotypes were associated with increased disease risk and severity, impacting gene expression and clinical indicators.
Area of Science:
- Genetics
- Obstetrics
- Molecular Biology
Background:
- Eclampsia is a severe pregnancy complication.
- The role of specific gene polymorphisms in eclampsia is not fully understood.
Purpose of the Study:
- To investigate the association between ATP2B1 gene polymorphisms and eclampsia.
- To explore the correlation of these polymorphisms with gene expression and clinical indicators.
Main Methods:
- Case-control study with 150 eclampsia patients and 150 healthy controls.
- DNA extraction and sequencing of ATP2B1 gene polymorphisms (rs71454161, rs73196661, rs73196675).
- Analysis combined with Reverse Transcription-quantitative Polymerase Chain Reaction (RT-qPCR) for gene expression and clinical data.
Main Results:
- Significant differences in allele and genotype distributions of ATP2B1 polymorphisms (rs71454161, rs73196661, rs73196675) between groups.
- Specific alleles (G for rs71454161, T for rs73196661) and genotypes (GG for rs71454161, TT for rs73196661, CG for rs73196675) were more frequent in eclampsia patients.
- Polymorphisms correlated with ATP2B1 gene expression, 24-h urine protein, and lactate dehydrogenase (LDH) levels.
Conclusions:
- ATP2B1 gene polymorphisms are significantly associated with the occurrence and progression of eclampsia.
- These findings suggest ATP2B1 as a potential genetic factor in eclampsia pathogenesis.
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