Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes and Its Influence on Allele-Specific Gene Expression in Endometriosis
Joint Authors
Romanowicz, Hanna
Smolarz, Beata
Szaflik, Tomasz
Szyłło, Krzysztof
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-12-02
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Objectives.
Endometriosis is supported by hormonal, immunological, and environmental factors.
No specific marker for endometriosis has yet been identified.
ESR2 and CYP19A1 genes play a major role in the hormonal control of endometriosis women, the development of which largely depends on steroid hormones.
Aim.
An analysis of ESR2 and CYP19A1 allele-specific gene expressions in the context of the risk for endometriosis occurrence.
Methods.
The study material included paraffin-embedded tissue specimens, collected from patients (n=100) with endometriosis.
Blood samples from age-matched, endometriosis-free women (n=100) served as a control.
the RT-PCR technique was performed to observe the expression of ESR2 and CYP19A1 genes.
Moreover, Sanger’s sequencing method was applied for polymorphism analysis.
Results.
A set of 4 single-nucleotide polymorphisms (SNPs) was determined; all of them most significantly associated with endometriosis: rs4986938 (G>A)(chromosome 14), rs928554 (A>G) (chromosome 14), rs10046 (C>T) (chromosome 15), and rs4646 (C>A) (chromosome 15).
There were no differences in the distribution of genotypes and alleles in the studied groups, taking into account ESR2 and CYP19A1 gene expressions.
Conclusion.
The ESR2 and CYP19A1 polymorphisms may not be correlated with endometriosis susceptibility.
Further analysis is needed to specify the role of these polymorphisms in the pathogenesis of endometriosis.
American Psychological Association (APA)
Smolarz, Beata& Szaflik, Tomasz& Romanowicz, Hanna& Szyłło, Krzysztof. 2020. Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes and Its Influence on Allele-Specific Gene Expression in Endometriosis. Disease Markers،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1154119
Modern Language Association (MLA)
Smolarz, Beata…[et al.]. Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes and Its Influence on Allele-Specific Gene Expression in Endometriosis. Disease Markers No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1154119
American Medical Association (AMA)
Smolarz, Beata& Szaflik, Tomasz& Romanowicz, Hanna& Szyłło, Krzysztof. Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes and Its Influence on Allele-Specific Gene Expression in Endometriosis. Disease Markers. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1154119
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1154119