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

Disease Markers

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

Diseases

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