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'Gaľová J, Bernasovská J, Mačeková S, Petrejčíková E, Zigová M, Boroňová I, Konečná M, Sedlák V, 2022: Association of Endometriosis Risk and Genetic Polymorphisms in Slovak Women. Anthropologie (Brno) 60, 3: 469-477'. |
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| Abstract | | Endometriosis is a benign gynecological disease affecting approximately 10% of pre-menopausal women.
Although, it is not a life-threatening condition, it may cause pain and infertility in women, significantly reducing quality
of life. Results of epidemiological studies suggest that endometriosis is a genetic disorder with polygenic multifactorial
inheritance. The aim of this study was to explore and clarify the connection between selected polymorphisms in ESR1
and PDCD6 genes and endometriosis development risk in patients belonging to the majority population of Slovakia.
Genomic DNA was extracted from buccal swabs. Genetic analysis of polymorphisms (rs2234693, rs9340799 and
rs4957014) was performed by Real-Time PCR. The PCR amplification was performed on StepOneTM Real-Time PCR
System. The findings of our study suggest that the allele C and genotype CC of rs2234693 polymorphism is significantly
associated with an increased risk of endometriosis (P = 0.044) in women from Slovakia. For rs9340799 and
rs4957014 polymorphisms, no obvious association was found. Currently, surgical therapy is the preferred approach
for diagnosis and treatment of endometriosis. In the future, polymorphism PvuII may serve as a non-surgical
diagnostic genetic marker for predicting susceptibility to endometriosis. | | | | Keywords | | Endometriosis – Estrogen receptor-alpha gene – Single nucleotide polymorphism – Slovak population
– Programmed cell death 6 gene | | | | DOI | | https://doi.org/10.26720/anthro.22.05.20.1 | | |
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