International Journal of Human Diversity and Evolution
Coverage: 1923-1941 (Vols. I-XIX) & 1962-2023 (Vols. 1-61)
ISSN 0323-1119 (Print)
ISSN 2570-9127 (Online)
Journal Impact Factor 0.2
News: Volume 62 Issue 2 is in progress.

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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'.
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.
Endometriosis – Estrogen receptor-alpha gene – Single nucleotide polymorphism – Slovak population – Programmed cell death 6 gene

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