Association of two selected polymorphisms with developed endometriosis in women from Slovakia

Jozef Pitonak, J Pitonak, Jana Gaľová, J Galova, Jarmila Bernasovská, J Bernasovska
Bratislavske lekarske listy · 2016 · vol. 117(08) , pp. 452–455 · doi:10.4149/bll_2016_088 · PMID:27546697 · W2517620747
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

Polymorphism rs3756712 in the PDCD6 gene was significantly associated with a higher risk of endometriosis development in Slovak women, while rs4957014 showed no such association.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-08 ⓘ

This study investigated whether two mononucleotide polymorphisms (rs4957014 and rs3756712) in the programmed cell death gene 6 (PDCD6) are associated with developing endometriosis in women from Slovakia. Buccal DNA samples were analyzed by real-time PCR, and allelic/genotype frequencies were compared between 52 women with endometriosis and 63 controls. The rs3756712 variant G allele frequency was higher in patients than controls (0.42 vs 0.29), showing a statistically significant association with endometriosis risk (p=0.029; OR=1.833), while rs4957014 showed no connection. The paper relates to endometriosis in that it identifies PDCD6 rs3756712 as significantly associated with endometriosis development in this Slovak population.

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Abstract

OBJECTIVES: To clarify the connection between two selected mononucleotide polymorphisms (rs4957014 and rs3756712) in programmed cell death gene 6 (PDCD6) and endometriosis development risk in patients belonging to the majority population of Slovakia. METHODS: From all women involved in the research a buccal DNA sample was taken. A genetic analysis of selected polymorphisms was implemented using Real-time PCR method. Variance in allelic and genotype frequencies was statistically evaluated between the controlgroup and the group of patients. RESULTS: The analysed group consisted of 52 women suffering from endometriosis and the control group of 63 women. Variant G allele frequency in the group of patients in case of polymorphism rs3756712 had a value of 0.42 and in the control group 0.29; that represents its statistically and significantly higher occurrence in the group of patients suffering from endometriosis (p = 0.029 and OR = 1.833). Presence of G allele is related to almost 1.9 times higher risk of endometriosis development. CONCLUSION: Achieved results show that polymorphism rs3756712 is significantly associated with the risk of endometriosis development in Slovak women. Polymorphism rs4957014 did not show any connection with development of endometriosis (Tab. 5, Ref. 10).

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Apoptosis Regulatory Proteins Calcium-Binding Proteins Endometriosis Genetic Predisposition to Disease Polymorphism, Single Nucleotide Real-Time Polymerase Chain Reaction Adolescent Adult Alleles Apoptosis Regulatory Proteins Calcium-Binding Proteins Case-Control Studies Endometriosis Endometriosis Female Gene Frequency Genotype Humans Polymorphism, Single Nucleotide Real-Time Polymerase Chain Reaction

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