Abstract
PurposeEndometriosis is considered to be an estrogen-related chronic inflammatory disease. The 17β-hydroxysteroid dehydrogenase 1 (HSD17B1) converts estrone to 17β estradiol. The role of HSD17B1 937 A>G (rs605059) single nucleotide polymorphism (SNP) in development of endometriosis is still disputable. This study evaluated the association of the HSD17B1 937 A>G (rs605059) SNP with infertile women affected by endometriosis from Polish Caucasian population.MethodsThe genotyping of cases (n = 290) and fertile women (n = 410) was conducted by high-resolution melting curve analysis.ResultsStatistical analysis demonstrated that the HSD17B1 937 A>G SNP is associated with endometriosis in stages I and II. The ptrend and pallelic values calculated for the HSD17B1 937 A>G polymorphism were statistically significant and were equal to 0.001 and 0.0009, respectively. There was a significant association for the dominant model: (AG + GG vs AA) OR = 1.973 (95% CI = 1.178–3.304), p = 0.009, and for the recessive model: (GG vs AG + AA) OR = 1.806 (95% CI = 1.178–2.770), p = 0.006. However, we did not find statistical association of HSD17B1 937 A>G polymorphism with all infertile women with endometriosis or infertile women with endometriosis in stages III and IV.ConclusionOur genetic study demonstrated HSD17B1 937 G variant as a risk factor for infertility in women with stage I and II endometriosis in Polish Caucasian patients.
Highlights
Endometriosis is a benign disease affecting women of childbearing age, which is characterized by the presence of ectopic endometrial implants outside the uterine cavity [1]
Statistical analysis demonstrated that the HSD17B1 937 A>G single nucleotide polymorphism (SNP) is associated with endometriosis in stages I and II
The ptrend and pallelic values calculated for the HSD17B1 937 A>G polymorphism were statistically significant and were equal to 0.001 and 0.0009, respectively
Summary
Endometriosis is a benign disease affecting women of childbearing age, which is characterized by the presence of ectopic endometrial implants outside the uterine cavity [1]. These implants are found in the pelvis, uterosacral ligaments, ovaries, rectovaginal septum, and pouch of Douglas. This disorder affects 5–10% of women in reproductive age, with incidence of 30–50% in infertile women [2,3,4]. Retrograde menstruation is recognized as a possible mechanism in the development of this disease. The retrograde menstruation is observed in 90% of women of
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