Polymorphic variants in vitamin D signaling pathway genes and the risk of endometriosis-associated infertility

Szczepańska, Magdalena; Mostowska, Adrianna; Wirstlein, Przemysław; Skrzypczak, Jana; Misztal, Matthew; Jagodzińśki, Paweł P.

doi:10.3892/mmr.2015.4309

Cited by 29 publications

(18 citation statements)

References 37 publications

(50 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The study conducted by Vilarino and colleagues did not find any difference in the frequency of several VDR polymorphisms (SNPs) studied by restriction fragment length polymorphisms among 132 women with endometriosis-related infertility, 62 women with idiopathic infertility, and 133 controls [42]. Similar results were reported by Szczepańska and colleagues (2015), as they did not demonstrate differences in genotype and allele frequencies of several VDR SNPs between 154 women with endometriosis-associated infertility and 347 controls [43]. …”

Section: Vitamin D and Endometriosissupporting

confidence: 53%

Vitamin D and Endometrium: A Systematic Review of a Neglected Area of Research

Cermisoni

Alteri

Corti

et al. 2018

IJMS

View full text Add to dashboard Cite

Growing evidence supports a role of vitamin D (VD) in reproductive health. Vitamin D receptor (VDR) is expressed in the ovary, endometrium, and myometrium. The biological actions of VD in fertility and reproductive tissues have been investigated but mainly using animal models. Conversely, the molecular data addressing the mechanisms underlying VD action in the physiologic endometrium and in endometrial pathologies are still scant. Levels of VDR expression according to the menstrual cycle are yet to be definitively clarified, possibly being lower in the proliferative compared to the secretory phase and in mid-secretory compared to early secretory phase. Endometrial tissue also expresses the enzymes involved in the metabolism of VD. The potential anti-proliferative and anti-inflammatory effects of VD for the treatment of endometriosis have been investigated in recent years. Treatment of ectopic endometrial cells with 1,25(OH)2D3 could significantly reduce cytokine-mediated inflammatory responses. An alteration of VD metabolism in terms of increased 24-hydroxylase mRNA and protein expression has been demonstrated in endometrial cancer, albeit not consistently. The effect of the active form of the vitamin as an anti-proliferative, pro-apoptotic, anti-inflammatory, and differentiation-inducing agent has been demonstrated in various endometrial cancer cell lines.

show abstract

Section: Vitamin D and Endometriosissupporting

confidence: 53%

Vitamin D and Endometrium: A Systematic Review of a Neglected Area of Research

Cermisoni

Alteri

Corti

et al. 2018

IJMS

View full text Add to dashboard Cite

show abstract

“…Recently, it has been suggested that CYP17 , VDR , MUC17 , COX-2 , WNT4 , E-cadherin , CYP19 , CYP17 , TYK2 , NFKB1 , and MUC2 gene variants also contributed to endometriosis-related infertility [17, 47–55]. …”

Section: Discussionmentioning

confidence: 99%

Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis

Osiński

Mostowska

Wirstlein

et al. 2017

J Assist Reprod Genet

Self Cite

View full text Add to dashboard Cite

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 p trend and p allelic 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.Electronic supplementary materialThe online version of this article (doi:10.1007/s10815-017-0911-9) contains supplementary material, which is available to authorized users.

show abstract

“…In the same study, total 25(OH)D concentrations did not significantly differ between the two groups; however, free and bioavailable vitamin D concentrations were higher among the infertile women. The genotype distribution of GC rs1155563 and rs2298849 SNPs was compared between 154 women with endometriosis-associated infertility and 347 controls; still, no statistically significant differences were detected ( 61 ).…”

Section: Vdbp As a Marker Of A Healthy Ongoing Pregnancy: Clinical Immentioning

confidence: 99%

Deconvoluting the Biological Roles of Vitamin D-Binding Protein During Pregnancy: A Both Clinical and Theoretical Challenge

et al. 2018

View full text Add to dashboard Cite

The teleological purpose of an ongoing pregnancy is to fulfill its fundamental role of a successful, uncomplicated delivery, in conjunction with an optimal intrauterine environment for the developing fetus. Vitamin D metabolism is adapted to meet both these demands during pregnancy; first by stimulation of calcium absorption for adequate intrauterine bone mineral accrual of the fetus, and second, by enhancing systemic and local maternal tolerance to paternal and fetal alloantigens. Vitamin D-binding protein (VDBP) is one of the key biomolecules that optimize vitamin D homeostasis and also contributes as an immune regulator for a healthy, ongoing pregnancy. In this regard, recent results indicate that dysregulation of VDBP equilibrium could be a risk factor for adverse fetal, maternal, and neonatal outcomes, including preeclampsia, preterm birth, and gestational diabetes. Moreover, it has been hypothesized to be also implicated in the interpretation of vitamin D status in the pregnant state. The aim of this review is to assess available literature regarding the association of VDBP with clinical outcomes during pregnancy, as a potential biomarker for future clinical practice, with a discourse on current knowledge gaps and future research agenda.

show abstract

Polymorphic variants in vitamin D signaling pathway genes and the risk of endometriosis-associated infertility

Cited by 29 publications

References 37 publications

Vitamin D and Endometrium: A Systematic Review of a Neglected Area of Research

Vitamin D and Endometrium: A Systematic Review of a Neglected Area of Research

Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis

Deconvoluting the Biological Roles of Vitamin D-Binding Protein During Pregnancy: A Both Clinical and Theoretical Challenge

Contact Info

Product

Resources

About