Unexplained infertility 4X more likely if poor vitamin D receptor

VDR gene polymorphisms as a significant factor in unexplained infertility

Gene Reports, Volume 21, December 2020, https://doi.org/10.1016/j.genrep.2020.100962

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Highlights

  • VDR-Vitamin D system takes part role in fertility and regulation of decidual cells.

  • Locally produced vitamin D related to endometrial receptivity and success implantation.

  • VDR gene BsmI and TaqI polymorphisms were a significant risk in UI.

  • VDR gene Aa genotype in ApaI polymorphism had a protective role in UI.

  • Vitamin D level could be a solution in the management of unexplained infertility.

Objectives

There are various cellular and molecular disorders of the endometrium that have been associated with unexplained infertility (UI). The physiological effects of 1,25(OH)2D3 are directed by the nuclear Vitamin D receptor(VDR). VDR gene expression and vitamin D converting enzyme have been displayed in both the proliferative and secretory process of the menstrual period in the endometrium. The study demonstrated the defects of uterine development and decidualization resulting in infertility in the VDR knockout of female mice.

Design & methods

VDR gene polymorphisms and vitamin D levels were studied in the groups, included 101 patients and 100 control, by the PCR-RFLP and the method of ECLIA. Our findings suggest that the VDR gene polymorphisms are connected with the risk of UI and, interestingly, genotypes were associated with vitamin D because serum vitamin D levels were importantly greater with Aa, Bb, TT, FF, and ff genotypes in the UI group (p = 0.001, p = 0.001, p = 0.002, p = 0.004, p = 0.003*, respectively).

We showed that

  • having the Aa genotype in VDR gene ApaI polymorphism reduced the risk of UI by 80% (p = 0.044, OR = 0.20, CI: [0.04–0.96]);

  • having the Tt, tt genotypes in VDR gene TaqI polymorphism increased the risk of UI by 4.26 times (p = 0.001 OR = 4.26, CI:[2.10–8.62])and, 4.32 times (p = 0.001, OR = 4.32, CI:[1.76–10.62]), respectively; and

  • having the BB genotype in BsmI polymorphism increased the risk of UI by 3.47 times (p = 0.005, OR = 3.47, CI:[1.44–8.36]).

Conclusion

As a consequence, impaired VDR gene expression affects the endometrial receptivity and the success of the implantation via unknown mechanisms.

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