Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jul;304(1):179-190.
doi: 10.1007/s00404-021-06004-y. Epub 2021 Feb 24.

SNP rs12794714 of CYP2R1 is associated with serum vitamin D levels and recurrent spontaneous abortion (RSA): a case-control study

Ding-Yuan Liu  1 , Ren-Yan Li  2 , Li-Juan Fu  3 , Enoch Appiah Adu-Gyamfi  1 , Yin Yang  4 , Ying Xu  4 , Le-Tian Zhao  2 , Tian-Feng Zhang  2 , Hua-Qiong Bao  5 , Xiao-Ou Xu  5 , Xiao-Han Gao  2 , Xue-Niu Yang  6 , Yu-Bin Ding  7
Affiliations

SNP rs12794714 of CYP2R1 is associated with serum vitamin D levels and recurrent spontaneous abortion (RSA): a case-control study

Ding-Yuan Liu et al. Arch Gynecol Obstet. 2021 Jul.

Abstract

Purpose: Vitamin D (VD) deficiency seems to be associated with the risk of recurrent spontaneous abortion (RSA). Vitamin D receptor (VDR) and cytochrome P450 family 2 subfamily R member 1 (CYP2R1) are two genes which are vital for VD metabolism and actions. However, whether single-nucleotide polymorphisms (SNPs) in these genes are correlated with the risk of RSA are poorly understood. Therefore, we aimed to characterize the relationships among VDR SNPs, CYP2R1 SNPs and RSA.

Methods: This case-control study enrolled 75 RSA patients and 83 controls. Serum VD and some cytokines were detected with LC-MS/MS and flow cytometry, respectively. Genotyping for three SNPs of CYP2R1 (rs10741657, rs10766197 and rs12794714) and five SNPs of VDR (rs7975232, rs1544410, rs2189480, rs2228570 and rs2239179) was done with polymerase chain reaction (PCR) and high-throughput sequencing. All the data were analyzed with appropriate methods and in different models.

Results: The results revealed a significant correlation between the AG genotype of CYP2R1 rs12794714 and VD levels (OR 0.686; 95% CI 0.49-0.96; p = 0.028). Besides, the AG and GG genotypes of CYP2R1 rs12794714 were markedly related to the risk of RSA (OR 52.394, 59.497; 95% CI 2.683-1023.265, 3.110-1138.367; p = 0.009, 0.007, respectively).

Conclusion: Our results indicate that CYP2R1 rs12794714 might be a risk factor for RSA. Hence, early screening of pregnant women for CYP2R1 rs12794714 is necessary to warrant proactive counseling and treatment against RSA.

Keywords: CYP2R1; Recurrent spontaneous abortion (RSA); Single-nucleotide polymorphisms (SNPs); Vitamin D; Vitamin D receptor (VDR).

PubMed Disclaimer

References

    1. Definitions of infertility and recurrent pregnancy loss: a committee opinion (2020). Fertil Steril 113(3):533–535. https://doi.org/10.1016/j.fertnstert.2019.11.025
    1. Bender Atik R, Christiansen OB, Elson J, Kolte AM, Lewis S, Middeldorp S, Nelen W, Peramo B, Quenby S, Vermeulen N, Goddijn M (2018) ESHRE guideline: recurrent pregnancy loss. Hum Reprod Open 2:hoy004. https://doi.org/10.1093/hropen/hoy004 - DOI
    1. Bardos J, Hercz D, Friedenthal J, Missmer SA, Williams Z (2015) A national survey on public perceptions of miscarriage. Obstet Gynecol 125(6):1313–1320. https://doi.org/10.1097/aog.0000000000000859 - DOI - PubMed - PMC
    1. He L, Wang T, Xu H, Chen C, Liu Z, Kang X, Zhao A (2019) Prevalence of depression and anxiety in women with recurrent pregnancy loss and the associated risk factors. Arch Gynecol Obstet 300(4):1061–1066. https://doi.org/10.1007/s00404-019-05264-z - DOI - PubMed
    1. Elkarhat Z, Kindil Z, Zarouf L, Razoki L, Aboulfaraj J, Elbakay C, Nassereddine S, Nasser B, Barakat A, Rouba H (2019) Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review. J Assist Reprod Genet 36(3):499–507. https://doi.org/10.1007/s10815-018-1373-4 - DOI - PubMed

Publication types

LinkOut - more resources