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

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 polymorp...

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Published in:Archives of gynecology and obstetrics 2021-07, Vol.304 (1), p.179-190
Main Authors: Liu, Ding-Yuan, Li, Ren-Yan, Fu, Li-Juan, Adu-Gyamfi, Enoch Appiah, Yang, Yin, Xu, Ying, Zhao, Le-Tian, Zhang, Tian-Feng, Bao, Hua-Qiong, Xu, Xiao-Ou, Gao, Xiao-Han, Yang, Xue-Niu, Ding, Yu-Bin
Format: Article
Language:English
Subjects:
Endocrinology
General Gynecology
Gynecology
Human Genetics
Medicine
Medicine & Public Health
Miscarriage
Obstetrics/Perinatology/Midwifery
Vitamin D
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Summary: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.
ISSN:0932-0067
1432-0711
DOI:10.1007/s00404-021-06004-y