CYP2R1 基因上的 SNP rs12794714 与血清维生素 D 水平和复发性自然流产（RSA）有关：一项病例对照研究。
SNP rs12794714 of CYP2R1 is associated with serum vitamin D levels and recurrent spontaneous abortion (RSA): a case-control study.
机构信息
The Joint International Research Laboratory of Reproduction and Development, Ministry of Education, Department of Reproductive Biology, School of Public Health and Management, Chongqing Medical University, Chongqing, 400016, People's Republic of China.
NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning Science and Technology Research Institute, Chongqing, 401120, People's Republic of China.
出版信息
Arch Gynecol Obstet. 2021 Jul;304(1):179-190. doi: 10.1007/s00404-021-06004-y. Epub 2021 Feb 24.
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.
目的
维生素 D（VD）缺乏似乎与复发性自然流产（RSA）的风险相关。维生素 D 受体（VDR）和细胞色素 P450 家族 2 亚家族 R 成员 1（CYP2R1）是两种对 VD 代谢和作用至关重要的基因。然而，这些基因中的单核苷酸多态性（SNPs）是否与 RSA 的风险相关尚不清楚。因此，我们旨在描述 VDR SNPs、CYP2R1 SNPs 与 RSA 之间的关系。
方法
本病例对照研究纳入了 75 例 RSA 患者和 83 例对照。采用 LC-MS/MS 和流式细胞术分别检测血清 VD 和一些细胞因子。采用聚合酶链反应（PCR）和高通量测序对 CYP2R1 的三个 SNPs（rs10741657、rs10766197 和 rs12794714）和 VDR 的五个 SNPs（rs7975232、rs1544410、rs2189480、rs2228570 和 rs2239179）进行基因分型。所有数据均采用适当的方法和不同的模型进行分析。
结果
结果表明，CYP2R1 rs12794714 的 AG 基因型与 VD 水平显著相关（OR 0.686；95%CI 0.49-0.96；p=0.028）。此外，CYP2R1 rs12794714 的 AG 和 GG 基因型与 RSA 的风险显著相关（OR 52.394、59.497；95%CI 2.683-1023.265、3.110-1138.367；p=0.009、0.007）。
结论
我们的结果表明，CYP2R1 rs12794714 可能是 RSA 的一个危险因素。因此，对孕妇进行 CYP2R1 rs12794714 的早期筛查对于 RSA 的主动咨询和治疗是必要的。
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