Table_5_Associations of vitamin D-related single nucleotide polymorphisms with post-stroke depression among ischemic stroke population.XLSX

ObjectiveTo investigate the relationship between single nucleotide polymorphisms (SNPs) related to vitamin D (VitD) metabolism and post-stroke depression (PSD) in patients with ischemic stroke.
MethodsA total of 210 patients with ischemic stroke were enrolled at the Department of Neurology in Xiangya Hospital, Central South University, from July 2019 to August 2021. SNPs in the VitD metabolic pathway (VDR, CYP2R1, CYP24A1, and CYP27B1) were genotyped using the SNPscan™ multiplex SNP typing kit. Demographic and clinical data were collected using a standardized questionnaire. Multiple genetic models including dominant, recessive, and over-dominant models were utilized to analyze the associations between SNPs and PSD.
ResultsIn the dominant, recessive, and over-dominant models, no significant association was observed between the selected SNPs in the CYP24A1 and CYP2R1 genes and PSD. However, univariate and multivariate logistic regression analysis revealed that the CYP27B1 rs10877012 G/G genotype was associated with a decreased risk of PSD (OR: 0.41, 95% CI: 0.18–0.92, p = 0.030 and OR: 0.42, 95% CI: 0.18–0.98, p = 0.040, respectively). Furthermore, haplotype association analysis indicated that rs11568820-rs1544410-rs2228570-rs7975232-rs731236 CCGAA haplotype in the VDR gene was associated with a reduced risk of PSD (OR: 0.14, 95% CI: 0.03–0.65, p = 0.010), whereas no significant association was observed between haplotypes in the CYP2R1 and CYP24A1 genes and PSD.
ConclusionOur findings suggest that the polymorphisms of VitD metabolic pathway genes VDR and CYP27B1 may be associated with PSD in patients with ischemic stroke.

目的 本研究旨在探讨与维生素D（Vitamin D, VitD）代谢相关的单核苷酸多态性（single nucleotide polymorphisms, SNPs）与缺血性脑卒中患者卒中后抑郁（post-stroke depression, PSD）的关联。
方法 本研究于2019年7月至2021年8月期间，于中南大学湘雅医院神经内科纳入210例缺血性脑卒中患者。采用SNPscan™多重SNP分型试剂盒对维生素D代谢通路（维生素D受体VDR、CYP2R1、CYP24A1及CYP27B1）中的SNPs进行基因分型。通过标准化问卷收集人口学及临床资料。采用显性模型、隐性模型及超显性模型等多种遗传模型分析SNPs与PSD的关联。
结果 在显性、隐性及超显性模型中，CYP24A1与CYP2R1基因所筛选的SNPs与PSD均未观察到显著关联。然而，单因素及多因素logistic回归分析显示，CYP27B1基因rs10877012位点的G/G基因型与PSD发病风险降低相关（比值比OR=0.41，95%置信区间CI：0.18~0.92，p=0.030；OR=0.42，95%CI：0.18~0.98，p=0.040）。进一步的单体型关联分析表明，VDR基因的rs11568820-rs1544410-rs2228570-rs7975232-rs731236 CCGAA单体型与PSD发病风险降低相关（OR=0.14，95%CI：0.03~0.65，p=0.010）；而CYP2R1及CYP24A1基因的单体型与PSD未观察到显著关联。
结论 本研究结果提示，维生素D代谢通路基因VDR及CYP27B1的多态性可能与缺血性脑卒中患者的PSD存在关联。