母体和胎儿维生素 D 代谢及脐带血 25-羟维生素 D 的遗传变异。
Maternal and Fetal Genetic Variation in Vitamin D Metabolism and Umbilical Cord Blood 25-Hydroxyvitamin D.
机构信息
MRC Lifecourse Epidemiology Centre, University of Southampton, Southampton,UK.
Paediatric Endocrinology, Southampton Children's Hospital, Southampton University Hospitals NHS Foundation Trust, Southampton,UK.
出版信息
J Clin Endocrinol Metab. 2022 Jul 14;107(8):e3403-e3410. doi: 10.1210/clinem/dgac263.
CONTEXT
Single nucleotide polymorphisms (SNPs) in vitamin D metabolism pathway genes are associated with circulating 25-hydroxyvitamin D (25(OH)D) in adults. Less is known about the relationships between mother and offspring SNPs and umbilical cord blood 25(OH)D.
OBJECTIVE
(1) To undertake a meta-analysis of the relationships of maternal and offspring SNPs in the vitamin D metabolism pathway and cord blood 25(OH)D in pregnant women including novel data; and (2) to examine these relationships in women who received antenatal cholecalciferol supplementation in a clinical trial.
METHODS
Novel data analysis from an observational mother-offspring cohort study (Southampton Women's Survey) and the MAVIDOS double-blind, randomized, placebo-controlled trial of 1000 IU/day cholecalciferol supplementation in pregnancy, and an electronic literature search of published studies in PubMed up to 31 July 2021. Studies reporting associations between rs12785878 (DHCR7), rs10741657 (CYP2R1), rs6013897 (CYP24A1), or rs2282679 (GC) and cord blood 25(OH)D. One published study was included in addition to the novel data analysis. Associations between both maternal and offspring SNPs at rs2282679 (GC) and rs12785878 (DHCR7), and cord blood 25(OH)D were identified. When maternal genotype was adjusted for offspring genotype, and vice versa, there was persisting evidence for associations with maternal rs12785878 (β [95% CI] 1.6 nmol/L [0.3, 2.8] per common allele), and offspring rs2282679 (β 3.1 nmol/L ]2.0, 4.4] per common allele). Maternal and offspring SNPs at rs1074657 and rs613897 were not associated with cord blood 25(OH)D.
RESULT
Associations between both maternal and offspring SNPs at rs2282679 (GC) and rs12785878 (DHCR7), and cord blood 25(OH)D were identified. When maternal genotype was adjusted for offspring genotype, and vice versa, there was persisting evidence for associations with maternal rs12785878 (β [95% CI] 1.6 nmol/L [0.3, 2.8] per common allele), and offspring rs2282679 (β 3.1 nmol/L ]2.0, 4.4] per common allele). Maternal and offspring SNPs at rs1074657 and rs613897 were not associated with cord blood 25(OH)D.
CONCLUSION
Common genetic variation in the vitamin D metabolism pathway is associated with umbilical cord blood 25(OH)D.
背景
维生素 D 代谢途径中的单核苷酸多态性（SNPs）与成人循环 25-羟维生素 D（25（OH）D）有关。关于母亲和后代 SNPs 与脐带血 25（OH）D 之间的关系知之甚少。
目的
（1）对维生素 D 代谢途径中的母系和后代 SNPs 与包括新数据在内的孕妇脐带血 25（OH）D 进行荟萃分析；（2）在一项临床试验中，检查接受产前胆钙化醇补充的女性中这些关系。
方法
对来自观察性母子队列研究（南安普敦妇女调查）和 MAVIDOS 双盲、随机、安慰剂对照的妊娠 1000IU/天胆钙化醇补充的新数据分析，以及对截至 2021 年 7 月 31 日发表的研究在 PubMed 上的电子文献检索。研究报告 rs12785878（DHCR7）、rs10741657（CYP2R1）、rs6013897（CYP24A1）或 rs2282679（GC）与脐带血 25（OH）D 之间的关联。除了新数据分析外，还包括一项已发表的研究。鉴定了 rs2282679（GC）和 rs12785878（DHCR7）与 rs2282679（GC）和 rs12785878（DHCR7）与脐带血 25（OH）D 之间的关联。当调整后代基因型时，母体基因型与 rs2282679（GC）和 rs12785878（DHCR7）之间存在关联，反之亦然（β[95%CI] 1.6 nmol/L[0.3, 2.8]每常见等位基因），以及后代 rs2282679（β 3.1 nmol/L[2.0, 4.4]每常见等位基因）。母系和后代 rs1074657 和 rs613897 与脐带血 25（OH）D 无关。
结果
鉴定了 rs2282679（GC）和 rs12785878（DHCR7）与 rs2282679（GC）和 rs12785878（DHCR7）与脐带血 25（OH）D 之间的关联。当调整后代基因型时，母体基因型与 rs2282679（GC）和 rs12785878（DHCR7）之间存在关联，反之亦然（β[95%CI] 1.6 nmol/L[0.3, 2.8]每常见等位基因），以及后代 rs2282679（β 3.1 nmol/L[2.0, 4.4]每常见等位基因）。母系和后代 rs1074657 和 rs613897 与脐带血 25（OH）D 无关。
结论
维生素 D 代谢途径中的常见遗传变异与脐带血 25（OH）D 有关。
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