Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.
Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.
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DOI：
10.1002/ajmg.a.33583
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发表时间：
2011-06
影响因子：
2
通讯作者：
Ashley-Koch, Allison E.
中科院分区：
文献类型：
--
作者：
Swamy, Geeta K.;Garrett, Melanie E.;Miranda, Marie Lynn;Ashley-Koch, Allison E.
妊娠结果的种族差异是美国健康领域最显着且鲜为人知的不平等之一。遗传变异可能是影响非西班牙裔黑人（NHB）和非西班牙裔白人（NHW）女性不同出生结果的重要宿主因素。维生素 D 受体 (VDR) 基因中种族特异性等位基因频率表明其作为涉及健康差异的基因的潜力。健康怀孕、健康婴儿研究是一项前瞻性孕妇队列研究，旨在确定北卡罗来纳州达勒姆市妊娠结局差异的遗传、社会和环境因素。通过 Taqman 检测对 615 名女性进行了 VDR 单倍型标记 SNP 的基因分型。使用方差分析来检查母亲基因型和婴儿出生体重之间的关联。检查的 38 个 SNP 中有 8 个在 NHB 女性中显示出名义上的显着性，其中 1 个 VDR SNP (rs7975232) 超过了多重测试显着性阈值。 rs7975232 是一种匿名多态性，是与 mRNA 稳定性变异相关的 VDR 基因单倍型的一部分。 mRNA 稳定性会影响蛋白质的产生量，从而直接影响维生素 D 水平和钙稳态。与 NHB 相比，NHW 的任何 VDR SNP 与出生体重之间没有关联。导致出生结果差异的遗传因素预计不能完全用单个基因的变异来解释。尽管如此，我们的结果表明，母亲 VDR 基因多态性确实会影响出生体重，并且在不同种族群体中产生不同的影响。进一步研究确定孕妇 VDR 基因多态性的功能将提高我们对影响出生体重的潜在机制的理解。
Racial disparity in pregnancy outcomes is one of the most striking and poorly understood inequalities in American health. Genetic variability may be an important host factor influencing disparate birth outcomes between non-Hispanic black (NHB) and non-Hispanic white (NHW) women. Race-specific allelic frequencies in the vitamin D receptor (VDR) gene suggest its potential as a gene involved in health disparities. The Healthy Pregnancy, Healthy Baby Study is a prospective cohort of pregnant women aimed at identifying genetic, social, and environmental contributors to disparities in pregnancy outcomes in Durham, NC. VDR haplotype tagging SNPs were genotyped via Taqman assays for 615 women. Analysis of variance was used to examine the association between maternal genotype and infant birthweight. Eight of 38 SNPs examined showed nominal significance among NHB women, with one VDR SNP (rs7975232) surpassing the multiple testing significance threshold. rs7975232, an anonymous polymorphism, is part of a VDR gene haplotype associated with variation in mRNA stability. mRNA stability can affect the amount of protein produced, thus directly affecting vitamin D levels and calcium homeostasis. In contrast to NHBs, there was no association between any VDR SNP and birthweight for NHWs. Genetic factors contributing to disparities in birth outcomes are not expected to be explained entirely by variation in a single gene. Nevertheless, our results suggest that maternal VDR gene polymorphisms do influence birthweight with differential effects accruing across racial groups. Further research identifying the functionality of VDR gene polymorphisms in pregnant women will improve our understanding of the underlying mechanisms influencing birthweight.
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影响因子：
4.3
作者：
Agnihotri, B.;Antonisamy, B.;Priya, G.;Fall, C. H. D.;Raghupathy, P.
通讯作者：
Raghupathy, P.
影响因子：
6.8
作者：
Cavalier, Etienne;Delanaye, Pierre;Souberbielle, Jean-Claude
通讯作者：
Souberbielle, Jean-Claude
影响因子：
--
作者：
COCKBURN, F;BELTON, NR;POCOCK, SJ
通讯作者：
POCOCK, SJ
影响因子：
3.8
作者：
Li, J;Ji, L
通讯作者：
Ji, L
影响因子：
3.5
作者：
Finch, BK
通讯作者：
Finch, BK