Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2
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DOI：
10.1002/bdra.20183
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发表时间：
2005-11-01
影响因子：
--
通讯作者：
Speer, MC
中科院分区：
文献类型：
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作者：
Deak, KL;Dickerson, ME;Speer, MC
背景：维生素A（视黄醇）以视黄酸（RA）的形式存在，对于人类胚胎的正常发育至关重要。对小鼠和斑马鱼的研究表明，视黄醇在发育中的脊髓中代谢，并且必须沿着前后轴保持精确的平衡。 RA 过多和缺乏都会影响形态发生，包括神经管闭合失败。方法：我们选择研究 5 个参与 RA 代谢或合成的基因、ALDH1A2、CYP26A1、CYP26B1、CRABP1 和 CRABP2，了解它们在人类神经管缺陷（如脊柱裂）发展中的作用。结果：使用等位基因和基因型单基因座进行关联分析测试显示脊柱裂风险与 ALDH1A2 基因的 3 个多态性之间存在显着关联；然而，我们没有发现显着的多位点关联的证据。结论：这些结果可能表明 ALDH1A2 的多态性可能影响人类腰骶部脊髓脊膜膨出的风险。
BACKGROUND: Vitamin A (retinol), in the form of retinoic acid (RA), is essential for normal development of the human embryo. Studies in the mouse and zebrafish have shown that retinol is metabolized in the developing spinal cord and must be maintained in a precise balance along the anteroposterior axis. Both excess and deficiency of RA can affect morphogenesis, including failures of neural tube closure.METHODS: We chose to investigate 5 genes involved in the metabolism or synthesis of RA, ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2, for their role in the development of human neural tube defects, such as spina bifida.RESULTS: An association analysis using both allelic and genotypic single-locus tests revealed a significant association between the risk for spina bifida and 3 polymorphisms in the gene ALDH1A2; however, we found no evidence of a significant multilocus association.CONCLUSIONS: These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans.