Uncoupling protein 2 polymorphisms as risk factors for NTDs.
Uncoupling protein 2 polymorphisms as risk factors for NTDs.
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DOI：
10.1002/bdra.20520
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发表时间：
2009-02
影响因子：
--
通讯作者：
Mills, James L.
中科院分区：
文献类型：
--
作者：
Mitchell, Adam;Pangilinan, Faith;VanderMeer, Julie;Molloy, Anne M.;Troendle, James;Conley, Mary;Kirke, Peadar N.;Scott, John M.;Brody, Lawrence C.;Mills, James L.
神经管缺陷的病因学涉及环境和遗传因素。叶酸摄入不足和肥胖是重要的环境风险因素。几种叶酸相关的遗传变异已被确定为风险因素;然而，关于遗传变异如何与肥胖女性中观察到的风险增加有关，我们知之甚少。解偶联蛋白2（UCP 2）是筛选NTD风险的有吸引力的候选者，因为它可能在肥胖以及能量代谢，2型糖尿病和活性氧调节中起作用。有趣的是，先前的一项研究发现，一种常见的UCP 2复合纯合基因型与NTD风险增加三倍相关。我们在爱尔兰NTD病例（N=169）、其母亲（N = 163）、其父亲（N= 167）和正常对照受试者（N=332）中评估了三种多态性（− 866 G>A、A55 V和3′UTR 45 bp插入/缺失）作为NTD的危险因素。等位基因和基因型频率没有显着差异时，比较NTD母亲，NTD父亲，或受影响的儿童对照组。此外，与对照组相比，先前报道的风险基因型（55 VV和3′UTR 45 bp缺失/缺失的组合纯合性）在任何NTD组中的频率都不高。在我们的爱尔兰研究人群中，UCP 2多态性不影响NTD风险。此外，该等位基因在其他人群中的患病率与爱尔兰的患病率相似，但远低于先前NTD研究中的报告，这表明先前发现与NTD相关可能是由于不具有代表性的研究样本。
Both environmental and genetic factors are involved in the etiology of neural tube defects (NTDs). Inadequate folate intake and obesity are important environmental risk factors. Several folate-related genetic variants have been identified as risk factors; however, little is known about how genetic variants relate to the increased risk seen in obese women. Uncoupling Protein 2 (UCP2) is an attractive candidate to screen for NTD risk because of its possible role in obesity as well as energy metabolism, type-2 diabetes, and the regulation of reactive oxygen species. Interestingly, a previous study found that a common UCP2 compound homozygous genotype was associated with a threefold increase in NTD risk. We evaluated three polymorphisms, −866G>A, A55V, and the 3′UTR 45bp insertion/deletion, as risk factors for NTDs in Irish NTD cases (N=169), their mothers (N=163), their fathers (N=167) and normal control subjects (N=332). Allele and genotype frequencies were not significantly different when comparing NTD mothers, NTD fathers, or affected children to controls. Additionally, the previously reported risk genotype (combined homozygosity of 55VV and 3′UTR 45bp deletion/deletion) was not present at a higher frequency in any NTD group when compared to controls. In our Irish study population, UCP2 polymorphisms do not influence NTD risk. Moreover, the prevalence of this allele in other populations was similar to the Irish prevalence but far lower than reported in the previous NTD study, suggesting that this previous finding of an association with NTDs might have been due to an unrepresentative study sample.
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