Sudden infant death:: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the β3-adrenergic receptor genes
Sudden infant death:: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the β3-adrenergic receptor genes
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DOI：
10.1007/s00431-002-0940-x
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发表时间：
2002-06-01
影响因子：
3.6
通讯作者：
Strobl, W
中科院分区：
文献类型：
--
作者：
Fatemi, A;Item, C;Strobl, W
热应激在婴儿猝死（SID）的病因学中起着重要作用。人解偶联蛋白-1（UCP-1），在棕色脂肪组织中表达，以热量形式耗散线粒体质子梯度，并在能量稳态和产热中发挥核心作用。UCP-1基因启动子区的一个常见的Bel I多态性与UCP-1脂肪组织mRNA减少和肥胖相关。此外，β 3-肾上腺素能受体基因（β 3-AR）Trp 64 Arg的常见序列变异与静息代谢率降低有关。为了确定UCP-1 Bel I多态性和/或β 3-AR的Trp 64 Arg变体是否与SID的发生相关，我们使用从古特里卡中提取的DNA，通过巢式PCR和限制性酶切确定了53名奥地利SID受害者和54名对照者中这些多态性的等位基因频率。我们发现，两种多态性的等位基因频率在SID组和对照组之间没有差异（在SID患者和对照组中，UCP-1 Bel I分别为0.65/0.35和0.72/0.28，β 3-AR Trp 64 Arg分别为0.89/0.11和0.93/0.07）。结论：我们的数据不支持婴儿猝死的发生与人类解偶联蛋白-1和β 3肾上腺素能受体基因中两种常见的功能多态性之间存在重大关联。
Thermal stress has been postulated to play a major role in the aetiology of sudden infant death (SID). The human uncoupling protein-1 (UCP-1), expressed in brown adipose tissue dissipates the transmitochondrial proton gradient as heat and plays a central role in energy homeostasis and thermogenesis. A common Bel I polymorphism in the promoter region of the UCP-1 gene is associated with reduced UCP-1 adipose tissue mRNA and obesity. In addition, a common sequence variation in the beta3-adrenergic receptor gene (beta3-AR), Trp64Arg, has been linked to a decreased resting metabolic rate. To determine whether the UCP-1 Bel I polymorphism and/or the Trp64Arg variant of beta3-AR are associated with the occurrence of SID, we determined the allele frequencies of these polymorphisms in 53 Austrian SID victims and 54 controls by nested PCR and restriction digestion using DNA extracted from Guthrie cards. We found that the allele frequencies of both polymorphisms did not differ between the SID and control groups (0.65/0.35 versus 0.72/0.28 for UCP-1 Bel I, and 0.89/0.11 versus 0.93/0.07 for beta3-AR Trp64Arg in SID victims versus controls, respectively). Conclusion: Our data do not support a major association between the occurrence of sudden infant death and two common functional polymorphisms in the human uncoupling protein-1 and beta3-adrenergic receptor genes.