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CD14(C-260T)多态性与南澳大利亚大型队列中的婴儿猝死综合征(SIDS)无关。

CD14 (C-260T) polymorphism is not associated with sudden infant death syndrome (SIDS) in a large South Australian cohort.

机构信息

Department of Microbiology and Infectious Diseases, SA Pathology at the Women's & Children's Hospital, North Adelaide, SA 5005, Australia.

出版信息

Innate Immun. 2011 Feb;17(3):321-6. doi: 10.1177/1753425910369272. Epub 2010 May 14.

Abstract

Similarities have been drawn between models of endotoxic shock and gross and microscopic pathology observed in sudden infant death syndrome (SIDS) cases. Polymorphisms in genes that influence the expression of endotoxin receptors could affect the outcome of toxaemia, and could, therefore, play a role in SIDS. The CD14 gene promoter contains a single nucleotide polymorphism that affects the level of CD14 gene expression. The TT genotype of the CD14 (C-260T) polymorphism causes a significantly higher density of CD14 receptor expression on monocytes which makes the individual more sensitive to endotoxin than those with the wild-type (CC). This investigation was designed to determine whether SIDS infants have a higher frequency of the CD14 (C-260T) polymorphism compared with non-SIDS controls. One hundred and sixteen SIDS and 228 control infants were genotyped using PCR followed by restriction fragment length analysis of amplified product. Carriage of the TT or CT genotypes did not significantly differ between SIDS and control infants (P = 0.218 and 0.081, respectively). The frequencies observed in the control group were consistent with Hardy-Weinberg equilibrium and did not differ significantly from the published frequencies in Caucasian Australians. These results suggest that CD14 (C-260T) polymorphism is unlikely to be implicated in SIDS.

摘要

在暴发型婴儿猝死综合征(SIDS)病例中,人们发现其大体和显微镜病理学与内毒素休克模型存在相似之处。影响内毒素受体表达的基因多态性可能会影响毒血症的结果,因此,这些基因多态性可能在 SIDS 中发挥作用。CD14 基因启动子含有一个单核苷酸多态性,影响 CD14 基因表达水平。CD14(C-260T)多态性的 TT 基因型导致单核细胞上 CD14 受体表达密度显著升高,使个体对内毒素的敏感性高于野生型(CC)个体。本研究旨在确定 SIDS 婴儿与非 SIDS 对照组相比,是否具有更高频率的 CD14(C-260T)多态性。采用 PCR 后限制性片段长度分析扩增产物的方法对 116 例 SIDS 和 228 例对照婴儿进行 CD14(C-260T)多态性基因分型。SIDS 和对照组婴儿携带 TT 或 CT 基因型的频率无显著差异(P=0.218 和 0.081)。对照组中观察到的频率与哈迪-温伯格平衡一致,与高加索澳大利亚人发表的频率无显著差异。这些结果表明,CD14(C-260T)多态性不太可能与 SIDS 有关。

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