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IL-1 基因簇多态性与婴儿猝死综合征。

IL-1 gene cluster polymorphisms and sudden infant death syndrome.

机构信息

Institute of Forensic Medicine, Rikshospitalet, University of Oslo, Oslo, Norway.

出版信息

Hum Immunol. 2010 Apr;71(4):402-6. doi: 10.1016/j.humimm.2010.01.011. Epub 2010 Jan 29.

DOI:10.1016/j.humimm.2010.01.011
PMID:20080142
Abstract

Several studies indicate that interleukin gene polymorphisms are of importance to sudden infant death syndrome (SIDS), and so far it has been reported that associations between SIDS and polymorphism in the genes encoding tumor necrosis factor alpha, IL (interleukin)-6, and IL-10. IL-1 are important for the synthesis of acute phase proteins, and it is a pyrogen cytokine that may cause fever. The purpose of the present study was to investigate two polymorphisms in the IL-1alpha gene; a variable number of tandem repeat (VNTR) in intron 6 and a single nucleotide polymorphism in +4845G/T, as well as the -511C/T polymorphism in the gene encoding IL-1beta, and a VNTR in intron 2 of the competitive antagonist IL-1Ra, in SIDS cases, cases of infectious death, and controls. Furthermore, the genotypes were correlated with known external risk factors for SIDS. When investigating each polymorphism separately, no differences in genotype distribution between the diagnosis groups and controls were found. However, when combining VNTR and single nucleotide polymorphism genotypes, an association between the gene combination IL-1alpha VNTR A1A1/IL-1beta+ +4845TT and SIDS was disclosed (p < 0.01). In the SIDS group it was also found that the genotypes IL-1beta -511CC/CT were significantly more frequent in the SIDS victims found dead in a prone sleeping position, compared with SIDS victims found dead in other sleeping positions (p = 0.004). The findings in the present study indicate that specific interleukin gene variants may be a predisposing factor for sudden unexpected infant death.

摘要

几项研究表明白细胞介素基因多态性对婴儿猝死综合征(SIDS)很重要,到目前为止,已经有报道称 SIDS 与编码肿瘤坏死因子-α、白细胞介素(IL)-6 和 IL-10 的基因多态性之间存在关联。IL-1 对于急性期蛋白的合成很重要,它是一种发热细胞因子,可能导致发热。本研究的目的是研究白细胞介素-1α基因中的两个多态性;内含子 6 中的可变数目的串联重复(VNTR)和 +4845G/T 的单核苷酸多态性,以及编码白细胞介素-1β的基因中的-511C/T 多态性,以及白细胞介素-1 拮抗剂 IL-1Ra 基因中的内含子 2 的 VNTR,在 SIDS 病例、感染性死亡病例和对照组中进行研究。此外,还将基因型与已知的 SIDS 外部危险因素相关联。当分别研究每种多态性时,在诊断组和对照组之间未发现基因型分布的差异。然而,当结合 VNTR 和单核苷酸多态性基因型时,发现基因组合 IL-1αVNTR A1A1/IL-1β+ +4845TT 与 SIDS 之间存在关联(p <0.01)。在 SIDS 组中还发现,与在其他睡眠姿势中死亡的 SIDS 受害者相比,在俯卧睡眠中死亡的 SIDS 受害者中,白细胞介素-1β-511CC/CT 基因型明显更为常见(p = 0.004)。本研究的结果表明,特定的白细胞介素基因变体可能是婴儿猝死的易患因素。

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