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重新探讨与新生儿猝死综合征 (SIDS) 相关的 NHE3 和 IL13 多态性。

Revisiting the association of sudden infant death syndrome (SIDS) with polymorphisms of NHE3 and IL13.

机构信息

Institute of Legal Medicine, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Gynaecology Research Unit, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

出版信息

Int J Legal Med. 2024 May;138(3):743-749. doi: 10.1007/s00414-023-03139-2. Epub 2023 Dec 13.

Abstract

OBJECTIVES

Disturbances of the central nervous system and immune system are thought to play a role in sudden infant death syndrome (SIDS). Dysregulated expression of sodium (Na)/hydrogen (H) exchanger 3 (NHE3) in the brainstem and of interleukin 13 (IL13) in the lungs has been observed in SIDS. An association of single-nucleotide polymorphisms (SNPs) in NHE3 and IL13 with SIDS has been proposed, but controversial results were reported. Therefore, there is a need to revisit the association of SNPs in NHE3 and IL13 with SIDS.

METHODS

Genotyping of rs71597645 (G1131A) and rs2247114 (C2405T) in NHE3 and rs20541 (+ 4464A/G) in IL13 was performed in 201 SIDS cases and 338 controls. A meta-analysis was performed after merging our data with previously published data (all from European populations).

RESULTS

Polymorphisms rs2247114 (NHE3) and rs20541 (IL13) were significantly associated with SIDS overall and in multiple subgroups, but no association was found for rs71597645 (NHE3). After combining our data with previously published data, a fixed-effect meta-analysis showed that rs2247114 in NHE3 retained a significant association with SIDS under a recessive model (OR 2.78, 95%CI 1.53 to 5.06; p = 0.0008).

CONCLUSION

Our findings suggest an association of NHE3 variant rs2247114 (C2405T), though not rs71597645 (NHE3), with SIDS. A potential role of rs20541 (IL13) still has to be elucidated. Especially NHE3 seems to be an interesting topic for future SIDS research.

摘要

目的

中枢神经系统和免疫系统的紊乱被认为在婴儿猝死综合征(SIDS)中起作用。在 SIDS 中观察到脑干中钠(Na)/氢(H)交换器 3(NHE3)的表达失调和肺中白细胞介素 13(IL13)。有人提出,NHE3 和 IL13 中的单核苷酸多态性(SNP)与 SIDS 有关,但报道的结果存在争议。因此,有必要重新研究 NHE3 和 IL13 中的 SNP 与 SIDS 的关联。

方法

对 201 例 SIDS 病例和 338 例对照进行 NHE3 的 rs71597645(G1131A)和 rs2247114(C2405T)以及 IL13 的 rs20541(+4464A/G)基因分型。合并我们的数据和以前发表的数据(均来自欧洲人群)后进行了荟萃分析。

结果

多态性 rs2247114(NHE3)和 rs20541(IL13)与 SIDS 总体和多个亚组显著相关,但 rs71597645(NHE3)未发现相关性。将我们的数据与以前发表的数据合并后,固定效应荟萃分析显示,NHE3 中的 rs2247114 以隐性模型仍与 SIDS 存在显著相关性(OR 2.78,95%CI 1.53-5.06;p=0.0008)。

结论

我们的研究结果表明,NHE3 变体 rs2247114(C2405T)与 SIDS 相关,尽管不是 rs71597645(NHE3)。rs20541(IL13)的潜在作用仍有待阐明。特别是 NHE3 似乎是未来 SIDS 研究的一个有趣课题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f1e/11003888/fd4d270a80e3/414_2023_3139_Fig1_HTML.jpg

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