• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

导致婴儿猝死综合征的基因变异:当前认知

Gene variants predisposing to SIDS: current knowledge.

作者信息

Opdal Siri H, Rognum Torleiv O

机构信息

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

出版信息

Forensic Sci Med Pathol. 2011 Mar;7(1):26-36. doi: 10.1007/s12024-010-9182-9. Epub 2010 Jul 11.

DOI:10.1007/s12024-010-9182-9
PMID:20623341
Abstract

Genetic risk factors play a role in sudden unexpected infant death; either as a cause of death, such as in cases with medium-chain acyl-coenzyme A dehydrogenase deficiency and cardiac arrest due to long QT syndrome, or as predisposing factors for sudden infant death syndrome (SIDS). Most likely genetic predisposition to SIDS represent a polygenic inheritance pattern leading to sudden death when combined with other risk factors, such as a vulnerable developmental stage of the central nervous system and/or the immune system, in addition to environmental risk factors, such as a common cold or prone sleeping position. Genes involved in the regulation of the immune system, cardiac function, the serotonergic network and brain function and development have so far emerged as the most important with respect to SIDS. The purpose of the present paper is to survey current knowledge on SIDS and possible genetic contributions.

摘要

遗传风险因素在婴儿猝死综合征中起作用;要么作为死因,如中链酰基辅酶A脱氢酶缺乏症和长QT综合征导致的心脏骤停病例,要么作为婴儿猝死综合征(SIDS)的易感因素。SIDS最可能的遗传易感性代表一种多基因遗传模式,当与其他风险因素(如中枢神经系统和/或免疫系统的脆弱发育阶段)以及环境风险因素(如普通感冒或俯卧睡眠姿势)相结合时,会导致猝死。迄今为止,参与免疫系统调节、心脏功能、血清素能网络以及脑功能和发育的基因在SIDS方面已被证明是最重要的。本文的目的是综述关于SIDS和可能的遗传贡献的当前知识。

相似文献

1
Gene variants predisposing to SIDS: current knowledge.导致婴儿猝死综合征的基因变异:当前认知
Forensic Sci Med Pathol. 2011 Mar;7(1):26-36. doi: 10.1007/s12024-010-9182-9. Epub 2010 Jul 11.
2
The sudden infant death syndrome gene: does it exist?婴儿猝死综合征基因:它存在吗?
Pediatrics. 2004 Oct;114(4):e506-12. doi: 10.1542/peds.2004-0683.
3
Aquaporin-1 and aquaporin-9 gene variations in sudden infant death syndrome.水通道蛋白-1 和水通道蛋白-9 基因变异与婴儿猝死综合征。
Int J Legal Med. 2021 May;135(3):719-725. doi: 10.1007/s00414-020-02493-9. Epub 2021 Jan 18.
4
Sudden Infant Death Syndrome: review of implicated genetic factors.婴儿猝死综合征:相关遗传因素综述
Am J Med Genet A. 2007 Apr 15;143A(8):771-88. doi: 10.1002/ajmg.a.31722.
5
Noncardiac genetic predisposition in sudden infant death syndrome.非心脏遗传性因素与婴儿猝死综合征。
Genet Med. 2019 Mar;21(3):641-649. doi: 10.1038/s41436-018-0131-4. Epub 2018 Aug 24.
6
IL-1 gene cluster polymorphisms and sudden infant death syndrome.IL-1 基因簇多态性与婴儿猝死综合征。
Hum Immunol. 2010 Apr;71(4):402-6. doi: 10.1016/j.humimm.2010.01.011. Epub 2010 Jan 29.
7
Explaining sudden infant death with cardiac arrhythmias: Complete exon sequencing of nine cardiac arrhythmia genes in Dutch SIDS cases highlights new and known DNA variants.解释伴心律失常的婴儿猝死:荷兰 SIDS 病例中九个心律失常基因的完整外显子测序突出了新的和已知的 DNA 变异。
Forensic Sci Int Genet. 2020 May;46:102266. doi: 10.1016/j.fsigen.2020.102266. Epub 2020 Feb 27.
8
The Genetics of Sudden Infant Death Syndrome-Towards a Gene Reference Resource.婴儿猝死综合征遗传学研究——迈向基因参考资源。
Genes (Basel). 2021 Feb 2;12(2):216. doi: 10.3390/genes12020216.
9
Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review.婴儿猝死综合征的尸检回顾和基因分析:一项 11 年的回顾。
Hum Pathol. 2013 Sep;44(9):1730-6. doi: 10.1016/j.humpath.2013.01.024. Epub 2013 Apr 25.
10
SCN1A variants associated with sudden infant death syndrome.与婴儿猝死综合征相关的 SCN1A 变异体。
Epilepsia. 2018 Apr;59(4):e56-e62. doi: 10.1111/epi.14055. Epub 2018 Mar 30.

引用本文的文献

1
The vicious spiral in Sudden Infant Death Syndrome.婴儿猝死综合征中的恶性循环。
Front Pediatr. 2025 Feb 11;13:1487000. doi: 10.3389/fped.2025.1487000. eCollection 2025.
2
Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study.婴儿长QT综合征和心脏异常的早期筛查:一项综合研究。
Clin Pract. 2024 May 31;14(3):1038-1053. doi: 10.3390/clinpract14030082.
3
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.使用全基因组测序检测到的导致婴儿猝死综合征的已知致病性基因突变体和新的候选基因。

本文引用的文献

1
Aquaporin-4 gene variation and sudden infant death syndrome.水通道蛋白-4 基因变异与婴儿猝死综合征。
Pediatr Res. 2010 Jul;68(1):48-51. doi: 10.1203/PDR.0b013e3181df4e7c.
2
A common FMO3 polymorphism may amplify the effect of nicotine exposure in sudden infant death syndrome (SIDS).常见的 FMO3 多态性可能会放大尼古丁暴露在婴儿猝死综合征 (SIDS) 中的作用。
Int J Legal Med. 2010 Jul;124(4):301-6. doi: 10.1007/s00414-010-0428-6. Epub 2010 Mar 3.
3
Brainstem serotonergic deficiency in sudden infant death syndrome.婴儿猝死综合征中的脑干 5-羟色胺能缺乏。
Am J Med Genet A. 2024 Nov;194(11):e63596. doi: 10.1002/ajmg.a.63596. Epub 2024 Jun 19.
4
Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark.丹麦死于婴儿猝死综合征儿童的兄弟姐妹患婴儿猝死综合征的风险。
JAMA Netw Open. 2023 Jan 3;6(1):e2252724. doi: 10.1001/jamanetworkopen.2022.52724.
5
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.十一号中央和外周化学感受器基因中的遗传变异与婴儿猝死综合征有关。
Pediatr Res. 2022 Oct;92(4):1026-1033. doi: 10.1038/s41390-021-01899-4. Epub 2022 Feb 1.
6
Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome.与婴儿猝死综合征相关基因的综合分析
Front Pediatr. 2021 Oct 15;9:742225. doi: 10.3389/fped.2021.742225. eCollection 2021.
7
A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.婴儿猝死病例分子尸检研究的系统评价
J Pediatr Genet. 2018 Dec;7(4):143-149. doi: 10.1055/s-0038-1668079. Epub 2018 Aug 18.
8
Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.南非比勒陀利亚法医学实验室对婴儿猝死病例石蜡包埋样本中SCN5A基因进行分析的可行性研究。
Forensic Sci Med Pathol. 2018 Sep;14(3):276-284. doi: 10.1007/s12024-018-9995-5. Epub 2018 Jun 16.
9
Infection: the neglected paradigm in SIDS research.感染:婴儿猝死综合征研究中被忽视的范式。
Arch Dis Child. 2017 Aug;102(8):767-772. doi: 10.1136/archdischild-2016-312327. Epub 2017 Jan 23.
10
Microbiome-Gut-Brain Axis: A Pathway for Improving Brainstem Serotonin Homeostasis and Successful Autoresuscitation in SIDS-A Novel Hypothesis.微生物群-肠道-脑轴:改善脑干血清素稳态及婴儿猝死综合征自主复苏成功的途径——一种新假说
Front Pediatr. 2017 Jan 6;4:136. doi: 10.3389/fped.2016.00136. eCollection 2016.
JAMA. 2010 Feb 3;303(5):430-7. doi: 10.1001/jama.2010.45.
4
Distribution of interleukin-1 receptor antagonist genotypes in sudden unexpected death in infancy (SUDI); unexplained SUDI have a higher frequency of allele 2.婴儿猝死综合征(SUDI)中白细胞介素-1 受体拮抗剂基因型的分布;原因不明的 SUDI 等位基因 2 的频率更高。
Ann Med. 2010;42(1):64-9. doi: 10.3109/07853890903325360.
5
IL-1 gene cluster polymorphisms and sudden infant death syndrome.IL-1 基因簇多态性与婴儿猝死综合征。
Hum Immunol. 2010 Apr;71(4):402-6. doi: 10.1016/j.humimm.2010.01.011. Epub 2010 Jan 29.
6
Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.在婴儿猝死综合征中发现的 Alpha1- 联蛋白突变导致晚期心脏钠电流增加。
Circ Arrhythm Electrophysiol. 2009 Dec;2(6):667-76. doi: 10.1161/CIRCEP.109.891440.
7
Cytokine gene polymorphisms and sudden infant death syndrome.细胞因子基因多态性与婴儿猝死综合征。
Acta Paediatr. 2010 Mar;99(3):384-8. doi: 10.1111/j.1651-2227.2009.01611.x. Epub 2009 Dec 1.
8
Impact of sodium/proton exchanger 3 gene variants on sudden infant death syndrome.钠离子/质子交换器 3 基因变异对婴儿猝死综合征的影响。
J Pediatr. 2010 Jan;156(1):44-48.e1. doi: 10.1016/j.jpeds.2009.07.018.
9
Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population.与血清素相关的 FEV 基因变异与婴儿猝死综合征有关,该变异在非裔美国人中是一种常见的多态性。
Pediatr Res. 2009 Dec;66(6):631-5. doi: 10.1203/PDR.0b013e3181bd5a31.
10
Copy number variations in three children with sudden infant death.三名猝死婴儿的拷贝数变异
Clin Genet. 2009 Jul;76(1):63-8. doi: 10.1111/j.1399-0004.2009.01161.x.