• 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

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.

作者信息

Hunt Karen A, Smyth Deborah J, Balschun Tobias, Ban Maria, Mistry Vanisha, Ahmad Tariq, Anand Vidya, Barrett Jeffrey C, Bhaw-Rosun Leena, Bockett Nicholas A, Brand Oliver J, Brouwer Elisabeth, Concannon Patrick, Cooper Jason D, Dias Kerith-Rae M, van Diemen Cleo C, Dubois Patrick C, Edkins Sarah, Fölster-Holst Regina, Fransen Karin, Glass David N, Heap Graham A R, Hofmann Sylvia, Huizinga Tom W J, Hunt Sarah, Langford Cordelia, Lee James, Mansfield John, Marrosu Maria Giovanna, Mathew Christopher G, Mein Charles A, Müller-Quernheim Joachim, Nutland Sarah, Onengut-Gumuscu Suna, Ouwehand Willem, Pearce Kerra, Prescott Natalie J, Posthumus Marcel D, Potter Simon, Rosati Giulio, Sambrook Jennifer, Satsangi Jack, Schreiber Stefan, Shtir Corina, Simmonds Matthew J, Sudman Marc, Thompson Susan D, Toes Rene, Trynka Gosia, Vyse Timothy J, Walker Neil M, Weidinger Stephan, Zhernakova Alexandra, Zoledziewska Magdalena, Weersma Rinse K, Gough Stephen C L, Sawcer Stephen, Wijmenga Cisca, Parkes Miles, Cucca Francesco, Franke Andre, Deloukas Panos, Rich Stephen S, Todd John A, van Heel David A

出版信息

Nat Genet. 2011 Dec 27;44(1):3-5. doi: 10.1038/ng.1037.

DOI:10.1038/ng.1037
PMID:22200769
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3287292/
Abstract
摘要

相似文献

1
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.在多达66924名欧洲血统个体中，罕见且具有功能的SIAE变体与自身免疫性疾病风险无关。
Nat Genet. 2011 Dec 27;44(1):3-5. doi: 10.1038/ng.1037.
2
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.唾液酸乙酰酯酶种系功能缺陷变异与自身免疫
Nature. 2010 Jul 8;466(7303):243-7. doi: 10.1038/nature09115. Epub 2010 Jun 16.
3
M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.M89V 唾液酸乙酰酯酶（SIAE）和该基因的所有其他非同义常见变异均具有正常的催化活性。
PLoS One. 2013;8(1):e53453. doi: 10.1371/journal.pone.0053453. Epub 2013 Jan 7.
4
The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.唾液酸乙酰酯酶功能缺陷性罕见种系变异在自身免疫性艾迪生病中的作用。
Eur J Endocrinol. 2012 Dec;167(6):825-8. doi: 10.1530/EJE-12-0579. Epub 2012 Sep 25.
5
A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.唾液酸乙酰酯酶（SIAE）基因中的错义单核苷酸多态性与抗PIT-1抗体综合征相关。
Endocr J. 2014;61(6):641-4. doi: 10.1507/endocrj.ej13-0539. Epub 2014 Apr 20.
6
Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.幼年特发性关节炎和原发性抗体缺陷中的罕见变异。
J Immunol Res. 2017;2017:1514294. doi: 10.1155/2017/1514294. Epub 2017 Aug 16.
7
Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population.汉族人群中SIAE基因罕见突变与类风湿关节炎之间无关联。
Genet Mol Res. 2015 Oct 30;14(4):14162-8. doi: 10.4238/2015.October.29.38.
8
Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.原发性胆汁性肝硬化与 CLEC16A、SOCS1、SPIB 和 SIAE 免疫调节基因变异的关联。
Genes Immun. 2012 Jun;13(4):328-35. doi: 10.1038/gene.2011.89. Epub 2012 Jan 19.
9
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.罕见自身免疫基因座编码区变异对遗传缺失的影响可以忽略不计。
Nature. 2013 Jun 13;498(7453):232-5. doi: 10.1038/nature12170. Epub 2013 May 22.
10
No evidence for rare pathological SIAE coding variants in patients with vitiligo.白癜风患者中无罕见病理性SIAE编码变异的证据。
Int J Dermatol. 2013 Aug;52(8):1019-21. doi: 10.1111/j.1365-4632.2011.05054.x. Epub 2012 Aug 22.

引用本文的文献

1
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.140214 名英国生物银行参与者中遗传性止血障碍的致病性和可能致病性变异的影响。
Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118.
2
Sialic acid O-acetylation: From biosynthesis to roles in health and disease.唾液酸 O-乙酰化：从生物合成到在健康和疾病中的作用。
J Biol Chem. 2021 Aug;297(2):100906. doi: 10.1016/j.jbc.2021.100906. Epub 2021 Jun 19.
3
Understanding experiments and research practices for reproducibility: an exploratory study.理解可重复性的实验与研究实践：一项探索性研究。
PeerJ. 2021 Apr 21;9:e11140. doi: 10.7717/peerj.11140. eCollection 2021.
4
Building a Population Representative Pediatric Biobank: Lessons Learned From the Greater Cincinnati Childhood Cohort.建立具有人群代表性的儿科生物样本库：从大辛辛那提儿童队列研究中吸取的经验教训。
Front Public Health. 2021 Jan 14;8:535116. doi: 10.3389/fpubh.2020.535116. eCollection 2020.
5
Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report.一名患有急性播散性脑脊髓炎、视神经炎和周期性发热综合征儿童的全外显子组测序：病例报告
J Med Case Rep. 2019 Dec 14;13(1):368. doi: 10.1186/s13256-019-2305-3.
6
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.全基因组测序鉴定了导致单基因系统性红斑狼疮的基因变异对遗传风险的复杂贡献。
Hum Genet. 2019 Feb;138(2):141-150. doi: 10.1007/s00439-018-01966-7. Epub 2019 Feb 1.
7
Rare variants of the 3'-5' DNA exonuclease in early onset small vessel stroke.早发性小血管性卒中中3'-5' DNA外切核酸酶的罕见变异体
Wellcome Open Res. 2017 Nov 2;2:106. doi: 10.12688/wellcomeopenres.12631.1. eCollection 2017.
8
Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.幼年特发性关节炎和原发性抗体缺陷中的罕见变异。
J Immunol Res. 2017;2017:1514294. doi: 10.1155/2017/1514294. Epub 2017 Aug 16.
9
NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk.NR1H3基因的p.Arg415Gln突变与多发性硬化症风险无关。
Neuron. 2016 Oct 19;92(2):333-335. doi: 10.1016/j.neuron.2016.09.052.
10
Techniques and Approaches to Genetic Analyses in Nephrological Disorders.肾脏疾病基因分析的技术与方法
J Pediatr Genet. 2016 Mar;5(1):2-14. doi: 10.1055/s-0035-1557108. Epub 2015 Aug 13.

本文引用的文献

1
Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs.1 型糖尿病遗传相互作用的检测：4422 对患病同胞对的连锁和分层分析。
Diabetes. 2011 Mar;60(3):1030-40. doi: 10.2337/db10-1195. Epub 2011 Jan 24.
2
A map of human genome variation from population-scale sequencing.人类基因组变异的图谱来自于基于人群的测序。
Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534.
3
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.唾液酸乙酰酯酶种系功能缺陷变异与自身免疫
Nature. 2010 Jul 8;466(7303):243-7. doi: 10.1038/nature09115. Epub 2010 Jun 16.
4
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.一项针对智力障碍中X染色体编码外显子的系统性大规模重测序筛查。
Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19.
5
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.参与抗病毒反应的基因IFIH1的罕见变异可预防1型糖尿病。
Science. 2009 Apr 17;324(5925):387-9. doi: 10.1126/science.1167728. Epub 2009 Mar 5.
6
Shared and distinct genetic variants in type 1 diabetes and celiac disease.1型糖尿病和乳糜泻中共同存在和独特的基因变异。
N Engl J Med. 2008 Dec 25;359(26):2767-77. doi: 10.1056/NEJMoa0807917. Epub 2008 Dec 10.
7
The future of genetic studies of complex human diseases.复杂人类疾病的基因研究的未来。
Science. 1996 Sep 13;273(5281):1516-7. doi: 10.1126/science.273.5281.1516.