• 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

ABCB1基因C3435T多态性影响患阿尔茨海默病的风险。

ABCB1 C3435T polymorphism influences the risk for Alzheimer's disease.

作者信息

Fehér Ágnes, Juhász Anna, Pákáski Magdolna, Kálmán János, Janka Zoltán

机构信息

Department of Psychiatry, University of Szeged, 57 Kálvária Ave, Szeged, 6724, Hungary,

出版信息

J Mol Neurosci. 2014 Dec;54(4):826-9. doi: 10.1007/s12031-014-0427-z. Epub 2014 Oct 2.

DOI:10.1007/s12031-014-0427-z
PMID:25273678
Abstract

To evaluate the association of ATP-binding cassette subfamily B member 1 (ABCB1) genetic variants with the susceptibility to Alzheimer's disease (AD), we genotyped the rs1128503 (C1236T), rs2032582 (G2677T/A), and rs1045642 (C3435T) polymorphisms in a case-control sample (234 AD patients, 225 controls). Single-marker analyses revealed a significant association solely for the rs1045642 polymorphism (C/C genotype carriers had increased risk for AD), which remains significant after correction for multiple testing. Haplotype analyses indicated three nominally significant associations which were lost after applying multiple test correction.

摘要

为评估ATP结合盒亚家族B成员1(ABCB1)基因变异与阿尔茨海默病(AD)易感性之间的关联,我们对一个病例对照样本(234例AD患者,225例对照)中的rs1128503(C1236T)、rs2032582(G2677T/A)和rs1045642(C3435T)多态性进行了基因分型。单标记分析显示仅rs1045642多态性存在显著关联(C/C基因型携带者患AD的风险增加),在进行多重检验校正后该关联仍具有显著性。单倍型分析表明有三个名义上显著的关联,在应用多重检验校正后这些关联消失了。

相似文献

1
ABCB1 C3435T polymorphism influences the risk for Alzheimer's disease.ABCB1基因C3435T多态性影响患阿尔茨海默病的风险。
J Mol Neurosci. 2014 Dec;54(4):826-9. doi: 10.1007/s12031-014-0427-z. Epub 2014 Oct 2.
2
Roles of ABCB1 gene polymorphisms and haplotype in susceptibility to breast carcinoma risk and clinical outcomes.ABCB1 基因多态性和单倍型在乳腺癌易感性和临床结局中的作用。
J Cancer Res Clin Oncol. 2012 Sep;138(9):1449-62. doi: 10.1007/s00432-012-1209-z. Epub 2012 Apr 19.
3
Association between ABCB1 polymorphisms and haplotypes and Alzheimer's disease: a meta-analysis.ABCB1 多态性与单倍型与阿尔茨海默病的关联:一项荟萃分析。
Sci Rep. 2016 Sep 7;6:32708. doi: 10.1038/srep32708.
4
Effects of ABCB1 gene polymorphisms on autonomic nervous system activity during atypical antipsychotic treatment in schizophrenia.ABCB1 基因多态性对精神分裂症患者接受非典型抗精神病药物治疗期间自主神经系统活动的影响。
BMC Psychiatry. 2018 Jul 17;18(1):231. doi: 10.1186/s12888-018-1817-5.
5
Role of ABCB1 C1236T, G2677T, and C3435T genetic polymorphisms in the development of acute leukemia in a Chinese population.ABCB1基因C1236T、G2677T和C3435T基因多态性在中国人群急性白血病发生中的作用。
Genet Mol Res. 2016 Sep 2;15(3):gmr8546. doi: 10.4238/gmr.15038546.
6
ABCB1 C3435T, G2677T/A and C1236T variants have no effect in eslicarbazepine pharmacokinetics.ABCB1 C3435T、G2677T/A 和 C1236T 变异对依佐加滨药代动力学没有影响。
Biomed Pharmacother. 2021 Oct;142:112083. doi: 10.1016/j.biopha.2021.112083. Epub 2021 Aug 24.
7
ABCB1 genetic polymorphisms affect opioid requirement by altering function of the intestinal P-glycoprotein.ABCB1 基因多态性通过改变肠道 P-糖蛋白的功能影响阿片类药物的需求。
Biomed Pharmacother. 2024 Jul;176:116897. doi: 10.1016/j.biopha.2024.116897. Epub 2024 Jun 8.
8
Polymorphisms and Drug-Resistant Epilepsy in a Tunisian Population.多态性与药物难治性癫痫:来自突尼斯的人群研究
Dis Markers. 2019 Dec 2;2019:1343650. doi: 10.1155/2019/1343650. eCollection 2019.
9
Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever.三种ABCB1(MDR1)基因变异(C1236T、G2677A/T和C3435T)及其基因型/单倍型组合与家族性地中海热的关联分析
Xenobiotica. 2014 Oct;44(10):933-40. doi: 10.3109/00498254.2014.915071. Epub 2014 Apr 28.
10
Association between the functional polymorphism (C3435T) of the gene encoding P-glycoprotein (ABCB1) and major depressive disorder in the Japanese population.编码 P-糖蛋白(ABCB1)的基因的功能性多态性(C3435T)与日本人群中的重度抑郁症之间的关联。
J Psychiatr Res. 2012 Apr;46(4):555-9. doi: 10.1016/j.jpsychires.2012.01.012. Epub 2012 Feb 4.

引用本文的文献

1
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.ABCB1 中的双等位基因突变可导致反复出现的可逆性脑病。
Ann Clin Transl Neurol. 2020 Aug;7(8):1443-1449. doi: 10.1002/acn3.51125. Epub 2020 Jul 5.
2
Clinical and Genetic Risk Prediction of Cognitive Impairment After Blood or Marrow Transplantation for Hematologic Malignancy.血液或骨髓移植治疗血液恶性肿瘤后认知障碍的临床和遗传风险预测。
J Clin Oncol. 2020 Apr 20;38(12):1312-1321. doi: 10.1200/JCO.19.01085. Epub 2020 Feb 21.
3
Dysfunctional MDR-1 disrupts mitochondrial homeostasis in the oocyte and ovary.

本文引用的文献

1
Association of ATP-binding cassette transporter variants with the risk of Alzheimer's disease.载脂蛋白 E 基因多态性与阿尔茨海默病的相关性研究。
Pharmacogenomics. 2013 Apr;14(5):485-94. doi: 10.2217/pgs.13.18.
2
Blood-brain barrier P-glycoprotein function in healthy subjects and Alzheimer's disease patients: effect of polymorphisms in the ABCB1 gene.健康受试者和阿尔茨海默病患者的血脑屏障 P-糖蛋白功能:ABCB1 基因多态性的影响。
EJNMMI Res. 2012 Oct 16;2(1):57. doi: 10.1186/2191-219X-2-57.
3
ABC Transporters and the Alzheimer's Disease Enigma.
功能失调的 MDR-1 破坏卵母细胞和卵巢中的线粒体动态平衡。
Sci Rep. 2019 Jul 3;9(1):9616. doi: 10.1038/s41598-019-46025-x.
4
P-glycoprotein (ABCB1) and Oxidative Stress: Focus on Alzheimer's Disease.P-糖蛋白(ABCB1)与氧化应激:聚焦阿尔茨海默病。
Oxid Med Cell Longev. 2017;2017:7905486. doi: 10.1155/2017/7905486. Epub 2017 Nov 26.
5
Association between ABCB1 polymorphisms and haplotypes and Alzheimer's disease: a meta-analysis.ABCB1 多态性与单倍型与阿尔茨海默病的关联:一项荟萃分析。
Sci Rep. 2016 Sep 7;6:32708. doi: 10.1038/srep32708.
ABC转运蛋白与阿尔茨海默病之谜
Front Psychiatry. 2012 Jun 4;3:54. doi: 10.3389/fpsyt.2012.00054. eCollection 2012.
4
Gene expression profiling of peripheral blood leukocytes identifies and validates ABCB1 as a novel biomarker for Alzheimer's disease.外周血白细胞基因表达谱分析鉴定并验证 ABCB1 为阿尔茨海默病的新型生物标志物。
Neurobiol Dis. 2011 Sep;43(3):698-705. doi: 10.1016/j.nbd.2011.05.023. Epub 2011 Jun 6.
5
ABCB1 genotype and CSF beta-amyloid in Alzheimer disease.ABCB1 基因型与阿尔茨海默病患者脑脊液中的β-淀粉样蛋白。
J Geriatr Psychiatry Neurol. 2011 Jun;24(2):63-6. doi: 10.1177/0891988711402325. Epub 2011 Apr 8.
6
Genetic variability and haplotype profile of MDR1 (ABCB1) in Roma and Hungarian population samples with a review of the literature.罗马上和匈牙利人群样本中 MDR1(ABCB1)的遗传变异和单倍型谱,文献复习。
Drug Metab Pharmacokinet. 2011;26(2):206-15. doi: 10.2133/dmpk.dmpk-10-sc-068. Epub 2010 Dec 17.
7
Decreased clearance of CNS beta-amyloid in Alzheimer's disease.阿尔茨海默病患者中枢神经系统β-淀粉样蛋白清除减少。
Science. 2010 Dec 24;330(6012):1774. doi: 10.1126/science.1197623. Epub 2010 Dec 9.
8
An investigation into the role of P-glycoprotein in Alzheimer's disease lesion pathogenesis.探讨 P-糖蛋白在阿尔茨海默病病变发病机制中的作用。
Neurosci Lett. 2011 Jan 10;487(3):389-93. doi: 10.1016/j.neulet.2010.10.063. Epub 2010 Oct 31.
9
Serum amyloid beta peptides in patients with dementia and age-matched non-demented controls as detected by surface-enhanced laser desorption ionisation-time of flight mass spectrometry (SELDI-TOF MS).通过表面增强激光解吸电离飞行时间质谱(SELDI-TOF MS)检测痴呆患者及年龄匹配的非痴呆对照者血清淀粉样β肽。
Curr Clin Pharmacol. 2008 Sep;3(3):144-54. doi: 10.2174/157488408785747665.
10
Clinico-pathologic function of cerebral ABC transporters - implications for the pathogenesis of Alzheimer's disease.脑ABC转运蛋白的临床病理功能——对阿尔茨海默病发病机制的启示
Curr Alzheimer Res. 2008 Aug;5(4):396-405. doi: 10.2174/156720508785132262.