Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy.
作者信息
De Sainte Agathe Jean-Madeleine, Leguern Eric
机构信息
Sorbonne Université, AP-HP Sorbonne Université, Department of Medical Genetics, Paris, France; Sorbonne Université, Paris, France; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
Sorbonne Université, AP-HP Sorbonne Université, Department of Medical Genetics, Paris, France; Sorbonne Université, Paris, France; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
出版信息
EBioMedicine. 2025 Jan;111:105505. doi: 10.1016/j.ebiom.2024.105505. Epub 2024 Dec 26.
Abstract
摘要
相似文献
1
Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy.多基因风险评分能拯救单基因疾病吗？以癫痫为例。
EBioMedicine. 2025 Jan;111:105505. doi: 10.1016/j.ebiom.2024.105505. Epub 2024 Dec 26.
2
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases.多基因风险评分作为一种可能的工具，用于识别复杂疾病的家族性单基因病因。
Genet Med. 2022 Jul;24(7):1545-1555. doi: 10.1016/j.gim.2022.03.022. Epub 2022 Apr 23.
3
Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.多基因与单基因高胆固醇血症对瑞舒伐他汀的反应性比较：一项倾向评分分析
Life (Basel). 2020 May 20;10(5):73. doi: 10.3390/life10050073.
4
Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.治疗性单基因家族性高胆固醇血症与多基因高胆固醇血症患者的动脉粥样硬化更严重。
Atherosclerosis. 2017 Aug;263:405-411. doi: 10.1016/j.atherosclerosis.2017.05.015. Epub 2017 May 13.
5
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.多基因和单基因低β脂蛋白血症表型差异。
Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):e63-e71. doi: 10.1161/ATVBAHA.120.315491. Epub 2020 Nov 19.
6
Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.单基因与多基因高胆固醇血症与动脉粥样硬化性心血管疾病风险的关联。
JAMA Cardiol. 2020 Apr 1;5(4):390-399. doi: 10.1001/jamacardio.2019.5954.
7
A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.1 型糖尿病遗传风险评分可区分具有糖尿病的单基因自身免疫与具有糖尿病的多基因自身免疫的早发聚集。
Diabetologia. 2018 Apr;61(4):862-869. doi: 10.1007/s00125-018-4551-0. Epub 2018 Feb 7.
8
Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia.单基因家族性高胆固醇血症与多基因家族性高胆固醇血症患者发生早发动脉粥样硬化性疾病的风险。
J Am Coll Cardiol. 2019 Jul 30;74(4):512-522. doi: 10.1016/j.jacc.2019.05.043.
9
Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India.全基因组多基因风险评分可预测印度单基因未确诊早发性帕金森病患者中的大量高危个体。
Adv Biol (Weinh). 2022 Nov;6(11):e2101326. doi: 10.1002/adbi.202101326. Epub 2022 Jul 10.
10
Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long-Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events.单基因与多基因高胆固醇血症的临床意义：长期治疗反应、冠状动脉粥样硬化负担和心血管事件。
J Am Heart Assoc. 2021 May 4;10(9):e018932. doi: 10.1161/JAHA.120.018932. Epub 2021 Apr 23.
本文引用的文献
1
Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.探讨多基因背景对“单基因”家族中癫痫表型的影响。
EBioMedicine. 2024 Nov;109:105404. doi: 10.1016/j.ebiom.2024.105404. Epub 2024 Oct 30.
2
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.GWAS 荟萃分析超过 29000 名癫痫患者，确定了 26 个风险基因座和亚型特异性遗传结构。
Nat Genet. 2023 Sep;55(9):1471-1482. doi: 10.1038/s41588-023-01485-w. Epub 2023 Aug 31.
3
The role of common genetic variation in presumed monogenic epilepsies.常见遗传变异在假定的单基因癫痫中的作用。
EBioMedicine. 2022 Jul;81:104098. doi: 10.1016/j.ebiom.2022.104098. Epub 2022 Jun 6.
4
Association of Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.热性惊厥附加症相关错义变异的关联性研究
Neurology. 2021 May 4;96(18):e2251-e2260. doi: 10.1212/WNL.0000000000011855. Epub 2021 Mar 23.
5
Tutorial: a guide to performing polygenic risk score analyses.教程：多基因风险评分分析操作指南。
Nat Protoc. 2020 Sep;15(9):2759-2772. doi: 10.1038/s41596-020-0353-1. Epub 2020 Jul 24.
6
Polygenic risk scores: from research tools to clinical instruments.多基因风险评分：从研究工具到临床工具。
Genome Med. 2020 May 18;12(1):44. doi: 10.1186/s13073-020-00742-5.
7
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.HCN1 中的新生突变导致早发性婴儿癫痫性脑病。
Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20.
8
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.癫痫中GABA(A)受体功能障碍的首个遗传学证据：γ2亚基基因突变
Nat Genet. 2001 May;28(1):46-8. doi: 10.1038/ng0501-46.
9
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.两个患有GEFS+2的家族中编码神经元钠通道的SCN1A发生突变。
Nat Genet. 2000 Apr;24(4):343-5. doi: 10.1038/74159.
10
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.热性惊厥和与钠离子通道β1亚基基因SCN1B突变相关的全身性癫痫。
Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252.
Zotero 插件