阿尔茨海默病遗传学研究进展
摘要
基因遗传学是疾病发病机制研究的热点。阿尔茨海默病(AD)是年龄依赖性疾病,至今发病机制不明,且无特效治疗方法。分子生物学研究发现很多基因与AD的发病有关,但有些基因的作用存在争议。本文通过运用文献综述法,总结了近10年来有关文献报告,探讨AD发病基因遗传学的研究现状。
引文
[1]贾建平,王芬袁,泉秦伟,等.老年性痴呆早期的基因变异研究进展[J].生物化学与生物物理进展,2012,39:698-702.
[2]Xue J,Li J,Liang J.The Prevalence of Mild Cognitive Impairment in China:A Systematic Review[J].Aging Dis,2018,9:706-715.
[3]Petersen RC.Mild cognitive impairment as a diagnostic entity[J].JIntern Med,2004,256:183-194.
[4]安金,李小旋,任艳艳,等.河北省3个三级甲等医院阿尔兹海默病经济负担调查分析[J].临床合理用药杂志,2018,10:3-5.
[5]Reitz C.Genetic diagnosis and prognosis of Alzheimer’s disease:challenges and opportunities[J].Expert Rev Mol Diagn,2015,15:339-348.
[6]Guimas AC,Sadat MF,Perdigao C,et al.Impact of late-onset Alzheimer's genetic risk factors on beta-amyloid endocytic production[J].Cell Mol Life Sci,2018,75:2577-2589.
[7]Mehmedbasic A,Christensen SK,Nilsson J,et al.Sor LAComplement-type Repeat Domains Protect the Amyloid Precursor Protein against Processing[J].J Biol Chem,2015,290:3359-3376.
[8]Fagan AM,Perrin RJ.Upcoming candidate cerebrospinal fluid biomarkers of Alzheimer’s disease[J].Biomark Med,2012,6:455-476.
[9]高欣,于会艳,孙亮,等.SORL1基因rs2070045单核苷酸多态性与遗忘型轻度认知功能障碍的关联分析[J].卒中与神经疾病,2013,20:71-76.
[10]Jin C,Liu X,Zhang F,et al.An updated meta-analysis of the association between SORL1 variants and the risk for sporadic Alzheimer's disease[J].J Alzheimer’s Dis,2013,37:429-437.
[11]Andersen OM,Rudolph IM,Willnow TE.Risk factor SORL1:from genetic association to functional validation in Alzheimer’s disease[J].Acta Neuropathologica,2016,132:653-665.
[12]Tan MS,Yu JT,Tan L.Bridging integrator 1(BIN1):form,function,and Alzheimer's disease[J].Trends Mol Med,2013,19:594-603.
[13]Prokic I,Cowling BS,Laporte J.Amphiphysin 2(BIN1)in physiology and diseases[J].J Mol Med(Berl),2014,92:453-463.
[14]Harold D,Abraham R,Hollingworth P,et al.Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease[J].Nat Genet,2009,41:1088-1093.
[15]Wijsman EM,Pankratz ND,Choi Y,et al.Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE[J].PLo S Genet,20117:e1001308.
[16]Wang HF,Wan Y,Hao XK,et al.Bridging Integrator 1(BIN1)Genotypes Mediate Alzheimer's Disease Risk by Altering Neuronal Degeneration[J].J Alzheimers Dis,2016,52:179-190.
[17]张文青,郭宗君,王志宏,等.MCI和AD病人BIN1基因多态性与情景记忆能力关系[J].青岛大学医学院学报,2016,52:272-275,282.
[18]陈娟,夏燕,高成林,等.湖北恩施土家族地区遗忘型轻度认知障碍患者BIN1、Apo E基因多态性[J].中华医学杂志,2018,98:1322-1326.
[19]Chapuis J,Hansmannel F,Gistelinck M,et al.Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology[J]Mol Psychiatry,2013,18:1225-1234.
[20]Calafate S,Flavin W,Verstreken P,et al.Loss of Bin1 Promotes the Propagation of Tau Pathology[J].Cell Rep,2016,17:931-940.
[21]Meunier B,Quaranta M,Daviet L,et al.The membrane-tubulating potential of amphiphysin 2/BIN1 is dependent on the microtubule-binding cytoplasmic linker protein 170(CLIP-170)[J].Eur J Cell Biol,2009,88:91-102.
[22]Yu J,Tan L.The Role of Clusterin in Alzheimer’s Disease:Pathways Pathogenesis,and Therapy[J].Mol Neurobiol,2012,45:314-326.
[23]杜文津,陈晋文,陈大伟,等.聚集素基因多态性与Alzheimer病相关性的Meta分析[J].临床神经病学杂志,2012,25:3-7.
[24]郁金泰.CLU基因多态性与汉族人阿尔茨海默病的关联研究[D]中国海洋大学,2013.
[25]罗红玉,王丽霞,刘永磊,等.聚集素基因rs11136000位点多态性与白族人群晚发型阿尔茨海默病的关联研究[J].中华行为医学与脑科学杂志,2016,25:240-243.
[26]赵琼.CLU基因多态性与遗忘型轻度认知功能障碍患者神经网络的关联分析[D].东南大学,2016.
[27]彭莹娟,汤颖.阿尔茨海默病风险基因研究进展[J].中国预防医学杂志,2017,18:780-785.
[28]Harold D,Abraham R,Hollingworth P,et al.Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease[J].Nat Genet,2009,41:1088-1093.
[29]Zhao Z,Sagare AP,Ma Q,et al.Central role for PICALM in amyloid-beta blood-brain barrier transcytosis and clearance[J].Nat Neurosci,2015,18:978-987.
[30]Parikh I,Fardo DW,Estus S.Genetics of PICALM Expression and Alzheimer's Disease[J].PLOS ONE,2014,9:e91242.
[31]毛彩霞,孙芙蓉,郁金泰,等.磷脂酰肌醇结合网格蛋白组装蛋白基因rs3851179G/A多态性与阿尔茨海默病的相关性研究[J].中国临床神经科学,2010,18:468-473.
[32]丁一.PICALM基因对广西红水河流域长寿群体认知衰老的影响及其机制的初步探讨[D].广西医科大学,2017.
[33]王丽霞.大理地区不同民族阿尔茨海默病与PICALM基因RS541458和RS3851179多态性的相关性研究[D].大理学院,2015.
[34]Zhao Z,Sagare AP,Ma Q,et al.Central role for PICALM in amyloid-beta blood-brain barrier transcytosis and clearance[J].Nat Neurosci,2015,7:978-987.
[35]Thomas RS,Henson A,Gerrish A,et al.Decreasing the expression of PICALM reduces endocytosis and the activity of beta-secretase:implications for Alzheimer's disease[J].BMC Neurosci,2016,17:50.
[2]Xue J,Li J,Liang J.The Prevalence of Mild Cognitive Impairment in China:A Systematic Review[J].Aging Dis,2018,9:706-715.
[3]Petersen RC.Mild cognitive impairment as a diagnostic entity[J].JIntern Med,2004,256:183-194.
[4]安金,李小旋,任艳艳,等.河北省3个三级甲等医院阿尔兹海默病经济负担调查分析[J].临床合理用药杂志,2018,10:3-5.
[5]Reitz C.Genetic diagnosis and prognosis of Alzheimer’s disease:challenges and opportunities[J].Expert Rev Mol Diagn,2015,15:339-348.
[6]Guimas AC,Sadat MF,Perdigao C,et al.Impact of late-onset Alzheimer's genetic risk factors on beta-amyloid endocytic production[J].Cell Mol Life Sci,2018,75:2577-2589.
[7]Mehmedbasic A,Christensen SK,Nilsson J,et al.Sor LAComplement-type Repeat Domains Protect the Amyloid Precursor Protein against Processing[J].J Biol Chem,2015,290:3359-3376.
[8]Fagan AM,Perrin RJ.Upcoming candidate cerebrospinal fluid biomarkers of Alzheimer’s disease[J].Biomark Med,2012,6:455-476.
[9]高欣,于会艳,孙亮,等.SORL1基因rs2070045单核苷酸多态性与遗忘型轻度认知功能障碍的关联分析[J].卒中与神经疾病,2013,20:71-76.
[10]Jin C,Liu X,Zhang F,et al.An updated meta-analysis of the association between SORL1 variants and the risk for sporadic Alzheimer's disease[J].J Alzheimer’s Dis,2013,37:429-437.
[11]Andersen OM,Rudolph IM,Willnow TE.Risk factor SORL1:from genetic association to functional validation in Alzheimer’s disease[J].Acta Neuropathologica,2016,132:653-665.
[12]Tan MS,Yu JT,Tan L.Bridging integrator 1(BIN1):form,function,and Alzheimer's disease[J].Trends Mol Med,2013,19:594-603.
[13]Prokic I,Cowling BS,Laporte J.Amphiphysin 2(BIN1)in physiology and diseases[J].J Mol Med(Berl),2014,92:453-463.
[14]Harold D,Abraham R,Hollingworth P,et al.Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease[J].Nat Genet,2009,41:1088-1093.
[15]Wijsman EM,Pankratz ND,Choi Y,et al.Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE[J].PLo S Genet,20117:e1001308.
[16]Wang HF,Wan Y,Hao XK,et al.Bridging Integrator 1(BIN1)Genotypes Mediate Alzheimer's Disease Risk by Altering Neuronal Degeneration[J].J Alzheimers Dis,2016,52:179-190.
[17]张文青,郭宗君,王志宏,等.MCI和AD病人BIN1基因多态性与情景记忆能力关系[J].青岛大学医学院学报,2016,52:272-275,282.
[18]陈娟,夏燕,高成林,等.湖北恩施土家族地区遗忘型轻度认知障碍患者BIN1、Apo E基因多态性[J].中华医学杂志,2018,98:1322-1326.
[19]Chapuis J,Hansmannel F,Gistelinck M,et al.Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology[J]Mol Psychiatry,2013,18:1225-1234.
[20]Calafate S,Flavin W,Verstreken P,et al.Loss of Bin1 Promotes the Propagation of Tau Pathology[J].Cell Rep,2016,17:931-940.
[21]Meunier B,Quaranta M,Daviet L,et al.The membrane-tubulating potential of amphiphysin 2/BIN1 is dependent on the microtubule-binding cytoplasmic linker protein 170(CLIP-170)[J].Eur J Cell Biol,2009,88:91-102.
[22]Yu J,Tan L.The Role of Clusterin in Alzheimer’s Disease:Pathways Pathogenesis,and Therapy[J].Mol Neurobiol,2012,45:314-326.
[23]杜文津,陈晋文,陈大伟,等.聚集素基因多态性与Alzheimer病相关性的Meta分析[J].临床神经病学杂志,2012,25:3-7.
[24]郁金泰.CLU基因多态性与汉族人阿尔茨海默病的关联研究[D]中国海洋大学,2013.
[25]罗红玉,王丽霞,刘永磊,等.聚集素基因rs11136000位点多态性与白族人群晚发型阿尔茨海默病的关联研究[J].中华行为医学与脑科学杂志,2016,25:240-243.
[26]赵琼.CLU基因多态性与遗忘型轻度认知功能障碍患者神经网络的关联分析[D].东南大学,2016.
[27]彭莹娟,汤颖.阿尔茨海默病风险基因研究进展[J].中国预防医学杂志,2017,18:780-785.
[28]Harold D,Abraham R,Hollingworth P,et al.Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease[J].Nat Genet,2009,41:1088-1093.
[29]Zhao Z,Sagare AP,Ma Q,et al.Central role for PICALM in amyloid-beta blood-brain barrier transcytosis and clearance[J].Nat Neurosci,2015,18:978-987.
[30]Parikh I,Fardo DW,Estus S.Genetics of PICALM Expression and Alzheimer's Disease[J].PLOS ONE,2014,9:e91242.
[31]毛彩霞,孙芙蓉,郁金泰,等.磷脂酰肌醇结合网格蛋白组装蛋白基因rs3851179G/A多态性与阿尔茨海默病的相关性研究[J].中国临床神经科学,2010,18:468-473.
[32]丁一.PICALM基因对广西红水河流域长寿群体认知衰老的影响及其机制的初步探讨[D].广西医科大学,2017.
[33]王丽霞.大理地区不同民族阿尔茨海默病与PICALM基因RS541458和RS3851179多态性的相关性研究[D].大理学院,2015.
[34]Zhao Z,Sagare AP,Ma Q,et al.Central role for PICALM in amyloid-beta blood-brain barrier transcytosis and clearance[J].Nat Neurosci,2015,7:978-987.
[35]Thomas RS,Henson A,Gerrish A,et al.Decreasing the expression of PICALM reduces endocytosis and the activity of beta-secretase:implications for Alzheimer's disease[J].BMC Neurosci,2016,17:50.