典型文献
Epigenome-wide DNA methylation study of whole blood in patients with sporadic amyotrophic lateral sclerosis
文献摘要：
Background::Epigenetics, and especially DNA methylation, contributes to the pathogenesis of sporadic amyotrophic lateral sclerosis (SALS). This study aimed to investigate the role of DNA methylation in SALS using whole blood of SALS patients.Methods::In total, 32 SALS patients and 32 healthy controls were enrolled in this study. DNA was isolated from whole blood collected from the participants. DNA methylation profiles were generated using Infinium MethylationEPIC BeadChip.Results::We identified 34 significant differentially methylated positions (DMPs) in whole blood from SALS patients, compared with the healthy controls. Of these DMPs, five were hypermethylated and 29 were hypomethylated; they corresponded to 13 genes. For the DMPs,
ATAD3B and BLK were hypermethylated, whereas DDO, IQCE, ABCB1,
DNAH9, FIGN, NRP1, TMEM87B, CCSAP, ST6GALNAC5, MYOM2, and
RUSC1-AS1 were hypomethylated. We also identified 12 differentially methylated regions (DMRs), related to 12 genes (NWD1,
LDHD, CIS, IQCE, TNF, PDE1C, LGALS1, CSNK1E, LRRC23, ENO2, ELOVL2, and
ELOVL2-AS1). According to data from the Kyoto Encyclopedia of Genes and Genomes database,
DNAH9 and
TNF are involved in the amyotrophic lateral sclerosis (ALS) pathway. Correlation analysis between clinical features and DNA methylation profiling indicated that the methylation level of
ELOVL2 and
ARID1B was positively associated with the age of onset (
r = 0.86, adjust
P = 0.001) and disease duration (
r = 0.83, adjust
P = 0.01), respectively.
Conclusions::We found aberrant methylation in DMP- and DMR-related genes, implying that many epigenetic alterations, such as the hypomethylation of
DNAH9 and
TNF, play important roles in ALS etiology. These findings can be helpful for developing new therapeutic interventions.
文献关键词：
Amyotrophic lateral sclerosis;DNA methylation;Differentially methylated positions;Differentially methylated regions;Whole blood
中图分类号：
作者姓名：
Cai Zhengyi;Jia Xinmiao;Liu Mingsheng;Yang Xunzhe;Cui Liying
作者机构：
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China;Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China;Neuroscience Center, Chinese Academy of Medical Sciences, Beijing 100730, China
文献出处：
引用格式：
[1]Cai Zhengyi;Jia Xinmiao;Liu Mingsheng;Yang Xunzhe;Cui Liying-.Epigenome-wide DNA methylation study of whole blood in patients with sporadic amyotrophic lateral sclerosis)[J].中华医学杂志（英文版）,2022(12):1466-1473
A类：
MethylationEPIC,hypomethylated,ATAD3B,DDO,IQCE,DNAH9,FIGN,TMEM87B,CCSAP,ST6GALNAC5,MYOM2,RUSC1,NWD1,LDHD,PDE1C,LRRC23,ELOVL2
B类：
Epigenome,wide,study,whole,blood,patients,sporadic,amyotrophic,lateral,sclerosis,Background,Epigenetics,especially,contributes,pathogenesis,SALS,This,aimed,investigate,using,Methods,total,healthy,controls,were,enrolled,this,was,isolated,from,collected,participants,profiles,generated,Infinium,BeadChip,Results,We,identified,significant,differentially,positions,DMPs,compared,Of,these,five,hypermethylated,they,corresponded,For,BLK,whereas,ABCB1,NRP1,AS1,also,regions,DMRs,related,CIS,LGALS1,CSNK1E,ENO2,According,Kyoto,Encyclopedia,Genes,Genomes,database,involved,pathway,Correlation,analysis,between,clinical,features,profiling,indicated,that,level,ARID1B,positively,associated,age,onset,adjust,disease,duration,respectively,Conclusions,found,aberrant,implying,many,epigenetic,alterations,such,hypomethylation,play,important,roles,etiology,These,findings,helpful,developing,new,therapeutic,interventions,Amyotrophic,Differentially,Whole
AB值：
0.443776
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