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Table 1 List of different studies investigated on SNCA-intron1 methylation

From: Hypomethylation of intron1 of α-synuclein gene does not correlate with Parkinson’s disease

Author group Tissues studied Number CpG sites studied in intron1 Method Site specific change in methylation as compared to control Overall SNCA-intron-1 methylation Correlation with α-SYN
Jowaed et. al., 2010 [1] Post-mortem brain samples SNpc and cortex (n = 6 PD, n = 6 controls), putamen (n = 6 PD, n = 8 control) 23 CpG sites Bisulfite/Sanger sequencing SNpc and Putamen, hypomethylated Hypomethylated in SNpc, cortex and putamen Not studied
Matsumoto et al., 2010 [2] Post-mortem brain samples SN (n = 3 PD, n = 1 DLB, n = 3 control) , anterior cingulate cortex (n = 12 PD/DLB, n = 8 control), putamen (n = 7 PD/DLB, n = 4 control) 13 CpG sites (10th to 22nd as compared to ours) Bisulfite/Sanger sequencing Not studied Hypomethylated only in SN Not studied
De Boni et al., 2011 [3] Post-mortem brain samples SN (n = 10 LBD, n = 3 control), putamen (n = 15 LBD, control n = 6), cingulate gyrus (n = 15 LBD, n = 6 controls), temporal cortex (n = 15 LBD, n = 6 controls), cerebellum (n = 14 LBD, n = 6 controls) 19 CpG sites (2nd to 22nd (excepting 13th and 18th as compared to ours) Bisulfite/next-generation sequencing Putamen, hypermethylated in limbic and neocortical stages of LBD Hypermethylated in putamen in case of limbic stage of LBD. Other tissues no significant change Not studied
Desplats et al., 2011 [4] Post-mortem brain samples Frontal cortex (n = 4 PD, n = 4 DLB, n = 4 control) Gross methylation of Intron1 region Methylation sensitive PCR Not studied Hypomethylation Not studied
Richter et al., 2012 [5] PBMC Idiopathic PD (n = 43), monogenic PD (n = 3), controls (n = 37) 7 CpG sites (16th to 22nd as compared to ours) Bisulfite/pyrosequencing Not studied No significant change Not studied
Tan et al., 2014 [6] PBMC PD (n = 50), control (n = 49) 14 CpG sites (10th to 23rd as compared to ours) Bisulfite/Sanger sequencing hypomethylated Hypomethylated α-SYN expression increased with decreased methylation of intron1 in a small representative group of subjects
Song et al., 2014 [7] PBMC PD (n = 50), control (n = 50) 13 CpG sites (10th to 22nd as compared to ours) Bisulfite/pyrosequencing Non-significant decrease No significant difference Not studied
Ai et al., 2014 [8] PBMC PD (n = 100), control (n = 95) 23 CpG sites Bisulfite/Sanger sequencing hypomethylated Hypomethylation No difference in α-SYN expression between PD and control
Pihlstrom et al., 2015 [9] PBMC and post-mortem brain samples PBMC (n = 36 PD, n = 36 control), cortex (n = 12 PD, n = 12 control) Gross methylation of Intron1 region Methylation sensitive restriction digestion and quantitative PCR Not studied Hypomethylation in PBMC but no significant difference in post-mortem brain tissue No difference in α-SYN expression between PD and control
  1. PD Parkinson’s disease, SNpc Substantia nigra pars compacta, LBD Lewy body diseases, PBMC Peripheral blood mononuclear cells, Number of subjects are only related to SNCA-intron1 methylation studies