Table 2. Information about 10 common significantly different methylated CpG sites or genes associated with these CpG sites.

Gene/CpG site	Annotated region	Genomic location	Average β-value (I group controls)	Average β-value (I group patients)	Adjusted P-value (I group)	Average β-value (II group controls)	Average β-value (II group patients)	Adjusted P-value (II group)
CDK2AP1	TSS1500	chr12:123757860	0.39	0.193	1.24E–02	0.396	0.113	1.80E–08
SLC23A2	5′UTR	chr20:4983091	0.922	0.661	2.39E–03	0.809	0.642	3.66E–04
RPL9/LIAS	TSS1500	chr4:39460490	0.816	0.0485	5.80E–07	0.557	0.215	2.53E–06
CHML/OPN3	TSS1500	chr1:241800323	0.946	0.615	4.09E–05	0.752	0.682	5.82E–04
cg05712748	Genomic	chr1:43472312	0.942	0.572	2.01E–07	0.716	0.505	3.79E–03
cg02397061	Genomic	chr6:42528725	0.957	0.932	3.11E–02	0.957	0.931	2.21E–02
C13orf16	Body	chr13:111980537	0.541	0.364	1.72E–02	0.517	0.114	1.51E–02
CYTSB	Body	chr17:20006054	0.958	0.932	3.59E–02	0.933	0.912	3.98E–02
ARHGAP22	3′UTR	chr10:49654342	0.277	0.521	3.01E–08	0.141	0.619	8.75E–05
cg12738248	Genomic	chr7:5156928	0.55	0.754	6.63E–06	0.582	0.801	3.14E–03

Annotated region: region where the site is located.

TSS1500=1500-bp upstream of transcription start site (TSS). I group includes SMA patients with severe form of disease and their corresponding controls. II group includes SMA patients with mild form of disease and their corresponding controls.