Promoter DNA methylation regulates progranulin expression and is altered in FTLD

Banzhaf-Strathmann, Julia; Claus, Rainer; Mücke, Oliver; Rentzsch, Kristin; van der Zee, Julie; Engelborghs, Sebastiaan; De Deyn, Peter P; Cruts, Marc; van Broeckhoven, Christine; Plass, Christoph; Edbauer, Dieter

doi:10.1186/2051-5960-1-16

Acta Neuropathologica Communications

Table 1 Pathological, clinical and genetic info of human brain samples used

From: Promoter DNA methylation regulates progranulin expression and is altered in FTLD

		Clinical info							Genetic info
Origin	Pathological diagnosis*¹	Clinical diagnosis	Sub-class	Gender	Age at onset	Age at death	Fam/Spor	Pathogenic Mutation	TMEM106B rs1990622²	GRN rs5848³	C9ORF72	SORT1⁴	RNA quality ok
VIB	Def. Control	N.A.	N.A.	m	N.A.	78.1	N.A.	N.A.	CT	CC	no	AG	yes
VIB	Def. Control	N.A.	N.A.	m	N.A.	66.3	N.A.	N.A.	CT	CC	no	AA	yes
VIB	Def. Control	N.A.	N.A.	m	N.A.	73.3	N.A.	N.A.	TT	TC	no	AA	yes
VIB	Def. Control	N.A.	N.A.	f	N.A.	62.7	N.A.	N.A.	TT	TC	no	AA	yes
VIB	Def. Control	N.A.	N.A.	m	N.A.	64.6	N.A.	N.A.	CT	TT	no	AG	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	77	N.A.	N.A.	CC	TC	no	AG	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	66	N.A.	N.A.	CT	CC	no	AG	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	54	N.A.	N.A.	TT	CC	no	AA	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	59	N.A.	N.A.	TT	TC	no	AG	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	55	N.A.	N.A.	CC	CC	no	AA	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	67	N.A.	N.A.	CT	TC	no	AA	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	78	N.A.	N.A.	CT	CC	no	AA	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	79	N.A.	N.A.	TT	TC	no	AG	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	50	N.A.	N.A.	TT	CC	no	AA	yes
MRC	Def. Control	N.A.	N.A.	m	N.A.	82	N.A.	N.A.	CT	CC	no	AG	yes
VIB	FTLD-TDP	MXD	N.A.	m	72	83	S	no	CT	CC	no	AA	yes
VIB	FTLD-TDP B	FTLD	FTD	m	47	50	F	no	CT	CC	no	AG	yes
VIB	FTLD-TDP	FTLD	prob AD	f	80	88	F	no	CT	TT	no	AA	yes
VIB	FTLD-TDP B	FTLD-ALS	FTD-ALS	m	59	62	S	no	CT	CT	no	AG	yes
VIB	FTLD-TDP D	FTLD	FTD	f	44	56	F-AD	VCP Arg159His⁵	TT	TC	no	AA	yes
VIB	FTLD-TDP D	FTLD	FTD	m	63	68	F-AD	VCP Arg159His⁵	CT	TT	no	AA	yes
VIB	FTLD-TDP A	FTLD	N.A.	f	62	68	F-AD	GRN IVS1 + 5G > C⁶	CT	TC	no	AA	yes
VIB	FTLD-TDP A	FTLD	N.A.	f	58	63	F-AD	GRN IVS1 + 5G > C⁶	TT	TC	no	AG	yes
VIB	FTLD-TDP A	FTLD	N.A.	m	57	62	F-AD	GRN IVS1 + 5G > C⁶	CT	TC	no	AG	yes
VIB	FTLD-TDP A	FTLD	FTD	f	69	75	F-AD	GRN IVS1 + 5G > C⁶	TT	TC	no	AA	yes
MRC	FTLD-TDP B	FTLD	FTD + MND	m	43	45	S	no	CT	CC	no	AG	yes
MRC	FTLD-TDP B	FTLD	FTD + MND	m	65	67	S	no	CC	CC	no	AG	yes
MRC	FTLD-TDP B	FTLD	FTD + MND	m	74	76	S	no	TT	TC	no	AG	no
MRC	FTLD-TDP B	FTLD	FTD	m	60	68	S	no	TT	CC	no	AA	yes
MRC	FTLD-TDP B	FTLD	FTD	m	45	51	S	no	CT	TT	no	AG	yes
MRC	FTLD-TDP B	FTLD	FTD	m	59	66	S	no	TT	CC	no	AA	yes
MRC	FTLD-TDP B	FTLD	FTD + MND	m	58	69	S	no	CC	CC	no	AA	yes
MRC	FTLD-TDP B	FTLD	FTD	m	58	66	S	no	CT	CC	no	AG	no
MRC	FTLD-TDP B	FTLD	FTD/SD	m	68	74	S	no	TT	CC	no	AA	yes
MRC	FTLD-TDP B	FTLD	MND	m	N.A.	71	S	N.A.	TT	TC	no	AA	no
VIB	AD-CAA	Prob AD		f	61	75	F	APP -369C/G⁷	CT	CC	no	AG	yes
VIB	AD	Prob AD		f	-	85	S	no	CT	TC	no	AA	no
VIB	AD	Prob AD		m	80	86	S	no	TT	TC	no	AG	yes
VIB	AD	Prob AD		m	87	91	U	no	CC	CC	no	AG	yes
VIB	AD	Prob AD		m	67	77	F	no	TT	TC	no	AG	yes
VIB	AD	Prob AD		f	64	79	S	no	CT	TT	no	AA	no
VIB	AD	Poss AD		m	<84	87	S	no	CT	CC	no	AA	yes
VIB	AD	Prob AD		f	50	57	F	PSEN1 P264L⁸	TT	TC	no	AA	yes
MRC	PD	PD		f	45	62	N.A.	N.A.	CC	CC	no	AA	yes
MRC	PD	Dementia		f	~84	89	N.A.	N.A.	CT	TC	no	AA	yes
MRC	PD	PD		f	~80	85	N.A.	N.A.	CC	CC	no	AG	yes
MRC	PD	PD		m	?	73	N.A.	N.A.	CC	CC	no	AG	yes
MRC	PD	?		m	?	76	N.A.	N.A.	CC	CC	no	AA	yes
MRC	PD	PD		f	76	80	N.A.	N.A.	CT	TC	no	AG	yes
MRC	PD	PD		m	66	79	N.A.	N.A.	CT	TC	no	AA	yes
MRC	PD	PD?/AD		m	82	84	N.A.	N.A.	CT	TC	no	AA	yes

* according to current classification criteria as proposed in [28],
¹ [29],
² [30],
³ [31],
⁴(van der Zee J. et al., unpublished data),
⁵ [32],
⁶ [10],
⁷ [33],
⁸ [34]
AD Alzheimer’s disease, ALS amyothropic lateral sclerosis, APP amyloid precursor protein, CAA Cerebral Amyloid Angiopathy, F familial, F-AD familial autosomal dominant, IVS splice donor site of intron 1 MND motorneuron disease, MRC Medical Research Council London Neurodegenerative Diseases Brain Bank, MXD mixed dementia, N.A. not applicable, PD Parkinson’s disease, Prob probably, Poss possibly, S sporadic, SD semantic dementia, PSEN1 presenilin 1, U unknown, VIB VIB Department of Molecular Genetics, Antwerp, Belgium.

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ISSN: 2051-5960

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