Table 3.

Meta-analysis EWAS of HDGEC status in human blood.

Chr.	CpG	bp	CpG island	Gene	Gene location	Meta p	Meta Z
4	cg22982173	3,076,557	Island	HTT	First exon	6.5 × 10−26	10.53
17	cg26892702	7,132,489		DVL2	Body	5.3 × 10−10	−6.21
3	cg23819669	128,187,274		DNAJB8	TSS1500	4.2 × 10−9	−5.88
2	cg19759282	175,351,649	Island	GPR155	5′-UTR; 1st exon	4.4 × 10−9	5.87
13	cg16739503	114,862,324	S_Shore	RASA3	Body	6.5 × 10−9	−5.8
10	cg20684718	13,248,241		MCM10	Body	1.4 × 10−8	−5.68
12	cg04605980	117,471,700				1.8 × 10−8	−5.63
11	cg06993329	886,695	N_Shore	CHID1	Body	1.9 × 10−8	−5.63
17	cg04683330	80,041,239	Island	FASN	Body	1.9 × 10−8	−5.62
12	cg16320626	121,877,851	N_Shelf	KDM2B	Body	2.1 × 10−8	−5.6
3	ch.3.753362Ra	37,048,044		MLH1	5′-UTR; body	2.4 × 10−8	5.58
16	cg09080920	928,338	Island	LMF1	Body	2.5 × 10−8	−5.57
22	cg14703589	31,644,558		LIMK2	First exon; 5′-UTR; body	2.6 × 10−8	−5.57
12	cg17859634	124,798,815	Island	FAM101A	Body	3.4 × 10−8	−5.52
14	cg04285477	74,194,516		C14orf43	Body	3.6 × 10−8	−5.51
17	cg23148992	3,558,246		CTNS	Body	4.1 × 10−8	−5.49
19	cg08117431	5,455,497	Island	ZNRF4	5′-UTR; 1st exon	4.2 × 10−−8	−5.48
2	cg15115604	241,069,379	Island	MYEOV2	Body	5.0 × 10−8	−5.45
14	cg10929299	50,334,860				5.1 × 10−8	5.45
19	cg10585870	14,530,314	Island	DDX39	TSS200	5.6 × 10−8	5.43
11	cg15746396	13,485,203	Island	BTBD10	TSS1500	6.2 × 10−8	5.41
7	cg14640310	44,058,913	Island	POLR2J4	TSS200	6.9 × 10−8	5.39
2	cg22296756	240,305,369		HDAC4	5′-UTR	6.9 × 10−8	−5.39
19	cg11543665	8,373,294	Island	CD320	TSS201	6.9 × 10−8	5.39
2	cg05054944	25,856,333		DTNB	Body	7.2 × 10−8	−5.39
16	cg00284420	87,311,948				7.5 × 10−8	−5.38
17	cg24965497	7,227,181	N_Shore	NEURL4	Body	7.6 × 10−8	−5.38
4	cg13731523	3,047,190	S_Shelf			8.0 × 10−8	−5.37
17	cg14517001	80,179,931	Island			8.2 × 10−8	−5.36
19	cg20635595	48,281,627	Island	SEPW1	TSS1500	8.4 × 10−8	5.36
11	cg16356630	14,683,035		PDE3B	Body	8.7 × 10−8	−5.35
4	cg01200289	77,227,751	Island	STBD1	First exon; 5′-UTR	9.0 × 10−8	5.35
12	cg11881599	92,814,084		CLLU1OS	3′-UTR; TSS1500	9.2 × 10−8	5.34

The table reports 33 genome-wide significant CpGs (meta-analysis p value <10⁻⁷). A positive (negative) value of the meta-analysis Z statistic indicates that the CpG is hypermethylated (hypomethylated) in human HDGECs. In this case–control study, we did not distinguish pre-manifest from manifest HD. The Z statistic is based on Stouffer’s meta-analysis method across the aggregated Enroll-HD samples and the Registry-HD data. Columns report the chromosome, CpG, position (hg19 assembly), the relative location to the nearest CpG island, nearest gene, location of the CpG with respect to the gene, meta-analysis (unadjusted, two-sided) p value, and Z statistic.

^aThe unusual probe name “ch.3.753362R” reflects a CpH probe (CA, CC, CT) as opposed to a CpG probe, which targets the reverse strand on chromosome 3 (hg19 coordinate 753362).