Genome-wide methylation patterns in Marfan syndrome

Clinical Epigenetics

Table 4 CpG-sites with genome-wide significant association (p < 10^–6) with change in aortic diameter or aortic events

Aortic dilatation rate	CpG	CHR	Position	Strand	Gene	UCSC_CpG_Islands_Name	β value	SE	p value	Cardiovascular function
Aortic root	cg00702593	21	42,219,853	F	DSCAM	chr21: 42218489–42219222	− 2.32E+00	4.56E−01	9.58E−07	Congenital heart disease
Proximal des aorta	cg05230977	20	62,039,853	F	KCNQ2	chr20: 62037929–62038677	2.24E+00	4.25E−01	4.24E−07
Distal des aorta	cg17213304	5	78,364,769	R	DMGDH	chr5: 78365298–78365711	3.68E+00	7.15E−01	7.15E−07
Aorta at bifurcation	cg26033586	3	116,163,858	R	LSAMP					Smooth muscle cell development
										Coronary artery disease
Aorta at bifurcation	cg24219974	6	14,729,722	F
Aorta at bifurcation	cg16346212	7	83,824,255	R	SEMA3A					Congenital heart disease
										Smooth muscle cell development
Aorta at bifurcation	cg13713739	9	132,483,377	R	PRRX2	chr9:132481472–132481745				Congenital heart disease
										Malformation in aorta
Aortic events
Aortic events	cg05371909	1	156,426,550	R	MEF2D	chr1: 156426549–156427362	6.797315	1.2097795	1.92E−08	Smooth muscle cell development
Aortic events	cg04316429	2	218,844,202	R	TNS1	chr2: 218843460–218843742	− 3.894949	0.7743331	4.90E−07	Cardiac valve defects
Aortic events	cg20852788	4	119,676,722	F	SEC24D		2.192283	0.4360381	4.96E−07
Aortic events	cg17369115	6	9,476,450	F	LOC100506		− 3.724896	0.7524573	7.41E−07
Aortic events	cg02283151	14	100,110,845	F	HHIPL1	chr14: 100111120–100111906	− 8.5573	1.7356909	8.21E−07	Myocardial infarction Hypertension
										Coronary artery disease

ISSN: 1868-7083