Understanding the Pathogenesis of Kawasaki Disease by Network and Pathway Analysis

Table 1

Candidate gene studies identified genes associated with KD.

Symbol	Region	Phenotype	Country	Reference
CD40	20q12-q13.2	KD	Taiwan	[20]
		CAL	Taiwan	[20]
CD209	19p13	KD	Taiwan	[21]
RETN	19p13.2	Incomplete KD	China	[22]
		KD	United States	[23]
		CAL	Japan	[24]
FCGR3B	1q23	IVIG nonresponse	United States	[23]
NOD1	7p15-p14	KD	Japan	[25]
NLRP1	17p13.2	KD	Japan	[25]
ITPKC	19q13.1	KD	Taiwan; Japan; China	[26–28]
		CAL	Japan	[29]
		IVIG nonresponse	Japan	[29]
TGFBR2	3p22	KD	European descent; Korea	[30, 31]
		CAL	European descent; Korea	[30, 31]
		IVIG nonresponse	European descent	[30]
		aortic root dilatation,	European descent	[30]
ABO	9q34.2	CAL	Japan	[32]
PELI1	2p13.3	CAL	Korea	[33]
SMAD3	15q22.33	KD	European descent; Taiwan	[30, 34]
		CAL	European descent	[30]
		IVIG nonresponse	European descent	[30]
		aortic root dilatation	European descent	[30]
TGFB2	1q41	KD	European descent; Taiwan	[30, 34]
		CAL	European descent	[30]
		IVIG nonresponse	European descent	[30]
		aortic root dilatation,	European descent	[30]
CASP3	4q34	CAL	Taiwan; Japan	[29, 35]
		IVIG nonresponse	Japan	[29]
ANGPT1	8q23.1	KD	Netherlands	[36]
VEGFA	6p12	KD	Netherlands; Taiwan; The Netherlands.	[36–38]
		CAL	Japan	[39]
MICB	6p21.3	KD	Taiwan	[40]
		CAL	Taiwan	[40]
MICA	6p21.33	KD	Taiwan	[40]
		CAL	Taiwan	[41]
BAG6	6p21.3	KD	Taiwan	[40, 42]
		CAA	Taiwan	[42]
MSH5	6p21.3	KD	Taiwan	[40]
VWA7	6p21.33	KD	Taiwan	[40]
FCGR2B	1q23	IVIG nonresponse	Pacific Northwest	[43]
IL10	1q31-q32	KD	Taiwan	[44, 45]
		CAL	China; Korea; Taiwan	[18, 46, 47]
CCL5	17q11.2-q12	CAL	India	[48]
TNFRSF1A	12p13.2	KD	China	[49]
CTLA4	2q33	CAL (particularly in female patients)	Taiwan	[50]
MMP3	11q22.3	CAL	Korea; US-UK, tested in Japan	[51, 52]
MMP12	11q22.3	CAL	US-UK, tested in Japan	[52]
FGB	4q28	CAL	China	[53]
CCL3L1	17q21.1	KD	USA; Japan	[54, 55]
		IVIG nonresponse	Japan	[55]
CCR5	3p21.31	KD	USA; The Netherlands (Dutch Caucasian); Korea	[54, 56, 57]
		CAL	Japan	[55]
		IVIG nonresponse	Japan	[55]
PRRC2A	6p21.3	KD	Taiwan	[42]
		CAL	Taiwan	[42]
ABHD16A	6p21.3	KD	Taiwan	[42]
		CAL	Taiwan	[42]
ITPR3	6p21	CAL	Taiwan	[58]
COL11A2	6p21.3	KD	Taiwan	[59]
		CAL	Taiwan	[59]
MBL2	10q11.2	KD	China; Japan	[60, 61]
		CAL	The Netherlands; The Netherlands	[62, 63]
		Arterial stiffness	China	[64]
MMP11	22q11.23	KD	Korea	[65]
MIF	22q11.23	CAL	Italy	[66]
IL1B	2q14	IVIG nonresponse	Taiwan	[17]
BTNL2	6p21.3	KD	Taiwan	[67]
		CAL	Taiwan	[67]
TPH2	12q21.1	CAL	Korea	[68]
PDCD1	2q37.3	KD	Korean	[69]
IL18	11q22.2-q22.3	KD	Taiwan	[70, 71]
HLA-E	6p21.3	KD	Taiwan	[72]
		CAL	Taiwan	[72]
TIMP4	3p25	CAL	Korea	[73]
HLA-G	6p21.3	KD	Korea	[74]
CRP	1q21-q23	KD	China	[75]
		Carotid stiffness and carotid intima-media thickness	China	[75]
TNF	6p21.3	KD	China	[75]
		CAL	white	[76]
		Intima-media thickness	China	[75]
		IVIG nonresponse	China	[46]
MMP13	11q22.3	CAL	Japan	[77]
HLA-B	6p21.3	KD	Korea	[78]
HLA-C	6p21.3	KD	Korea	[78]
CCR3	3p21.3	KD	Netherlands (Dutch Caucasian)	[56]
CCR2	3p21.31	KD	Netherlands (Dutch Caucasian)	[56]
TIMP2	17q25	CAL	Japan	[79]
ACE	17q23.3	KD	Taiwan; Korea	[80, 81]
		Coronary artery stenosis	Japan	[82, 83]
		Myocardial ischemia	Japan	[82]
PLA2G7	6p21.2-p12	IVIG nonresponse	Japan	[84]
IL1RN	2q14.2	KD	Taiwan	[85]
IL4	5q31.1	KD	USA	[86]
KDR	4q11-q12	CAL	Japan	[39]
CD40LG	Xq26	CAL: males affected	Japan	[87]
AGTR1	3q24	Coronary artery stenosis and myocardial ischemia	Japan	[82]
CD14	5q31.1	CAL	Japan	[88]
SLC11A1	2q35	KD	Japan	[89]
LTA	6p21.3	KD	white	[76]
MTHFR	1p36.3	CAL	Japan	[90]
HP	16q22.2	late diagnosis of KD	Taiwan	[90]

KD: kawasakidisease;CAL: coronary artery lesions; CAA: coronary artery aneurysms.