Genetics of coronary artery disease and myocardial infarction

Table 4 Genetic variants associated with the risk of in-stent restenosis

Chr locations	Gene symbols	Genetic polymorphisms	Effects on risk of ISR	Pathway involved	Ref.
1p36.3	MTHFR	C677T	↑ ISR	Metabolism	[188]
1q32.1	IL10	G(-2849)A; G(-1082)A; A4259G	↑ ISR	Inflammation	[189]
1p35.1	CX37	C1019T	↑ ISR in men	Inflammation	[190,191]
2q14	IL 1B	C(-511)T	↑ ISR	Inflammation	[192]
2q14.2	IL-1RN	T8006C	↓ ISR	Inflammation	[154]
3p21.3	GPx-1	C599T (rs1050450)	↑ ISR	Thrombosis	[193]
		rs8179164 A>T	↑ ISR		[194]
3p24	KAT2B	rs6776870 G>C; rs2929404 T>C; rs17796904 T>C; rs4858767 G>C	↑ ISR	Epigenetic/gene expression	[194]
3q24	AGTR1	rs5182 T>C	↑ ISR	Vascular homeostasis	[194]
3q24	P2RY12	P2Y12 Haplotype H1 (5 P2Y12 ht-SNPs)	↑ ISR	Thrombosis	[195]
3q27	Adiponectin	T(+45)G rs2242766	↑ ISR	Inflammation	[196]
4q13	IL-8	A(-251)T + C(781)T	↑ ISRS	Inflammation	[197]
4q28	FGB	rs1044291 T>C	↑ ISR	Thrombosis	[194]
5q12	CCNB1	rs350099 C>T (TT); rs350104 T>C (CC); rs164390 T>G (GG); TT/CC/GG haplotype	↑ ISR	Cell cycling	[198]
			↑↑ ISR
5q31.1	CD14	C(-260)T	↑ ISR	Inflammation	[199]
5q34	miRNA-146a	rs2910164>G (G/C)	↑ ISR	Inflammation	[200]
		rs2910164>G (C/C)	↓ ISR
6p21.3	TNFα	T (-857)C +C(-1031)T	↑ ISR	Inflammation	[201]
6p21.3	RAGE	T(-374)A	↓ ISR	Inflammation	[202]
6q25.1	αER	PvuII (C/T) > (TT)	↑ ISR in women	Cell cycling	[203]
7q22.1	PAI-1	5G/5G	↑ ISR (smoker)	Thrombosis	[204]
			↓ ISR (nonsmoker)
7q36.1	eNOS	298C/T (p. Glu298Asp)(rs1799983>T); T(-786)C	↑ ISR	Cell proliferation	[193,205,206]
11q22.3	MMP12	rs12808148 C>T; rs17099726 G>T	↑ ISR	Matrix deposition	[194]
11q22.2	IL-18	G(-137)T	↑ ISR	Inflammation	[207]
11q13.4	UPC3	C(-55C)T	↑ ISR	Metabolism	[208]
12p13.1	p27kip1	(-838)AA	↓ ISR	Cell cycling	[209]
12q13.11	VDR	Block 2 AA haplotype	↑ ISR	Metabolism	[210]
		rs11574027 T>G; rs11574077 G>A	↑ ISR		[194]
13q12	ALOX5AP	rs10507391 T>A; rs17216473 G>A	↑ ISR	Lipid metabolism	[211]
		rs17222814G>A	↓ ISR
17p13.1	p53	Arg72Pro	↑ ISR	Cell cycling	[212]
17q23.3	ACE	D allele: no 287-bp Alu repeats insertion in intron 16	↑ ISR	Cell cycling	[29-32,213-215]
19p13.2	ICAM-1	K469E	↑ ISR	Cell-cell interaction	[216]
21q22.3	CD18	C1323T	↓ ISR	Inflammation	[217]
22q13.1	HO-1	> 29 TG repeats in promoter	↑ ISR	Oxidative stress	[218]

ISR: In-stent restenosis.