Genetics of coronary heart disease with reference to ApoAI-CIII-AIV gene region

Table 3 Example of association studies of factors involved in inflammation and cell signalling with coronary artery disease and/or myocardial infarction

Gene	Polymorphism	Ref.	Suggested results
CRP	1059G/C	Zee et al[59]	No significant association with non-fatal MI, stroke or cardiovascular death
ICAM-1	Lys-469-glu	Jiang et al[60]	Association with MI and CAD
E-selectin	Ser-128-Arg, Leu-554-phe, G98T	Wenzel et al[61]	Associated with angiographic proof of severe CAD in patients < 50 yr
	Ser-128-Arg, G98T	Herrmann et al[62]	No association with MI
		Zheng et al[63]	T allele more common in younger patients with angiographic CAD
	Ser-128-Arg	Ye et al[64]	Association with early-onset CAD
P-selectin	Pro715	Herrmann et al[65], Kee et al[66]	Possibly has a protective role from MI
	S290N, N562D, V599L, T715P, T741T	Tregouet et al[67]	Protective effect of the P715; S290N and N562D associated with MI, when carried by certain haplotype
	C-2123G, A-1969G, Thr715Pro	Barbaux et al[68]	Polymorphisms associated with P-selectin levels but not with MI
TNF-αandβ	-863C/A, -308G/A (TNF-α), 252G/A (TNF-β)	Koch et al[69]	No association of TNF or IL-10 polymorphisms with MI or CAD
TNF-α	Five polymorphisms	Herrmann et al[65]	No association to MI or CAD
TNF-αandβ	TNF- α 308 G/A ,	Padovani et al[70]	No association to MI
	TNF- β 252 A/G
TNF-αandβ	TNF- β 308 G/A , TNF- β 252 A/G	Keso et al[71]	No association to old MI by autopsy or CAD
TNF-α	308 G/A	Francis et al[72]	No association to angiographic CAD
IL-1 cluster	IL-1α (-889), IL-1b (-511),	Francis et al[72]	No association to angiographic CAD
	IL-1β (+3953), IL-1RA intron 2 VNTR		IL-1RA VNTR allele 2 associated with single-vessel CAD
IL-1-RA	IL-1RA intron 2 VNTR	Manzoli et al[73]	No clear-cut association to CAD or MI
IL-1 cluster	IL-1β 511 C/T, IL-1RA intron 2 VNTR	Vohnout et al[74]	No association to angiographic CAD with either polymorphisms
IL-1-RA	IL 1RN-VNTR	Zee et al[75]	No association with risk for future MI
IL-1β, IL-RA	IL-1β 511 C/T, IL-1RA intron 2 VNTR	Momiyama et al[76]	IL-1 β (-511)C/C and IL-1Ra (intron 2)2-or 3- repeat allele both associated with CAD, association with MI only in patient who are seropositive for Chlamydia pneumoniae
IL-6	IL-6 G (-174)C promoter polymorphism	Nauck et al[77]	No association with the risk for CAD or MI
	-174 (G/C), -572 (G/C), -596 (G/A), +528 I/D	Georges et al[78]	-174 C associated with MI (OR = 1.34)-174 C more frequent in patients with two or fewer stenosed vessels than in patients with three vessel lesions
IL-10	3 IL-10 promotor polymorphisms (1082G/A, - 819C/T and -592C/A)	Koch et al[69]	No association with MI or CAD
	7 polymorphisms	Donger et al[79]	No association with risk for MI
TGF-β1	29 T/C	Yokota et al[80]	T allele is a risk factor for MI in middle-aged Japanese men
	-509T	Wang et al[81]	No association with CAD
	7 polymorphisms	Cambien et al[82]	No association with degree of angiographic CAD, Pro25 allele associated with MI in some regions.
Stromelysin(MMP-3)	5 polymorphisms	Syrris et al[83]	No association of either polymorphisms with CAD
	5A-117/6A promoter polymorphism (5A/6A)	Schwarz et al[84]	No association with the risk for MI, 6A allele marker for progression of CAD
	5A/6A	Terashima et al[85]	5A allele associated with risk for MI
	5A/6A	Kim et al[86]	5A allele associated with stable angina
	5A/6A	Humphries et al[87]	6A genotypes at greater risk for CAD related events in nonsmokers, 5A/5A genotypes amplifies risk in smokers
	5A/6A	Ye et al[88]	Homozygosis for 6A associated with greater progression of angiographic CAD
PECAM-1(CD31)	Val 125Leu, Asn563Ser and Gly670Arg	Sasaoka et al[89]	563Ser/Ser and 670Arg/Arg genotypes associated with MI
	Val 125Leu, Asn563Ser	Wenzel et al[90]	125 Val and 563Asn associated with early onset of CAD (< 50 yr)
	Leu 125Val, Ser563Asn	Song et al[91]	125Val and 563Asn associated with CAD
	Val125Leu	Gardemann et al[92]	No association with MI; weak association of Val125 with CAD in low-risk patients without HTN or DM (OR = 1.54; 95%CI: 1.03-2.3)

CRP: C-reactive protein; DM: Diabetes mellitus; HTN: Hypertension; ICAM: Intercellular adhesion molecule; IL: Interleukin; MI: Myocardial infarction; MMP: Matrix metalloproteinase; PECAM: Platelet endothelial cell adhesion molecule; TGF: Transforming growth factor; TNF: Tumor necrosis factor; VNTR: Variable number of tandem repeats.