Disorder "Coronary Artery Disease"
Found 48 records
Disorder information
Disorder name:
Coronary Artery Disease
Disoder ID:
OMIM entry:
OMIM:300464
,OMIM:607339
,OMIM:608316
,OMIM:608318
,OMIM:608320
,OMIM:610947
,OMIM:611139
,OMIM:612030
,OMIM:614293
Synonyms:
CHD,Coronary disease,coronary arteriosclerosis,coronary heart disease
Definition:
An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Modifier statisitcs
Record:
48
Gene:
13
Variant:
39
Reference:
11
Effect type:
Expressivity(46)
,Penetrance(2)
Modifier effect:
Risk factor(33)
,Altered circulating level(4)
,Altered plasma levels of LDL cholesterol(4)
,Altered triglyceride level(4)
,Altered incidence(2)
,Altered endothelial NO bioactivity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TNF | TNF:c.-238G>A | Expressivity | Risk factor | High frequency | Mean frequency of the A allele of G238A was higher in Asian populations than in Caucasian populations (also in CHD patients)more | more |
| TNF:c.-308G>A | Penetrance | Altered incidence | Heterozygote model: OR: 0.67; 95% CI: 0.49–0.93; q test: 0.581 and recessive model: OR: 0.69; 95% CI: 0.50–0.94; q test: 0.637 | The G308A polymorphism was only associated with a protective role against CADmore | more | |
| PCSK9 | PCSK9:c.137G>T (p.Arg46Leu) | Expressivity | Risk factor | HR=0.5, 95% CI: 0.32 to 0.79; P=0.003 | The hazard ratio for CHD among PCSK946L carriers relative to noncarriers, after ad justment for age and sex, was 0.5 (95 percent confidence interval, 0.32 to 0.79; P=0.003).more | more |
| PCSK9:c.2037C>A(p.Cys679*) | Expressivity | Altered plasma levels of LDL cholesterol | These mutations were associated with a 28 percent reduction in mean ldl cholesterol and an 88 percent reduction in the risk of chd (p=0.008 for the reduction; hazard ratio, 0.11; 95 percent confidence interval, 0.02 to 0.81; p=0.03) | Reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large populationmore | more | |
| PCSK9:c.426C>G(p.Tyr142*) | Expressivity | Altered plasma levels of LDL cholesterol | These mutations were associated with a 28 percent reduction in mean ldl cholesterol and an 88 percent reduction in the risk of chd (p=0.008 for the reduction; hazard ratio, 0.11; 95 percent confidence interval, 0.02 to 0.81; p=0.03) | Reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large populationmore | more | |
| PCSK9:p.Leu28* | Expressivity | Altered plasma levels of LDL cholesterol | These mutations were associated with a 28 percent reduction in mean ldl cholesterol and an 88 percent reduction in the risk of chd (p=0.008 for the reduction; hazard ratio, 0.11; 95 percent confidence interval, 0.02 to 0.81; p=0.03) | Reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large populationmore | more | |
| PCSK9:p.Trp428* | Expressivity | Altered plasma levels of LDL cholesterol | These mutations were associated with a 28 percent reduction in mean ldl cholesterol and an 88 percent reduction in the risk of chd (p=0.008 for the reduction; hazard ratio, 0.11; 95 percent confidence interval, 0.02 to 0.81; p=0.03) | Reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large populationmore | more | |
| NPC1L1 | NPC1L1:c.1216C>T(p.Arg406*) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more |
| NPC1L1:c.1449C>T(p.Tyr483Tyr) | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more | |
| NPC1L1:c.1681+1G>A | Expressivity | Risk factor | OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 | Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.more | more |