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 |
|---|---|---|---|---|---|---|
| NPC1L1 | NPC1L1:c.887del(p.Ala296fs) | 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:p.Ala1201Val | 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 | |
| LPL | LPL:p.Ser447* | Expressivity | Risk factor | P=0.003 | The LPL S447X polymorphism also impacts on CHD risk through interaction with hypertension, and there was an additive action of these 2 polymorphisms and SBP on CHD riskmore | more |
| LPA | LPA:c.4974-2A>G | Penetrance | Altered incidence | Assessment of genotype–phenotype associations and gene activity study | These splice variants confer protection from cardiovascular diseasemore | more |
| GCLM | GCLM:c.588C>T | Expressivity | Altered endothelial NO bioactivity | Gene activity study | The -588T polymorphism of the GCLM gene causes a decrease in endothelial NO bioactivity, leading to impairment of endothelium-dependent vasomotor function in large and resistance coronary arteries.more | more |
| GCLM:c.588C>T | Expressivity | Risk factor | OR=3.92, P=0.003 | The two promoter polymorphisms of GCLM (-588C/T) and GCLC (-128T/C) are associated with an increased risk of IHD in Kazakhstan population.more | more | |
| GCLC | GCLC:c.-594C>T | Expressivity | Risk factor | OR=3.22, P=0.03 | The two promoter polymorphisms of GCLM (-588C/T) and GCLC (-128T/C) are associated with an increased risk of IHD in Kazakhstan population.more | more |
| CX3CR1 | CX3CR1:c.935C>T(p.Thr280Met) | Expressivity | Risk factor | Adjusted OR=2.4, 95% CI: 1.3-4.2, P=0.003 | Fractalkine receptor polymorphisms V2491 and T280M as genetic risk factors for restenosis.more | more |
| APOC3 | APOC3:A43T | Expressivity | Risk factor | OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more |
| APOC3:A43T | Expressivity | Altered circulating level | P=8×10(-10) | Carriers of these mutations were found to have a reduced risk of coronary heart disease.more | more |