PhenoModifier-Variant Detail

Variant "PCSK9:c.426C>G(p.Tyr142*)"

Search result: 1 record

Variant information

Gene:

PCSK9

Variant:

PCSK9:c.426C>G(p.Tyr142*)

Genomic location:

chr1:55512222(hg19)

HGVS:

dbSNP ID:

rs67608943

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered plasma levels of LDL cholesterol(1)

Detail：

Target disease:

Coronary Artery Disease (DOID_3393)

Effect type:

Expressivity

Modifier effect:

Altered plasma levels of LDL cholesterol

Evidence:

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)

Effect:

Reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large population

Reference:

PMID16554528

Title:

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

Species studied:

Human

Abstract:

A low plasma level of low-density lipoprotein (LDL) cholesterol is associated with reduced risk of coronary heart disease (CHD), but the effect of lifelong reductions in plasma LDL cholesterol is not known. We examined the effect of DNA-sequence variations that reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large population.