PhenoModifier-Variant Detail

Variant "NOS1AP:c.106-38510G>T"

Search results: 4 records

Variant information

Gene:

NOS1AP

Variant:

NOS1AP:c.106-38510G>T

Genomic location:

chr1:162085685(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_014697.2:c.106-38510G>T
protein_coding	NM_001164757.1:c.106-38510G>T

Alias:

NOS1AP:rs10494366

dbSNP ID:

rs10494366

GWAS trait:

QT interval

Modifier statisitcs

Record:

4

Disorder:

1

Reference:

4

Effect type:

Expressivity(4)

Modifier effect:

Risk factor(3) ,Altered severity(1)

Details：

Target disease:

Long QT Syndrome (DOID_2843)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

Increase risk of cardiac events

Alias in reference:

NOS1AP:c.106-38510G>T

Reference:

PMID30215713

Title:

Modifier genes for sudden cardiac death.

Species studied:

Human

Abstract:

Genetic conditions, even those associated with identical gene mutations, can present with variable clinical manifestations. One widely accepted explanation for this phenomenon is the existence of genetic factors capable of modifying the consequences of disease-causing mutations (modifier genes). Here, we address the concepts and principles by which genetic factors may be involved in modifying risk for cardiac arrhythmia, then discuss the current knowledge and interpretation of their contribution to clinical heterogeneity. We illustrate these concepts in the context of two important clinical conditions associated with risk for sudden cardiac death including a monogenic disorder (congenital long QT syndrome) in which the impact of modifier genes has been established, and a complex trait (life-threatening arrhythmias in acute myocardial infarction) for which the search for genetic modifiers of arrhythmic risk is more challenging. Advances in understanding the contribution of modifier genes to a higher or lower propensity towards sudden death should improve patient-specific risk stratification and be a major step towards precision medicine.
Target disease:

Long QT Syndrome (DOID_2843)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

HR=1.63; 95% CI: 1.06 to 2.5; P<0.05

Effect:

Whereas rs4657139 and rs10494366 were associated with increased incidence of cardiac events

Alias in reference:

NOS1AP:c.106-38510G>T

Reference:

PMID20538168

Title:

Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome.

Species studied:

Human

Abstract:

We investigated the role of nitric oxide 1 adaptor protein (NOS1AP) as a genetic modifier of long QT syndrome (LQTS).
Target disease:

Long QT Syndrome (DOID_2843)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

P=8.6×10(-7)

Effect:

SNPs at NOS1AP (rs10494366, P=9.5×10(-8); rs12143842, P=4.8×10(-7); and rs2880058, P=8.6×10(-7)) were strongly associated with the QTc-interval with marked effects

Alias in reference:

NOS1AP:c.106-38510G>T

Reference:

PMID25737393

Title:

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.

Species studied:

Human

Abstract:

Considerable interest exists in the identification of genetic modifiers of disease severity in the long-QT syndrome (LQTS) as their identification may contribute to refinement of risk stratification.
Target disease:

Long QT Syndrome (DOID_2843)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

Risk factor

Alias in reference:

NOS1AP:rs10494366

Reference:

PMID23856471

Title:

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

Species studied:

Human

Abstract:

Long-QT syndrome (LQTS) is characterized by such striking clinical heterogeneity that, even among family members carrying the same mutation, clinical outcome can range between sudden death and no symptoms. We investigated the role of genetic variants as modifiers of risk for cardiac events in patients with LQTS.