Gene "NOS1AP"
Found 19 records
Gene information
Gene symbol:
NOS1AP
See related:
Ensembl: ENSG00000198929, Gene ID: 9722
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
19
Disorder:
1
Vriant:
8
Reference:
6
Effect type:
Expressivity(19)
Modifier effect:
Risk factor(13)
,Altered severity(6)
Details:
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Variant 1:Gene:Genomic location:dbSNP ID:Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:From review articleEffect:Risk factorReference:Title:Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.Species studied:HumanAbstract: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.
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Variant 2:Gene:Genomic location:dbSNP ID:Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:From review articleEffect:Risk factorReference:Title:Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.Species studied:HumanAbstract: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.
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Variant 3:Gene:Genomic location:dbSNP ID:Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:P<0.002Effect:there was an association of rs12029454 with QTc (p<0.002).Reference:Title:Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.Species studied:HumanAbstract: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.
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Variant 4:Gene:Genomic location:chr1:162033890dbSNP ID:Alias:NOS1AP:rs12143842Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Altered severityEvidence:From review articleEffect:Increase QT symptomsReference:Title:Modifier genes for sudden cardiac death.Species studied:HumanAbstract: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.
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Variant 5:Gene:Genomic location:chr1:162033890dbSNP ID:Alias:NOS1AP:rs12143842Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:HR=10.15, 95% CI: (2.38, 43.34), q = 0.045Effect:SNPs in NOS1AP and KCNQ1 are associated with an increased risk of cardiac events in LQTS patientsReference:Title:Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome.Species studied:HumanAbstract:Disease-modifying single nucleotide polymorphisms (SNPs) can help explain incomplete penetrance and variable expressivity in congenital long QT syndrome (LQTS) by altering susceptibility to arrhythmias.
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Variant 6:Gene:Genomic location:chr1:162033890dbSNP ID:Alias:NOS1AP:rs12143842Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Altered severityEvidence:P=9.5×10(-8)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 effectsReference:Title:Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.Species studied:HumanAbstract: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.
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Variant 7:Gene:Genomic location:chr1:162033890dbSNP ID:Alias:NOS1AP:rs12143842Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:From review articleEffect:Risk factorReference:Title:Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.Species studied:HumanAbstract: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.
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Variant 8:Gene:Genomic location:chr1:162029907dbSNP ID:Alias:NOS1AP:rs4657139Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Altered severityEvidence:From review articleEffect:Increase QT symptomsReference:Title:Modifier genes for sudden cardiac death.Species studied:HumanAbstract: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.
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Variant 9:Gene:Genomic location:chr1:162029907dbSNP ID:Alias:NOS1AP:rs4657139Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:P<0.05Effect:Whereas rs4657139 and rs10494366 were associated with increased incidence of cardiac eventsReference:Title:Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome.Species studied:HumanAbstract:We investigated the role of nitric oxide 1 adaptor protein (NOS1AP) as a genetic modifier of long QT syndrome (LQTS).
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Variant 10:Gene:Genomic location:chr1:162029907dbSNP ID:Alias:NOS1AP:rs4657139Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.03Effect:NOS1AP variants were significantly associated with the occurrence of congenital long-QT syndromeReference:Title:NOS1AP is a genetic modifier of the long-QT syndrome.Species studied:HumanAbstract:In congenital long-QT syndrome (LQTS), a genetically heterogeneous disorder that predisposes to sudden cardiac death, genetic factors other than the primary mutation may modify the probability of life-threatening events. Recent evidence indicates that common variants in NOS1AP are associated with the QT-interval duration in the general population.
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Variant 11:Gene:Genomic location:chr1:162029907dbSNP ID:Alias:NOS1AP:rs4657139Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:From review articleEffect:Risk factorReference:Title:Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.Species studied:HumanAbstract: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.
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Variant 12:Gene:Genomic location:chr1:162014632dbSNP ID:Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Altered severityEvidence:From review articleEffect:Increase QT symptomsReference:Title:Modifier genes for sudden cardiac death.Species studied:HumanAbstract: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.
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Variant 13:Gene:Genomic location:chr1:162014632dbSNP ID:Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Altered severityEvidence:P=4.8×10(-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 effectsReference:Title:Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.Species studied:HumanAbstract: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.
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Variant 14:Gene:Genomic location:chr1:162085685dbSNP ID:Alias:NOS1AP:rs10494366Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:From review articleEffect:Increase risk of cardiac eventsReference:Title:Modifier genes for sudden cardiac death.Species studied:HumanAbstract: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.
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Variant 15:Gene:Genomic location:chr1:162085685dbSNP ID:Alias:NOS1AP:rs10494366Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:HR=1.63; 95% CI: 1.06 to 2.5; P<0.05Effect:Whereas rs4657139 and rs10494366 were associated with increased incidence of cardiac eventsReference:Title:Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome.Species studied:HumanAbstract:We investigated the role of nitric oxide 1 adaptor protein (NOS1AP) as a genetic modifier of long QT syndrome (LQTS).
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Variant 16:Gene:Genomic location:chr1:162085685dbSNP ID:Alias:NOS1AP:rs10494366Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Altered severityEvidence: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 effectsReference:Title:Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.Species studied:HumanAbstract: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.
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Variant 17:Gene:Genomic location:chr1:162085685dbSNP ID:Alias:NOS1AP:rs10494366Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:From review articleEffect:Risk factorReference:Title:Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.Species studied:HumanAbstract: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.
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Variant 18:Gene:Genomic location:chr1:162035274dbSNP ID:Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:From review articleEffect:Increase risk of cardiac eventsReference:Title:Modifier genes for sudden cardiac death.Species studied:HumanAbstract: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.
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Variant 19:Gene:Genomic location:chr1:162035274dbSNP ID:Target disease:Long QT Syndrome(DOID_2843)Effect type:ExpressivityModifier effect:Risk factorEvidence:HR=8.57, 95% CI: (2.30, 31.9), q=0.045Effect:SNPs in NOS1AP and KCNQ1 are associated with an increased risk of cardiac events in LQTS patientsReference:Title:Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome.Species studied:HumanAbstract:Disease-modifying single nucleotide polymorphisms (SNPs) can help explain incomplete penetrance and variable expressivity in congenital long QT syndrome (LQTS) by altering susceptibility to arrhythmias.