PhenoModifier-Variant Detail

Variant "CYSLTR2:c.*1493A>G"

Search results: 2 records

Variant information

Gene:

CYSLTR2

Variant:

CYSLTR2:c.*1493A>G

Genomic location:

chr13:49283487(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001308465.1:c.*1493A>G
protein_coding	NM_001308467.1:c.*1493A>G
protein_coding	NM_001308468.1:c.*1493A>G
protein_coding	NM_001308469.1:c.*1493A>G
protein_coding	NM_001308470.1:c.*1493A>G
protein_coding	NM_001308471.1:c.*1493A>G
protein_coding	NM_001308476.1:c.*1493A>G
protein_coding	NM_020377.3:c.*1493A>G
show all

dbSNP ID:

rs912278

GWAS trait:

no data

Modifier statisitcs

Record:

2

Disorder:

1

Reference:

2

Effect type:

Expressivity(2)

Modifier effect:

Altered morning PEF(1) ,Altered response to montelukast(1)

Details：

Target disease:

Asthma (DOID_2841)

Effect type:

Expressivity

Modifier effect:

Altered morning PEF

Evidence:

From review article

Effect:

Mutations in CYSLT2 is Associated with morning PEF in subjects taking montelukast

Reference:

PMID22455494

Title:

Genetic basis for personalized medicine in asthma.

Species studied:

Human

Abstract:

There is heterogeneity in patient responses to current asthma medications. Significant progress has been made identifying genetic polymorphisms that influence the efficacy and potential for adverse effects to asthma drugs, including; β(2)-adrenergic receptor agonists, corticosteroids and leukotriene modifiers. Pharmacogenetics holds great promise to maximise clinical outcomes and minimize adverse effects. Asthma is heterogeneous with respect to clinical presentation and inflammatory mechanisms underlying the disease, which is likely to contribute to variable results in clinical trials targeting specific inflammatory mediators. Genome-wide association studies have begun to identify genes underlying asthma (e.g., IL1RL1), which represent future therapeutic targets. In this article, we review and update the pharmacogenetics of current asthma therapies and discuss the genetics underlying selected Phase II and future targets.
Target disease:

Asthma (DOID_2841)

Effect type:

Expressivity

Modifier effect:

Altered response to montelukast

Evidence:

P=0.02

Effect:

CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy.

Reference:

PMID17460547

Title:

Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast.

Species studied:

Human

Abstract:

Interindividual clinical response to leukotriene modifiers is highly variable, and less efficacious than inhaled corticosteroids in treating asthma. Genetic variability in 5-lipoxygenase biosynthetic and receptor pathway gene loci may influence cysteinyl-leukotriene production and subsequent response to leukotriene modifiers.