PhenoModifier-Variant Detail

Variant "DCTN4:c.1047C>G(p.Phe349Leu)"

Search result: 1 record

Variant information

Gene:

DCTN4

Variant:

DCTN4:c.1047C>G(p.Phe349Leu)

Genomic location:

chr5:150097883(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001135643.1:c.1047C>G(p.Phe349Leu)
protein_coding	NM_016221.3:c.1026C>G(p.Phe342Leu)
protein_coding	NM_001135644.1:c.855C>G(p.Phe285Leu)

dbSNP ID:

rs11954652

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered onset time of P. aeruginosa airway infection(1)

Detail：

Target disease:

Cystic fibrosis (DOID_1485)

Effect type:

Expressivity

Modifier effect:

Altered onset time of P. aeruginosa airway infection

Evidence:

P<0.05

Effect:

Variants in DCTN4 are associated with time to first Pseudomonas aeruginosa (P. aeruginosa) airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa among individuals with cystic fibrosis (MIM219700).

Reference:

PMID22772370

Title:

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Species studied:

Human

Abstract:

Exome sequencing has become a powerful and effective strategy for the discovery of genes underlying Mendelian disorders. However, use of exome sequencing to identify variants associated with complex traits has been more challenging, partly because the sample sizes needed for adequate power may be very large. One strategy to increase efficiency is to sequence individuals who are at both ends of a phenotype distribution (those with extreme phenotypes). Because the frequency of alleles that contribute to the trait are enriched in one or both phenotype extremes, a modest sample size can potentially be used to identify novel candidate genes and/or alleles. As part of the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP), we used an extreme phenotype study design to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis.