PhenoModifier-Variant Detail

Variant "SLC9A3:n.586624A>G"

Search result: 1 record

Variant information

Gene:

SLC9A3

Variant:

SLC9A3:n.586624A>G

Genomic location:

chr5:586624(hg19)

HGVS:

SO Term	RefSeq
	MIR4456-LOC100996325:n.586624A>G

dbSNP ID:

rs57221529

GWAS trait:

Cystic fibrosis,lung disease severity measurement

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered severity(1)

Detail：

Target disease:

Cystic fibrosis (DOID_1485)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

Genome-wide association meta-analysis

Effect:

Altered severity of lung disease

Reference:

PMID26417704

Title:

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.

Species studied:

Human

Abstract:

The identification of small molecules that target specific CFTR variants has ushered in a new era of treatment for cystic fibrosis (CF), yet optimal, individualized treatment of CF will require identification and targeting of disease modifiers. Here we use genome-wide association analysis to identify genetic modifiers of CF lung disease, the primary cause of mortality. Meta-analysis of 6,365 CF patients identifies five loci that display significant association with variation in lung disease. Regions on chr3q29 (MUC4/MUC20; P=3.3 × 10(-11)), chr5p15.3 (SLC9A3; P=6.8 × 10(-12)), chr6p21.3 (HLA Class II; P=1.2 × 10(-8)) and chrXq22-q23 (AGTR2/SLC6A14; P=1.8 × 10(-9)) contain genes of high biological relevance to CF pathophysiology. The fifth locus, on chr11p12-p13 (EHF/APIP; P=1.9 × 10(-10)), was previously shown to be associated with lung disease. These results provide new insights into potential targets for modulating lung disease severity in CF.