Variant "MUC4:c.14986+555T>C"
Search result: 1 record
Variant information
Gene:
MUC4 
Variant:
MUC4:c.14986+555T>C 
Genomic location:
chr3:195485440(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_018406.6:c.14986+555T>C
protein_coding NM_001322468.1:c.12769+555T>C
protein_coding NM_004532.5:c.2278+555T>C
protein_coding NM_138297.4:c.2125+555T>C
dbSNP ID:
rs3103933  
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.