Variant "IREB2:c.106+8741G>A"
Search result: 1 record
Variant information
Gene:
IREB2 
Variant:
IREB2:c.106+8741G>A 
Genomic location:
chr15:78740964(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_004136.3:c.106+8741G>A
protein_coding NM_001320943.1:c.106+8741G>A
protein_coding NM_001320941.1:c.-575+8741G>A
protein_coding NM_001320942.1:c.-66+8741G>A
dbSNP ID:
rs2568494  
GWAS trait:
forced expiratory volume,response to bronchodilator,chronic obstructive pulmonary disease,FEV/FEC ratio 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Chronic Obstructive Pulmonary Disease (DOID_3083)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P<0.05 
    Effect:
    Three SNPs (rs2568494 in IREB2, rs8034191 in LOC123688, and rs1051730 in CHRNA3) were associated with pre-bronchodilator FEV1 percent of predicted in the AAT Genetic Modifiers Study. Two SNPs (rs2568494 and rs1051730) were associated with the post-bronchodilator FEV1 percent of predicted and pre-bronchodilator FEV1/FVC ratio. In the UK National Registry dataset, rs2568494 was significantly associated with emphysema in the male subgroup.
    Reference:
    PMID22356581
    Title:
    Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.
    Species studied:
    Human
    Abstract:
    The development of COPD in subjects with alpha-1 antitrypsin (AAT) deficiency is likely to be influenced by modifier genes. Genome-wide association studies and integrative genomics approaches in COPD have demonstrated significant associations with SNPs in the chromosome 15q region that includes CHRNA3 (cholinergic nicotine receptor alpha3) and IREB2 (iron regulatory binding protein 2).We investigated whether SNPs in the chromosome 15q region would be modifiers for lung function and COPD in AAT deficiency.