Gene "CHRNA3"
Found 2 records
Gene information
Gene symbol:
CHRNA3
See related:
Ensembl: ENSG00000080644, Gene ID: 1136
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Affect the likelihood of hypertension(1) ,Risk factor(1)  
Details：
  • Variant 1:
    CHRNA3:c.645C>T(p.Tyr215Tyr)
    Gene:
    CHRNA3
    Genomic location:
    chr15:78894339
    dbSNP ID:
    rs1051730
    Target disease:
    Chronic Obstructive Pulmonary Disease(DOID_3083)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.02 
    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.
    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.
  • Variant 2:
    CHRNA3:c.377+1710A>G
    Gene:
    CHRNA3
    Genomic location:
    chr15:78907656
    dbSNP ID:
    rs6495308
    Target disease:
    Hypertension(DOID_10763)
    Effect type:
    Expressivity 
    Modifier effect:
    Affect the likelihood of hypertension 
    Evidence:
    P<0.05 
    Effect:
    CHRNA3 rs6495308 genotype was found to affect the likelihood of hypertension in Chinese male smokers.
    Reference:
    PMID25874685
    Title:
    CHRNA3 rs6495308 genotype as an effect modifier of the association between daily cigarette consumption and hypertension in Chinese male smokers.
    Species studied:
    Human
    Abstract:
    Cigarette smoking is an important risk factor for hypertension. However, the effects on hypertension of the interaction between smoking and the genotype of the nicotinic acetylcholine receptor gene are unclear. The purpose of this study is to determine whether the CHRNA3 rs6495308 genotype affects the association between daily cigarette consumption and hypertension. We recruited 947 male smokers in southern China and used a questionnaire administered in face to face interviews to obtain information on their socio-demographic characteristics and smoking behavior. Blood samples were collected to test for CHRNA3 rs6495308 genotype variations. Three blood-pressure measurements were taken for each participant, and the average values recorded. We found that, compared with light smoking (<15 cigarettes per day), heavy smoking (≥15 cigarettes per day) yielded a greater risk of hypertension. We also observed that the interaction between daily cigarette consumption and the CHRNA3 rs6495308 genotype may affect hypertension. Heavy smokers with the homozygous mutant CHRNA3 rs6495308 genotype exhibited a significantly greater risk of hypertension than light smokers with wild-type CHRNA3 rs6495308 genotypes. The positive interaction between heavy smoking and the homozygous mutant CHRNA3 rs6495308 genotype was found to affect the likelihood of hypertension in Chinese male smokers.