Variant "mtDNA:c.324A/G"
Search result: 1 record
Variant information
Gene:
mtDNA 
Variant:
mtDNA:c.324A/G 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Lung Carcinoma (DOID_3905)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.007 
    Effect:
    The minor alleles of nucleotides 235A/G and 324A/G were associated with an increased risk for lung cancer patients
    Reference:
    PMID22708867
    Title:
    Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for lung cancer.
    Species studied:
    Human
    Abstract:
    Accumulation of single nucleotide polymorphisms (SNPs) in the displacement loop (D-loop) of mitochondrial DNA (mtDNA) may be associated with an increased cancer risk. We investigated the lung cancer risk profile of D-loop SNPs in a case-controlled study. The minor alleles of nucleotides 235A/G and 324A/G were associated with an increased risk for lung cancer patients. The minor alleles of the nucleotides 151C/T, 200A/G, 524C/CA, and 16274G/A were specifically associated with the cancer risk of squamous cell carcinoma, whereas the minor allele of nucleotide 16298T/C was specifically associated with the risk of small cell lung cancer. In conclusion, SNPs in mtDNA are potential modifiers of lung cancer risk. The analysis of genetic polymorphisms in the mitochondrial D-loop can help identify subgroups of patients who are at a high risk of developing lung cancer.