Gene "mtDNA"
Found 8 records
Genetic interaction partners
No data
Modifier statisitcs
Record:
8
Disorder:
3
Vriant:
8
Reference:
2
Effect type:
Expressivity(8)
Modifier effect:
Risk factor(7)
,Altered onset time(1)
Details:
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Variant 1:Gene:Genomic location:Target disease:Friedreich Ataxia(DOID_12705)Effect type:ExpressivityModifier effect:Altered onset timeEvidence:P<0.001Effect:Heteroplasmic C13806A polymorphisms were associated with Iranian FRDA patientsReference:Title:A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia.Species studied:HumanAbstract:Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by decreased expression of the protein Frataxin. Frataxin deficiency leads to excessive free radical production and dysfunction of chain complexes. Mitochondrial DNA (mtDNA) could be considered a candidate modifier factor for FRDA disease, since mitochondrial oxidative stress is thought to be involved in the pathogenesis of this disease. It prompted us to focus on the mtDNA and monitor the nucleotide changes of genome which are probably the cause of respiratory chain defects and reduced ATP generation. We searched about 46% of the entire mitochondrial genome by temporal temperature gradient gel electrophoresis (TTGE) and DNA fragments showing abnormal banding patterns were sequenced for the identification of exact mutations. In 18 patients, for the first time, we detected 26 mtDNA mutations; of which 5 (19.2%) was novel and 21 (80.8%) have been reported in other diseases. Heteroplasmic C13806A polymorphisms were associated with Iranian FRDA patients (55.5%). Our results showed that NADH dehydrogenase (ND) genes mutations in FRDA samples were higher than normal controls (P < 0.001) and we found statistically significant inverse correlation (r = -0.8) between number of mutation in ND genes and age of onset in FRDA patients. It is possible that mutations in ND genes could constitute a predisposing factor which in combination with environmental risk factors affects age of onset and disease progression.
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Variant 2:Gene:Genomic location:Target disease:Squamous Cell Carcinoma(DOID_1749)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.019Effect:The minor alleles of the nucleotides 151C/T, 200A/G, 524C/CA, and 16276G/A were specifically associated with the cancer risk of squamous cell carcinomaReference:Title:Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for lung cancer.Species studied:HumanAbstract: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.
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Variant 3:Gene:Genomic location:Target disease:Lung Carcinoma(DOID_3905)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.007Effect:The minor alleles of nucleotides 235A/G and 324A/G were associated with an increased risk for lung cancer patientsReference:Title:Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for lung cancer.Species studied:HumanAbstract: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.
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Variant 4:Gene:Genomic location:Target disease:Lung Carcinoma(DOID_3905)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.001Effect:The minor alleles of nucleotides 235A/G and 324A/G were associated with an increased risk for lung cancer patientsReference:Title:Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for lung cancer.Species studied:HumanAbstract: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.
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Variant 5:Gene:Genomic location:Target disease:Squamous Cell Carcinoma(DOID_1749)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.037Effect:The minor alleles of the nucleotides 151C/T, 200A/G, 524C/CA, and 16275G/A were specifically associated with the cancer risk of squamous cell carcinomaReference:Title:Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for lung cancer.Species studied:HumanAbstract: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.
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Variant 6:Gene:Genomic location:Target disease:Lung Carcinoma(DOID_3905)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.047Effect:The minor allele of nucleotide 16298T/C was specifically associated with the risk of small cell lung cancerReference:Title:Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for lung cancer.Species studied:HumanAbstract: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.
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Variant 7:Gene:Genomic location:Target disease:Squamous Cell Carcinoma(DOID_1749)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.037Effect:The minor alleles of the nucleotides 151C/T, 200A/G, 524C/CA, and 16277G/A were specifically associated with the cancer risk of squamous cell carcinomaReference:Title:Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for lung cancer.Species studied:HumanAbstract: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.
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Variant 8:Gene:Genomic location:Target disease:Squamous Cell Carcinoma(DOID_1749)Effect type:ExpressivityModifier effect:Risk factorEvidence:P=0.021Effect: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 carcinomaReference:Title:Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as a risk factor for lung cancer.Species studied:HumanAbstract: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.