Disorder "Chronic Obstructive Pulmonary Disease"
Found 4 records
Disorder information
Disorder name:
Chronic Obstructive Pulmonary Disease
Disoder ID:
OMIM entry:
Synonyms:
COLD,COPD,chronic obstructive airway disease,chronic obstructive lung disease
Definition:
An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.
Modifier statisitcs
Record:
4
Gene:
4
Variant:
4
Reference:
2
Effect type:
Expressivity(4)
Modifier effect:
Risk factor(4)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| IREB2 | IREB2:c.106+8741G>A | Expressivity | Risk factor | P<0.05 | 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.more | more |
| HYKK | HYKK:c.337+256T>C | Expressivity | Risk factor | P=0.04 | 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.more | more |
| CHRNA3 | CHRNA3:c.645C>T(p.Tyr215Tyr) | Expressivity | Risk factor | P=0.02 | 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.more | more |
| CFTR | CFTR:c.1408G>A(p.Met470Val) | Expressivity | Risk factor | OR=0.29, 95% CI: 0.11–0.80, P=0.016 | VV470 genotype had a 3.4-fold decreased risk for the appearance of severe/very severe COPD symptoms, and the obtained results indicate that this genotype may have a protective role.more | more |
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