Genes associated with genetic and rare lung diseases and the risk of lung cancer.
1/5 보강
[BACKGROUND] We investigated whether markers, genes or terms of the associated with genetic or rare diseases (GARDs) that affect airway or lung function are associated with lung cancer.
- 95% CI 0.862-0.924
- OR 0.893
APA
Rosenberger A, Bickeböller H, et al. (2026). Genes associated with genetic and rare lung diseases and the risk of lung cancer.. BMC cancer, 26(1). https://doi.org/10.1186/s12885-026-15934-2
MLA
Rosenberger A, et al.. "Genes associated with genetic and rare lung diseases and the risk of lung cancer.." BMC cancer, vol. 26, no. 1, 2026.
PMID
41917862
Abstract
[BACKGROUND] We investigated whether markers, genes or terms of the associated with genetic or rare diseases (GARDs) that affect airway or lung function are associated with lung cancer.
[METHODS] Genes of interest were extracted from , Online Mendelian Inheritance in Man®), and Monarch Initiative. Individual SNP, gene level and gene-set analyses were performed for 52,207 SNPs, 1677 genes or for 620 terms of the . The analysis included 14,068 lung cancer cases and 12,390 cancer-free control subjects of European descent from the International Lung Cancer Consortium ILCCO.
[RESULTS] The marker rs56113850 (OR=0.893, 95%CI: 0.862-0.924) was associated with lung cancer (=1.2x10). This marker is located in CYP2A6 as well as in an enhancer region of , which is associated with cutis laxa. A suggestive significant association was observed for two markers associated with the gene, which is linked to Duchenne muscular dystrophy. The gene sets "Abnormal circulating adrenocorticotropin concentration" and "Central nervous system neoplasm" were found to be significantly enriched with GARD genes, and can therefore be considered to be associated with lung cancer.
[CONCLUSIONS] Genes associated with genetic and rare lung diseases do not generally appear to carry risk factors for lung cancer. However, genes associated with the hypothalamic-pituitary-adrenal axis show some, but rather weak or complex, associations with lung cancer. Tests at the gene level provide extremely inhomogeneous results, even when applied to the same data.
[SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1186/s12885-026-15934-2.
[METHODS] Genes of interest were extracted from , Online Mendelian Inheritance in Man®), and Monarch Initiative. Individual SNP, gene level and gene-set analyses were performed for 52,207 SNPs, 1677 genes or for 620 terms of the . The analysis included 14,068 lung cancer cases and 12,390 cancer-free control subjects of European descent from the International Lung Cancer Consortium ILCCO.
[RESULTS] The marker rs56113850 (OR=0.893, 95%CI: 0.862-0.924) was associated with lung cancer (=1.2x10). This marker is located in CYP2A6 as well as in an enhancer region of , which is associated with cutis laxa. A suggestive significant association was observed for two markers associated with the gene, which is linked to Duchenne muscular dystrophy. The gene sets "Abnormal circulating adrenocorticotropin concentration" and "Central nervous system neoplasm" were found to be significantly enriched with GARD genes, and can therefore be considered to be associated with lung cancer.
[CONCLUSIONS] Genes associated with genetic and rare lung diseases do not generally appear to carry risk factors for lung cancer. However, genes associated with the hypothalamic-pituitary-adrenal axis show some, but rather weak or complex, associations with lung cancer. Tests at the gene level provide extremely inhomogeneous results, even when applied to the same data.
[SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1186/s12885-026-15934-2.