DO: 1324; MONDO: 0012955;
Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38) : 6:30,500,001-32,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 6p21.33 | {Lung cancer susceptibility 4} | 612593 | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of lung cancer, see 211980.
In a genomewide association study pooling data from 3 studies including 5,095 patients with lung cancer and 5,200 controls, Wang et al. (2008) found a significant association between susceptibility to lung cancer and rs3117582 on chromosome 6p21.33 within intron 1 of the BAT3 (142590) gene. The findings were replicated in an additional 2,484 cases and 3,036 controls (p value = 4.97 x 10(-10)). The C allele of rs3117582 was associated with increased disease risk. Another SNP (rs3131379) in the region showed significant association (p value = 1.91 x 10(-7)) and localized to intron 10 of the MSH5 (603382) gene.
Wang, Y., Broderick, P., Webb, E., Wu, X., Vijayakrishnan, J., Matakidou, A., Qureshi, M., Dong, Q., Gu, X., Chen, W. V., Spitz, M. R., Eisen, T., Amos, C. I., Houlston, R. S. Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nature Genet. 40: 1407-1409, 2008. [PubMed: 18978787] [Full Text: https://doi.org/10.1038/ng.273]
