Back to Search
Start Over
New common variants affecting susceptibility to basal cell carcinoma.
- Source :
-
Nature genetics [Nat Genet] 2009 Aug; Vol. 41 (8), pp. 909-14. Date of Electronic Publication: 2009 Jul 05. - Publication Year :
- 2009
-
Abstract
- In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.
- Subjects :
- Carcinoma, Basal Cell complications
Carcinoma, Squamous Cell genetics
Chromosomes, Human, Pair 7 genetics
Chromosomes, Human, Pair 9 genetics
Coronary Artery Disease complications
Coronary Artery Disease genetics
Genome-Wide Association Study
Humans
Keratin-5 genetics
Linkage Disequilibrium genetics
Melanoma pathology
Membrane Proteins genetics
Molecular Sequence Data
Neoplasm Proteins genetics
Skin Neoplasms complications
Carcinoma, Basal Cell genetics
Genetic Predisposition to Disease
Polymorphism, Single Nucleotide genetics
Skin Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1546-1718
- Volume :
- 41
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 19578363
- Full Text :
- https://doi.org/10.1038/ng.412