Article
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
Human molecular genetics - 25 Aug 2022
Castaneda-Garcia Carolina, Iyer Vivek, Nsengimana Jérémie, Trower Adam, Droop Alastair, Brown Kevin M, Choi Jiyeon, Zhang Tongwu, Harland Mark, Newton-Bishop Julia A, Bishop D Timothy, Adams David J, Iles Mark M, Robles-Espinoza Carla Daniela
Abstract excerpt
A number of genomic regions have been associated with melanoma risk through genome-wide association studies; however, the causal variants underlying the majority of these associations remain unknown. Here, we sequenced either the full locus or the functional regions including exons of 19 melanoma-associated loci in 1959 British melanoma cases and 737 controls. Variant filtering followed by Fisher's exact test...
Topics
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Humans
- Melanoma
- Phenotype
- Polymorphism, Single Nucleotide
- Receptor, Melanocortin, Type 1
- Skin Neoplasms