title: Current opportunities and challenges: genome-wide association studies on pigmentation and skin cancer.
abstract: Genome-wide association studies (GWAS) have become a widely used approach for genetic association studies of various human traits. A few GWAS have been conducted with the goal of identifying novel loci for pigmentation traits, melanoma, and non-melanoma skin cancer. Nevertheless, the phenotype variation explained by the genetic markers identified so far is limited. In this review, we discuss the GWAS study design and its application in pigmentation and skin cancer research. Furthermore, we summarize recent developments in post-GWAS activities such as meta-analysis, pathway analysis, and risk prediction.
authors: Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA.
authors: Shasha
authors: S
authors: Meng
authors: Mingfeng
authors: M
authors: Zhang
authors: Liming
authors: L
authors: Liang
authors: Jiali
authors: J
authors: Han
mesh_terms: D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D019655:Quantitative Trait, Heritable; D012107:Research Design; D012878:Skin Neoplasms / Q000235:genetics* / Q000503:physiopathology*; D012880:Skin Pigmentation / Q000235:genetics*