Genetic Determinants of Skin Color, Aging, and Cancer

Chapter 1 gives a general introduction to this thesis. In Chapter 2 we validated perceived skin color as skin color measurement. In Chapter 3 we investigated whether digitally quantified skin color was a suitable measure to discover new skin color genes. In Chapter 4 we investigated the genetic basis of skin color by a genome-wide association study followed by a replication analysis in 17,262 individuals of European ancestry from the Netherlands, UK and Australia. In Chapter 5 we validated a new digital image analysis technique to measure severity of different skin aging features including wrinkling, pigmented spots and telangiectasia. In Chapter 6 we have used the digitally quantified pigmented spots measures to search for associated genetic variants. In Chapter 7 we studied intrinsic and extrinsic risk factors for the skin aging feature sagging eyelids. In Chapter 8 we investigated genetic susceptibility to the pre-malignant actinic keratosis. In Chapter 9 we have summarized the pattern of genetic association between 13 genes and pigmentation traits, pigmented spots, and cutaneous malignancies. In Chapter 10 we discuss the results of all studies in this thesis.