Oral Presentation 2015 Annual Meeting of the Australasian Society for Dermatology Research

Comparison of Australian and German case-control studies melanoma:  analysis of PGC-1a and PGC-1b coding variant alleles (#32)

Annette Pflugfelder 1 2 , Kasturee Jagirdar 1 , Xuan L Yong 1 , Katie Lee 1 , Benjamin Weide 2 , Thomas K Eigentler 2 , Aaron Smith 1 3 , David Duffy 4 , Claus Garbe 2 , Richard Sturm 1 , H. Peter Soyer 1 5
  1. Dermatology Research Centre, The University of Queensland, School of Medicine, Translational Research Institute, Brisbane, QLD, Australia
  2. Center of Dermatooncology, Department of Dermatology, University of Tübingen, Tübingen, Germany
  3. School of Biomedical Sciences, University of Queensland, St Lucia, Brisbane , Australia
  4. Genetic Epidemiology, QIMR Berghofer Institute of Medical Research, Herston, QLD, Australia
  5. Department of Dermatology, Princess Alexandra Hospital, Brisbane, Australia

Melanoma is responsible for about 2500 deaths in Germany and 1500 deaths in Australia per year with one of the world highest incidence rates in the sunshine state Queensland, Australia.  Total body nevus count has been established as a major host risk factor for melanoma development. Melanocytic nevi and melanoma are both linked to sun exposure and furthermore specific genetic polymorphisms have been found to contribute to the risk for both nevus and melanoma development.  Recently the PGC-1a and PGC-1b proteins have been linked to melanoma cell behaviour and genetic polymorphisms associated with tanning ability. To elucidate the correlation of sun exposure, genetic background and nevus development as well as melanoma risk, two cohorts of melanoma patients and controls have been collected in Queensland, Australia and Tuebingen, Germany.  Sample collection was done according to a similar protocol, including total body nevus count and other phenotypic data, family history and data regarding sun exposure. The Queensland cohort includes dermoscopic nevi images of each participant while clinical follow up including disease stage, progression and treatment schedules are recorded for the German cohort. This will allow analyses of genetic as well as phenotypic characteristics of patients with primary melanoma compared to patients with metastatic disease.  Baseline characteristics of the two cohorts as well as first findings will be presented.  Sanger sequencing and Illumina CoreExome Chip genotyping of PGC-1a and PGC-1b loci are being performed to allow genetic association studies to be performed.