title: Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
abstract: Human pigmentation is a polygenic trait which may be shaped by different kinds of gene-gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here we performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample we also analysed potential genetic interactions affecting variation in eye, hair and skin colour. Our results confirmed the association of HERC2 rs12913832 with eye colour and showed that this SNP is also significantly associated with skin and hair colouration. It is also concluded that OCA2 rs1800407 is independently associated with eye colour. Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample.
authors.affiliation: Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, Krakow, Poland. wbranicki@ies.krakow.pl
authors.forename: Wojciech
authors.initials: W
authors.lastname: Branicki
authors.forename: Urszula
authors.initials: U
authors.lastname: Brudnik
authors.forename: Anna
authors.initials: A
authors.lastname: Wojas-Pelc
mesh_terms: D054366:Agouti Signaling Protein / Q000235:genetics; D000951:Antigens, Neoplasm / Q000235:genetics; D004843:Epistasis, Genetic; D005127:Eye Color / Q000235:genetics*; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: C515182:ASIP protein, human; D054366:Agouti Signaling Protein; D000951:Antigens, Neoplasm; D020662:Guanine Nucleotide Exchange Factors; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D044102:Receptor, Melanocortin, Type 1; C510061:SLC45A2 protein, human; C118566:HERC2 protein, human; D044767:Ubiquitin-Protein Ligases