title: Association of the SLC45A2 gene with physiological human hair colour variation.
abstract: Pigmentation is a complex physical trait with multiple genes involved. Several genes have already been associated with natural differences in human pigmentation. The SLC45A2 gene encoding a transporter protein involved in melanin synthesis is considered to be one of the most important genes affecting human pigmentation. Here we present results of an association study conducted on a population of European origin, where the relationship between two non-synonymous polymorphisms in the SLC45A2 gene - rs26722 (E272K) and rs16891982 (L374F) - and different pigmentation traits was examined. The study revealed a significant association between both variable sites and normal variation in hair colour. Only L374F remained significantly associated with hair colour when both SNPs were included in a logistic regression model. No association with other pigmentation traits was detected in this population sample. Our results indicate that the rare allele L374 significantly increases the possibility of having black hair colour (OR = 7.05) and thus may be considered as a future marker for black hair colour prediction.
authors.affiliation: Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033, Krakow, Poland. wbranicki@ies.krakow.pl.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Branicki
authors.affiliation: Department of Dermatology, Collegium Medicum of the Jagiellonian University, Kopernika 19, 31-501, Krakow, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Brudnik
authors.affiliation: Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033, Krakow, Poland.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Draus-Barini
authors.affiliation: Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033, Krakow, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Kupiec
authors.affiliation: Department of Dermatology, Collegium Medicum of the Jagiellonian University, Kopernika 19, 31-501, Krakow, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Wojas-Pelc
mesh_terms: D000328:Adult; D000368:Aged; D000951:Antigens, Neoplasm / Q000235:genetics*; D005127:Eye Color / Q000235:genetics; D005260:Female; D005838:Genotype; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics
chemical_list: D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human