title: Genetic determinants of hair and eye colours in the Scottish and Danish populations.
abstract: BACKGROUND
  Eye and hair colour is highly variable in the European population, and is largely genetically determined. Both linkage and association studies have previously been used to identify candidate genes underlying this variation. Many of the genes found were previously known as underlying mutant mouse phenotypes or human genetic disease, but others, previously unsuspected as pigmentation genes, have also been discovered.
  
  
  RESULTS
  We assayed the hair of a population of individuals of Scottish origin using tristimulus colorimetry, in order to produce a quantitative measure of hair colour. Cluster analysis of this data defined two groups, with overlapping borders, which corresponded to visually assessed dark versus red/light hair colour. The Danish population was assigned into categorical hair colour groups. Both cohorts were also assessed for eye colour. DNA from the Scottish group was genotyped at SNPs in 33 candidate genes, using 384 SNPs identified by HapMap as representatives of each gene. Associations found between SNPs and colorimetric hair data and eye colour categories were replicated in a cohort of the Danish population. The Danish population was also genotyped with SNPs in 4 previously described pigmentation genes. We found replicable associations of hair colour with the KITLG and OCA2 genes. MC1R variation correlated, as expected, with the red dimension of colorimetric hair colour in Scots. The Danish analysis excluded those with red hair, and no associations were found with MC1R in this group, emphasising that MC1R regulates the colour rather than the intensity of pigmentation. A previously unreported association with the HPS3 gene was seen in the Scottish population. However, although this replicated in the smaller cohort of the Danish population, no association was seen when the whole study population was analysed.
  
  
  CONCLUSIONS
  We have found novel associations with SNPs in known pigmentation genes and colorimetrically assessed hair colour in a Scottish and a Danish population.
authors.affiliation: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK. jmengel76@hotmail.com
authors.forename: Jonas
authors.initials: J
authors.lastname: Mengel-From
authors.forename: Terence H
authors.initials: TH
authors.lastname: Wong
authors.forename: Niels
authors.initials: N
authors.lastname: Morling
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Rees
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Jackson
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D003718:Denmark; D005127:Eye Color; D005260:Female; D006200:Hair Color; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D026901:Membrane Transport Proteins; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D012606:Scotland; D019089:Stem Cell Factor / Q000235:genetics; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; C432680:HPS3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D044102:Receptor, Melanocortin, Type 1; D019089:Stem Cell Factor