Retinal vascular caliber: systemic, environmental, and genetic associations

C Sun, JJ Wang, DA Mackey, TY Wong - Survey of ophthalmology, 2009 - Elsevier
Quantitative studies of retinal vascular caliber using new computer-assisted retinal imaging
systems have allowed physicians and researchers to understand the influence of systemic …

Genetics of human iris colour and patterns

RA Sturm, M Larsson - Pigment cell & melanoma research, 2009 - Wiley Online Library
The presence of melanin pigment within the iris is responsible for the visual impression of
human eye colouration with complex patterns also evident in this tissue, including Fuchs' …

Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings

PM Visscher, SE Medland, MAR Ferreira… - PLoS …, 2006 - journals.plos.org
The study of continuously varying, quantitative traits is important in evolutionary biology,
agriculture, and medicine. Variation in such traits is attributable to many, possibly interacting …

IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information

S Walsh, F Liu, KN Ballantyne, M van Oven… - Forensic Science …, 2011 - Elsevier
A new era of 'DNA intelligence'is arriving in forensic biology, due to the impending ability to
predict externally visible characteristics (EVCs) from biological material such as those found …

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 …

H Eiberg, J Troelsen, M Nielsen, A Mikkelsen… - Human genetics, 2008 - Springer
The human eye color is a quantitative trait displaying multifactorial inheritance. Several
studies have shown that the OCA2 locus is the major contributor to the human eye color …

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color

RA Sturm, DL Duffy, ZZ Zhao, FPN Leite… - The American Journal of …, 2008 - cell.com
We have previously demonstrated that haplotypes of three single nucleotide polymorphisms
(SNPs) within the first intron of the OCA2 gene are extremely strongly associated with …

Global skin colour prediction from DNA

S Walsh, L Chaitanya, K Breslin, C Muralidharan… - Human genetics, 2017 - Springer
Human skin colour is highly heritable and externally visible with relevance in medical,
forensic, and anthropological genetics. Although eye and hair colour can already be …

Genetics of pigmentation in skin cancer—a review

D Scherer, R Kumar - Mutation Research/Reviews in Mutation Research, 2010 - Elsevier
Skin pigmentation is one of the most overt human physical traits with consequences on
susceptibility to skin cancer. The variations in skin pigmentation are dependent on …

A three–single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

DL Duffy, GW Montgomery, W Chen, ZZ Zhao… - The American Journal of …, 2007 - cell.com
We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q
accounts for 74% of variation in human eye color. We conducted additional genotyping to …

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene

M Kayser, F Liu, ACJW Janssens, F Rivadeneira… - The American Journal of …, 2008 - cell.com
Human iris color was one of the first traits for which Mendelian segregation was established.
To date, the genetics of iris color is still not fully understood and is of interest, particularly in …