ReviewGenetics2003
Sequences associated with human iris pigmentation.
Review in Genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 154 citations in OpenAlex.
- Functional polymorphisms in pigmentation-related genesBiochemistry and biophysics reports · 2026Article
- Genomic analysis reveals population structure and selection signatures in plateau dairy cattle.BMC genomics · 2025Article
- Genome-wide association study of genetic markers of coat color patterns in Sumatran native cattle.Veterinary world · 2024Article
- Skin proteomic screening and functional analysis of differential proteins associated with coat color in sheep (Ovis aries).Animal bioscience · 2024Article
- Dense single nucleotide polymorphism testing revolutionizes scope and degree of certainty for source attribution in forensic investigations.Croatian medical journal · 2024Review
- The association between iris color and refractive errors in children.Scientific reports · 2024Article
- Association between Variants in theGenes · 2023Article
- Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis.Life (Basel, Switzerland) · 2022Article
- Review
- Iris Colour and the Risk of Developing Uveal Melanoma.International journal of molecular sciences · 2020Review
- An approximate full-likelihood method for inferring selection and allele frequency trajectories from DNA sequence data.PLoS genetics · 2019Article
- Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches.Human genetics · 2019Article
- Global skin colour prediction from DNA.Human genetics · 2017Article
- Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour.Scientific reports · 2017Article
- Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics.International journal of legal medicine · 2016Article
- Evolutionary history inferred from the de novo assembly of a nonmodel organism, the blue-eyed black lemur.Molecular ecology · 2015Article
- Biogeographic Ancestry in the African Descent and Glaucoma Evaluation Study (ADAGES): Association With Corneal and Optic Nerve Structure.Investigative ophthalmology & visual science · 2015Article
- Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Prediction of eye color in the Slovenian population using the IrisPlex SNPs.Croatian medical journal · 2013Article
- Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry.BMC evolutionary biology · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To determine whether and how common polymorphisms are associated with natural distributions of iris colors, we surveyed 851 individuals of mainly European descent at 335 SNP loci in 13 pigmentation genes and 419 other SNPs distributed throughout the genome and known or thought to be informative for certain elements of population structure. We identified numerous SNPs, haplotypes, and diplotypes (diploid pairs of haplotypes) within the OCA2, MYO5A, TYRP1, AIM, DCT, and TYR genes and the CYP1A2-15q22-ter, CYP1B1-2p21, CYP2C8-10q23, CYP2C9-10q24, and MAOA-Xp11.4 regions as significantly associated with iris colors. Half of the associated SNPs were located on chromosome 15, which corresponds with results that others have previously obtained from linkage analysis. We identified 5 additional genes (ASIP, MC1R, POMC, and SILV) and one additional region (GSTT2-22q11.23) with haplotype and/or diplotypes, but not individual SNP alleles associated with iris colors. For most of the genes, multilocus gene-wise genotype sequences were more strongly associated with iris colors than were haplotypes or SNP alleles. Diplotypes for these genes explain 15% of iris color variation. Apart from representing the first comprehensive candidate gene study for variable iris pigmentation and constituting a first step toward developing a classification model for the inference of iris color from DNA, our results suggest that cryptic population structure might serve as a leverage tool for complex trait gene mapping if genomes are screened with the appropriate ancestry informative markers.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.