ArticleAmerican journal of human genetics2011
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 6 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 6 syntheses or guidelines pooled it, 76 citations in OpenAlex.
- A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma.Nature communications · 2026Pooled it
- GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology.Nature communications · 2025Pooled it
- Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.Frontiers in aging neuroscience · 2021Pooled it
- Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.Nature genetics · 2018Pooled it
- Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci.PLoS genetics · 2016Pooled it
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.Nature genetics · 2013Pooled it
- Exploring the relationship between the density of the iris color and bipolar disorder: a case-control study, Egypt.Annals of general psychiatry · 2025Article
- Iris Pigmented Lesions: Unraveling the Genetic Basis of Iris Freckles and Nevi.Investigative ophthalmology & visual science · 2025Article
- Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology.Nature communications · 2025Article
- Transcriptome-Wide Association Study Reveals New Molecular Interactions Associated with Melanoma Pathogenesis.Cancers · 2024Article
- The Role of RIN3 Gene in Alzheimer's Disease Pathogenesis: a Comprehensive Review.Molecular neurobiology · 2024Review
- Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Genetic knowledge and attitudes towards genetic testing among final-year medical students at a public university in Ecuador.Frontiers in medicine · 2024Article
- Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan.Biomedicines · 2023Article
- Dispositional mindfulness and BIS/BAS up-close: can the self-regulation of people be seen in the eyes?Frontiers in psychology · 2023Article
- What colour are your eyes? Teaching the genetics of eye colour & colour vision. Edridge Green Lecture RCOphth Annual Congress Glasgow May 2019.Eye (London, England) · 2022Review
- Genome-wide association study and functional validation implicates JADE1 in tauopathy.Acta neuropathologica · 2022Article
- Forensic age estimation from human blood using age-related microRNAs and circular RNAs markers.Frontiers in genetics · 2022Article
- Study on the Correlation Between Iris Characteristics and Schizophrenia.Neuropsychiatric disease and treatment · 2022Article
- Searching for improvements in predicting human eye colour from DNA.International journal of legal medicine · 2021Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
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Abstract
Human iris patterns are highly variable. The origins of this variation are of interest in the study of iris-related eye diseases and forensics, as well as from an embryological developmental perspective, with regard to their possible relationship to fundamental processes of neurodevelopment. We have performed genome-wide association scans on four iris characteristics (crypt frequency, furrow contractions, presence of peripupillary pigmented ring, and number of nevi) in three Australian samples of European descent. Both the discovery (n = 2121) and replication (n = 499 and 73) samples showed evidence for association between (1) crypt frequency and variants in the axonal guidance gene SEMA3A (p = 6.6 × 10(-11)), (2) furrow contractions and variants within the cytoskeleton gene TRAF3IP1 (p = 2.3 × 10(-12)), and (3) the pigmented ring and variants in the well-known pigmentation gene SLC24A4 (p = 7.6 × 10(-21)). These replicated findings individually accounted for around 1.5%-3% of the variance for these iris characteristics. Because both SEMA3A and TRAFIP1 are implicated in pathways that control neurogenesis, neural migration, and synaptogenesis, we also examined the evidence of enhancement among such genes, finding enrichment for crypts and furrows. These findings suggest that genes involved in normal neuronal pattern development may also influence tissue structures in the human iris.
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