GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
Am J Hum Genet
; 89(2): 334-43, 2011 Aug 12.
Article
in En
| MEDLINE
| ID: mdl-21835309
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.
Full text:
1
Database:
MEDLINE
Main subject:
Eye Color
/
Iris
/
Body Patterning
/
Polymorphism, Single Nucleotide
/
Genome-Wide Association Study
/
Neurons
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Middle aged
Country/Region as subject:
Oceania
Language:
En
Journal:
Am J Hum Genet
Year:
2011
Type:
Article
Affiliation country:
Australia