GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development

Larsson, Mats, Duffy, David L., Zhu, Gu, Liu, Jimmy Z., Macgregor, Stuart, McRae, Allan F., Wright, Margaret J., Sturm, Richard A., Mackey, David A., Montgomery, Grant W., Martin, Nicholas G. and Medland, Sarah E. (2011) GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development. American Journal of Human Genetics, 89 2: 334-343. doi:10.1016/j.ajhg.2011.07.011


Author Larsson, Mats
Duffy, David L.
Zhu, Gu
Liu, Jimmy Z.
Macgregor, Stuart
McRae, Allan F.
Wright, Margaret J.
Sturm, Richard A.
Mackey, David A.
Montgomery, Grant W.
Martin, Nicholas G.
Medland, Sarah E.
Title GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
1537-6605
Publication date 2011-08
Sub-type Article (original research)
DOI 10.1016/j.ajhg.2011.07.011
Volume 89
Issue 2
Start page 334
End page 343
Total pages 10
Place of publication Cambridge, MA, United States
Publisher Cell Press
Collection year 2012
Language eng
Formatted 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 x 10-11), (2) furrow contractions and variants within the cytoskeleton gene TRAF3IP1 (p = 2.3 x 10-12), and (3) the pigmented ring and variants in the well-known pigmentation gene SLC24A4 (p = 7.6 x 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. 
Keyword Genome-Wide Association
Semaphorin 3a
Transcription Factor
Melanoma Metastasis
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
Institute for Molecular Bioscience - Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 14 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 17 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Sun, 11 Sep 2011, 21:29:05 EST by System User on behalf of Institute for Molecular Bioscience