Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
21835309
TITLE
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
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.
Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
DATE PUBLISHED
2011 Aug 12
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2011/02/15
revised 2011/07/15
accepted 2011/07/18
entrez 2011/08/13 06:00
pubmed 2011/08/13 06:00
medline 2011/10/11 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Larsson M Larsson Mats M Queensland Institute of Medical Research, Brisbane, Australia. mats.larsson@oru.se
Duffy DL Duffy David L DL
Zhu G Zhu Gu G
Liu JZ Liu Jimmy Z JZ
Macgregor S Macgregor Stuart S
McRae AF McRae Allan F AF
Wright MJ Wright Margaret J MJ
Sturm RA Sturm Richard A RA
Mackey DA Mackey David A DA
Montgomery GW Montgomery Grant W GW
Martin NG Martin Nicholas G NG
Medland SE Medland Sarah E SE
INVESTIGATORS
JOURNAL
VOLUME: 89
ISSUE: 2
TITLE: American journal of human genetics
ISOABBREVIATION: Am J Hum Genet
YEAR: 2011
MONTH: Aug
DAY: 12
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1537-6605
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTID AGENCY COUNTRY
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GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Australia
Body Patterning genetics
Child genetics
Child, Preschool genetics
Eye Color genetics
Genome-Wide Association Study genetics
Humans genetics
Iris metabolism
Middle Aged metabolism
Neurons metabolism
Nevus genetics
Phenotype genetics
Polymorphism, Single Nucleotide genetics
Reproducibility of Results genetics
Young Adult genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
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