GWAS Findings for Human Iris Patterns: Associations with Variants in Genes that Influence Normal Neuronal Pattern Development

被引：53

作者：

Larsson, Mats ^{[1
,2
]}

Duffy, David L. ^{[1
]}

Zhu, Gu ^{[1
]}

Liu, Jimmy Z. ^{[1
]}

Macgregor, Stuart ^{[1
]}

McRae, Allan F. ^{[1
]}

Wright, Margaret J. ^{[1
]}

Sturm, Richard A. ^{[4
]}

Mackey, David A. ^{[3
,5
]}

Montgomery, Grant W. ^{[1
]}

Martin, Nicholas G. ^{[1
]}

Medland, Sarah E. ^{[1
]}

机构：

[1] Queensland Inst Med Res, Brisbane, Qld 4029, Australia

[2] Univ Orebro, Sch Law Psychol & Social Work, Res Dev Ctr, S-70182 Orebro, Sweden

[3] Univ Melbourne, Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, Melbourne, Vic 3002, Australia

[4] Univ Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia

[5] Univ Western Australia, Ctr Ophthalmol & Visual Sci, Lions Eye Inst, Perth, WA 6009, Australia

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2011年 / 89卷 / 02期

基金：

英国医学研究理事会; 瑞典研究理事会; 澳大利亚研究理事会; 美国国家卫生研究院;

关键词：

GENOMEWIDE ASSOCIATION; SEMAPHORIN; 3A; MELANOMA METASTASIS; EXPRESSION; PAX6; EYE; SCHIZOPHRENIA; PIGMENTATION; COMPLEX; LINKAGE;

D O I：

10.1016/j.ajhg.2011.07.011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：334 / 343

页数：10