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
18552384
TITLE
Evidence of shared genes in refraction and axial length: the Genes in Myopia (GEM) twin study.
ABSTRACT
PURPOSE NlmCategory: OBJECTIVE
Axial length has been shown to explain up to 50% of the total variance in refraction, with axial length and refraction having a major genetic component. However, no study has attempted to determine whether the correlation between axial length and refraction is explained by shared genetic or environmental factors.
METHODS NlmCategory: METHODS
All twins from Victoria aged 18 years or older were invited to participate in the Genes in Myopia (GEM) twin study through the Australian Twin Registry (ATR). Each twin completed a general questionnaire and underwent dilated objective refraction assessment and measurement of axial length.
RESULTS NlmCategory: RESULTS
A total of 612 twin pairs (1224 twins) aged from 18 to 86 years were examined in the GEM twin study. Axial length correlated negatively with refraction (r = -0.64 in the men, r = -0.68 in the women; P < 0.01). The sex limitation ADE (A, additive genetic; D, dominant genetic; E, unique environmental factors) model provided the best-fit genetic model for both measures. Of the variation in spherical equivalence in both the men and the women, approximately 50% were due to genetic factors influencing axial length.
CONCLUSIONS NlmCategory: CONCLUSIONS
From these findings, it is likely that axial length and refraction share common genes in their etiology. The GEM twin study has provided a basis and direction for future research into identifying the gene(s) in axial length that will ultimately improve our understanding of the etiology of refractive error, particularly myopia.
DATE PUBLISHED
2008 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2008/06/14
pubmed 2008/06/17 09:00
medline 2008/10/11 09:00
entrez 2008/06/17 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Dirani M Dirani Mohamed M Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia. dirani@unimelb.edu.au.
Shekar SN Shekar Sri N SN
Baird PN Baird Paul N PN
INVESTIGATORS
JOURNAL
VOLUME: 49
ISSUE: 10
TITLE: Investigative ophthalmology & visual science
ISOABBREVIATION: Invest. Ophthalmol. Vis. Sci.
YEAR: 2008
MONTH: Oct
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1552-5783
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Invest Ophthalmol Vis Sci
COUNTRY: United States
ISSNLINKING: 0146-0404
NLMUNIQUEID: 7703701
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Aged
Aged, 80 and over
Body Weights and Measures
Diseases in Twins genetics
Eye pathology
Female pathology
Humans pathology
Male pathology
Middle Aged pathology
Models, Genetic pathology
Myopia genetics
Questionnaires genetics
Refraction, Ocular genetics
Registries genetics
Twins, Dizygotic genetics
Twins, Monozygotic genetics
Victoria genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's