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
21498610
TITLE
Ophthalmic phenotypes and the representativeness of twin data for the general population.
ABSTRACT
PURPOSE NlmCategory: OBJECTIVE
To compare the distributional parameters for a series of ocular biometric traits between twins and their singleton siblings, to evaluate the generalizability of twin data, as used in heritability analyses to the general population.
METHODS NlmCategory: METHODS
To compare the distributional parameters for a series of ocular biometric traits between twins and their singleton siblings, to evaluate the generalizability of twin data, as used in heritability analyses to the general population. A series of birth, anthropometric, and 13 ocular biometric traits were selected for analysis: interpupillary distance (IPD), visual acuity (logMAR), spherical equivalent refractive error, corneal curvature, axial length, anterior chamber depth (ACD), central corneal thickness (CCT), intraocular pressure (IOP), optic disc, cup and rim areas, and measures of retinal vessel caliber; central retinal arteriolar equivalent (CRAE), and central retinal venular equivalent (CRVE). Structural equation modeling was used to test the assumption that the means and variances for each trait did not differ between twins and their siblings.
RESULTS NlmCategory: RESULTS
To compare the distributional parameters for a series of ocular biometric traits between twins and their singleton siblings, to evaluate the generalizability of twin data, as used in heritability analyses to the general population. A series of birth, anthropometric, and 13 ocular biometric traits were selected for analysis: interpupillary distance (IPD), visual acuity (logMAR), spherical equivalent refractive error, corneal curvature, axial length, anterior chamber depth (ACD), central corneal thickness (CCT), intraocular pressure (IOP), optic disc, cup and rim areas, and measures of retinal vessel caliber; central retinal arteriolar equivalent (CRAE), and central retinal venular equivalent (CRVE). Structural equation modeling was used to test the assumption that the means and variances for each trait did not differ between twins and their siblings. Significant differences in log-likelihood for birth weight and gestational age were observed between twins and siblings, with the latter being both heavier and closer to full-term at birth. Siblings were also found to have larger IPD and axial length, and better visual acuity compared with their twin counterparts. Refractive error, corneal curvature, ACD, CCT, optic disc parameters, and retinal vascular calibers did not differ significantly between the two groups.
CONCLUSIONS NlmCategory: CONCLUSIONS
To compare the distributional parameters for a series of ocular biometric traits between twins and their singleton siblings, to evaluate the generalizability of twin data, as used in heritability analyses to the general population. A series of birth, anthropometric, and 13 ocular biometric traits were selected for analysis: interpupillary distance (IPD), visual acuity (logMAR), spherical equivalent refractive error, corneal curvature, axial length, anterior chamber depth (ACD), central corneal thickness (CCT), intraocular pressure (IOP), optic disc, cup and rim areas, and measures of retinal vessel caliber; central retinal arteriolar equivalent (CRAE), and central retinal venular equivalent (CRVE). Structural equation modeling was used to test the assumption that the means and variances for each trait did not differ between twins and their siblings. Significant differences in log-likelihood for birth weight and gestational age were observed between twins and siblings, with the latter being both heavier and closer to full-term at birth. Siblings were also found to have larger IPD and axial length, and better visual acuity compared with their twin counterparts. Refractive error, corneal curvature, ACD, CCT, optic disc parameters, and retinal vascular calibers did not differ significantly between the two groups. Twins are representative of the general population for some but not all measures of ocular biometry. Consequently, care should be taken when extrapolating twin data for these traits in heritability and other genetic studies. Birth weight differences between twins and siblings do not appear to account for the differences in ocular biometry observed in this study.
DATE PUBLISHED
2011 Jul 29
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2011/04/19 06:00
pubmed 2011/04/19 06:00
medline 2011/10/01 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Sanfilippo PG Sanfilippo Paul G PG Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Medland SE Medland Sarah E SE
Hewitt AW Hewitt Alex W AW
Kearns LS Kearns Lisa S LS
Ruddle JB Ruddle Jonathan B JB
Sun C Sun Cong C
Hammond CJ Hammond Christopher J CJ
Young TL Young Terri L TL
Martin NG Martin Nicholas G NG
Mackey DA Mackey David A DA
INVESTIGATORS
JOURNAL
VOLUME: 52
ISSUE: 8
TITLE: Investigative ophthalmology & visual science
ISOABBREVIATION: Invest Ophthalmol Vis Sci
YEAR: 2011
MONTH: Jul
DAY: 29
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
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
R01 EY014685 NEI NIH HHS United States
R01 EY018246 NEI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Aged
Aged, 80 and over
Anterior Chamber anatomy & histology
Anthropometry methods
Biometry methods
Child methods
Child, Preschool methods
Cornea anatomy & histology
Eye anatomy & histology
Female anatomy & histology
Humans anatomy & histology
Infant, Newborn anatomy & histology
Intraocular Pressure anatomy & histology
Male anatomy & histology
Middle Aged anatomy & histology
Phenotype anatomy & histology
Pupil anatomy & histology
Retina anatomy & histology
Retinal Vessels anatomy & histology
Visual Acuity anatomy & histology
Young Adult anatomy & histology
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's