Heritabilities of Ocular Biometrical Traits in Two Croatian Isolates with Extended Pedigrees

Vitart, Véronique; Benčić, Goran; Hayward, Caroline; Herman, Jelena Škunca; Huffman, Jennifer E.; Campbell, Susan; Bućan, Kajo; Zgaga, Lina; Kolčić, Ivana; Polašek, Ozren; Campbell, Harry; Wright, Alan F.; Vatavuk, Zoran; Rudan, Igor

doi:10.1167/iovs.09-3720

Cited by 19 publications

(16 citation statements)

References 37 publications

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“…By comparing growth trajectories in children with the stature of their parents, Botton et al 40 have shown that this relatively straightforward scenario hides a complex interplay of maternal and paternal genetic, epigenetic or shared environment effects, alternating in their impact at different stages of childhood. Our findings regarding the growth trajectories of height (and weight) and ocular component dimensions at age 15, were in accordance with the consensus from previous work [13][14][15][16][17][18][19]25 , namely, that tall individuals tend to have larger eyes (a longer axial length and a flatter cornea). Again, however, the magnitude of these associations in the ALSPAC cohort was modest -explaining at most a few percent of the natural variation in AXL and RCC at age 15 years.…”

Section: Discussionsupporting

confidence: 92%

“…Indeed, studies in newborns, children and adults have demonstrated associations between body stature and axial eye length, providing indirect evidence for co-ordinated growth of the eye and body (after adjusting for the typically observed difference in axial length between the sexes) [11][12][13][14][15][16][17][18][19][20][21] . Direct support for a causal association comes from studies of individuals who fail to produce insulin-like growth factor 1 (IGF-1) due to growth hormone (GH) deficiency.…”

Section: Introductionmentioning

confidence: 99%

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Body Stature Growth Trajectories during Childhood and the Development of Myopia

et al. 2013

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Purpose-Stature at a particular age can be considered the cumulative result of growth during a number of preceding growth trajectory periods. We investigated whether height and weight growth trajectories from birth to age 10 years were related to refractive error at ages 11 and 15 years, and eye size at age 15 years. Design-Prospective analysis in a birth cohort.Participants-Children participating in the Avon Longitudinal Study of Parents and Children (ALSPAC) United Kingdom birth cohort (minimum N=2,676).Methods-Growth trajectories between birth and 10 years were modeled from a series of height and weight measurements (N=6,815). Refractive error was assessed by non-cycloplegic autorefraction at ages 11 and 15 years (minimum N=4,737). Axial length and radius of corneal curvature were measured with an IOLmaster at age 15 years (minimum N=2,676). Growth trajectories, and an allelic score for 180 genetic variants associated with adult height, were tested for association with refractive error and eye size.Main outcome measures-Non-cycloplegic autorefraction at ages 11 and 15 years, and axial length and corneal curvature at age 15 years.Results-Height growth trajectory during the linear phase between 2.5-10 years was negatively associated with refractive error at 11 and 15 years (P<0.001), but explained <0.5% of inter-subject variation. Height and weight growth trajectories, especially shortly after birth, were positively associated with axial length and corneal curvature (P<0.001), predicting 1-5% of trait variation. Height growth after 2.5 years was not associated with corneal curvature, whilst the association with axial length continued up to 10 years. The height allelic score was associated with corneal curvature (P=0.03) but not with refractive error or axial length.Address for correspondence and requests for reprints: Dr Kate Northstone, Department of Social Medicine, Oakfield House, Oakfield Grove, Clifton, Bristol, BS8 1TQ, UK, Tel: +44 (0) Conclusions-Up to the age of 10 years, shared growth mechanisms contribute to scaling of eye and body size but minimally to the development of myopia.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Body Stature Growth Trajectories during Childhood and the Development of Myopia

et al. 2013

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“…Chen et al, 2010), isolate population studies (e.g. Choh et al, 2001; Williams‐Blangero et al, 2002; Wijsman et al, 2003; Vitart et al, 2010;), in addition to studies from the Utah Population Database (e.g. Camp et al, 2006).…”

Section: Methodsmentioning

confidence: 99%

Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants

Knight

Abo

Abel

et al. 2012

Annals of Human Genetics

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Summary Shared genomic segment (SGS) analysis is a method that uses dense SNP genotyping in high-risk pedigrees to identify regions of sharing between cases. Here, we illustrate the power of SGS to identify dominant rare risk variants. Using simulated pedigrees, we consider 12 disease models based on disease prevalence, minor allele frequency, and penetrance to represent disease loci that explain 0.2% to 99.8% of total disease risk. Pedigrees were required to contain ≥15 meioses between all cases and to be high-risk based on significant excess of disease (p<0.001 or p<0.00001). Across these scenarios the power for a single pedigree ranged widely. Nonetheless, fewer than 10 pedigrees was sufficient for excellent power in the majority of the models. Power increased with the risk attributable to the disease locus, penetrance, and the excess of disease in the pedigree. Sharing allowing for one sporadic case was uniformly more powerful than sharing using all cases. Further, we do a SGS analysis using a large Attenuated Familial Adenomatous Polyposis pedigree and identified a 1.96 Mb region containing the known causal APC gene with genome-wide significance (p<5×10−7). SGS is a powerful method for detecting rare variants and offers a valuable complement to GWAS and linkage analysis.

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“…Heritability of ocular traits, the variation in a phenotypic trait that is attributable to genetic factors, can be high. For example, estimates for the heritability of IOP is 0.29–0.50, VCDR is 0.48–0.80, CCT is 0.71–0.95 and RNFL thickness is 0.48 (Chang et al, 2005; Charlesworth et al, 2010; Klein et al, 2004; Levene et al, 1970; Schwartz et al, 1975; Toh et al, 2005; van Koolwijk et al, 2007; Vitart et al, 2010a; Zheng et al, 2008). These traits, used to study and dissect a variety of ocular disorders, are individually addressed below.…”

Section: Genetic Analyses Of Poag-associated Traits (Endophenotypes)mentioning

confidence: 99%

Major review: Molecular genetics of primary open-angle glaucoma

Liu

Allingham

2017

Experimental Eye Research

123

106

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Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), the most common type, is a complex inherited disorder that is characterized by progressive retinal ganglion cell death, optic nerve head excavation, and visual field loss. The discovery of a large, and growing, number of genetic and chromosomal loci has been shown to contribute to POAG risk, which carry implications for disease pathogenesis. Differential gene expression analyses in glaucoma-affected tissues as well as animal models of POAG are enhancing our mechanistic understanding in this common, blinding disorder. In this review we summarize recent developments in POAG genetics and molecular genetics research.

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Heritabilities of Ocular Biometrical Traits in Two Croatian Isolates with Extended Pedigrees

Abstract: While heritabilities of CT and CC seemed uniformly high across studies of Caucasian datasets, estimates for SER varied widely and were at the lower end of the spectrum of published observations in our study.

Cited by 19 publications

References 37 publications

Body Stature Growth Trajectories during Childhood and the Development of Myopia

Body Stature Growth Trajectories during Childhood and the Development of Myopia

Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants

Major review: Molecular genetics of primary open-angle glaucoma

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