The heritability of high myopia: a reanalysis of Goldschmidt's data

Guggenheim, Jeremy A.; Kirov, George; Hodson, Stuart

doi:10.1136/jmg.37.3.227

Cited by 98 publications

(86 citation statements)

References 38 publications

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“…The odds of a child becoming myopic rise with the number of myopic parents (7), and even the nonmyopic offspring of myopic parents have been shown to have longer eyes than nonmyopic children of nonmyopic parents (8). Twin studies add further support, indicating heritability values between 0.5 and 0.90 (9)(10)(11). Genome-wide association studies have identified putative gene loci on chromosomes 13q (12) and 15q (13,14), as well as genetic variants in CTNND2, as being associated with myopia (15).…”

Section: Introductionmentioning

confidence: 62%

SLITRK6 mutations cause myopia and deafness in humans and mice

Tekin¹,

Chioza²,

Matsumoto³

et al. 2013

J. Clin. Invest.

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Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SLIT and NTRK-like family, member 6 (SLITRK6), a leucine-rich repeat domain transmembrane protein. All 3 mutant SLITRK6 proteins displayed defective cell surface localization. High-resolution MRI of WT and Slitrk6-deficient mouse eyes revealed axial length increase in the mutant (the endophenotype of myopia). Additionally, mutant mice exhibited auditory function deficits that mirrored the human phenotype. Histological investigation of WT and Slitrk6-deficient mouse retinas in postnatal development indicated a delay in synaptogenesis in Slitrk6-deficient animals. Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness.

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Section: Introductionmentioning

confidence: 62%

SLITRK6 mutations cause myopia and deafness in humans and mice

Tekin¹,

Chioza²,

Matsumoto³

et al. 2013

J. Clin. Invest.

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“…[14][15][16][17] Results from family studies are in general inconclusive, but heritability studies have shown a higher inheritance of ocular dimensions than of refraction (Table 2).…”

Section: Proband and Family Studiesmentioning

confidence: 99%

Genetic and environmental effects on myopia development and progression

Goldschmidt¹,

Jacobsen

2013

Eye

126

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“…There have been fewer reports on the heritability of high myopia in twin studies as its prevalence is less in Western populations (2%-3%) compared to the prevalence of low/moderate myopia at 20% (Kempen et al, 2004). When heritability estimates in high myopia (worse than or equal to -6.00 DS) have been Jong et al, 1993;Guggenheim et al, 2000;Hoffman & Carey, 1942;Weber, 1941) while other twin studies have reported a reduction in heritability for high myopia (Karlsson, 1974;Lin & Chen, 1987;Meyer-Schwickerath, 1949). For example, Otsuka (1956) assessed refraction in 182 MZ twins and reported that MZ twin pairs with high myopia had levels of discordance of up to 5.50 DS in their refractive status compared to a 1.75 DS difference in MZ twin pairs with low/moderate myopia (Otsuka, 1956).…”

Section: Concordance Of High Myopiamentioning

confidence: 99%