Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, 54 Xianlie Road, Guangzhou, 510060, People's Republic of China.
Journal of Human Genetics (Impact Factor: 2.46). 02/2007; 52(5):469-72. DOI: 10.1007/s10038-007-0130-9
Source: PubMed


High myopia is a severe ocular condition affecting approximately 100 million people throughout the world. It is a common cause of blindness, and several studies have suggested it is transmitted through Mendelian traits. High myopia is clinically and genetically heterogeneous, with eight loci assigned. Most loci have not been confirmed by additional studies, and genes responsible for high myopia have not been identified. We recently studied a Chinese family with X-linked high myopia and mapped the high myopia locus to Xq25-q27.2. This linked region overlapped with that of MYP13 but was outside MYP1.

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Available from: Qingjiong Zhang, Sep 11, 2014
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    • "La plupart de ces régions chromosomiques identifiées par analyse de liaison n'ont pu être répliquées, à l'exception de la région Xq23-q27.2 (MYP13) dans l'ethnie chinoise Han [21] et des régions 4q25 (MYP11), 5p15 (MYP16), 12q2 (MYP3) et 18p11 (MYP2) qui ont été confirmées par des analyses d'association. Au final, ces analyses de liaison familiale ont amené à la localisation d'un seul gène impliqué dans la pathogénie de la myopie forte. "
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    ABSTRACT: Myopia is the most frequent refractive disorder in the world. It has become a real Public Health problem, due to its frequency and to high myopia-related blinding complications. Myopic progression depends on genetic and environmental factors. Genetic studies have identified more than forty candidate genes that take part in pathophysiological pathways, from retinal phototransduction to axial lengthening via scleral remodelling. Environmental factors also influence scleral remodelling by way of visual perception. In the case of predominant attention to near tasks, a physiological feedback loop leads to axial growth. This phenomenon, called active emmetropization, is particularly obvious in animal models and in some human populations. To date, research has failed to identify a molecule common to all the implicated metabolic pathways which could be a target for an effective preventive treatment against myopic progression.
    Full-text · Article · Mar 2014 · Journal francais d'ophtalmologie
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    • "Molecular genetic studies have identified several loci associated with a predisposition to myopia [10–27]. However, the genes at most of these loci remain to be identified [28,29]. "
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    ABSTRACT: Two previous genome-wide association studies (GWAS) of high myopia in a Japanese population found several single nucleotide polymorphisms (SNPs) associated with the disease. The present study examined whether these markers are associated with myopia in a Chinese population. Individuals with or without complex myopia were recruited from Chinese university students, and probands with early onset high myopia were identified in the Pediatric and Genetic Eye Clinic of the Zhongshan Ophthalmic Center. DNA was prepared from venous leukocytes. Three SNPs, rs577948 and rs11218544 at chromosome position 11q24.1 and rs2839471 at chromosome position 21q22.3, were genotyped. The allele and genotype frequencies of these SNPs were compared between the myopia cases and controls using a χ(2) test. A total of 2,870 subjects were examined in this study, including 1,255 individuals with complex myopia (-10.00 diopter (D)<spherical refraction≤-4.00 D), 563 with early onset high myopia (spherical refraction≤-6.00 D), and 1,052 healthy controls (-0.50 D≤spherical equivalent≤ +2.00 D). There were no statistically significant differences found for the genotype or allele frequencies of the three SNPs between the myopia cases and controls in the Chinese population under study. We did not find evidence for the association of myopia with rs577948, rs11218544, or rs2839471 in the Chinese population studied.
    Full-text · Article · Dec 2011 · Molecular vision
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    • "Under a similar environment and with similar reading behavior, some individuals develop myopia but others do not, suggesting a genetic background involvement. Linkage and association studies on the nuclear genome have demonstrated the importance of genetic factors in the development of myopia, especially high-grade myopia [22-25]. However, the exact molecular basis for most myopia remains unknown. "
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    ABSTRACT: Mitochondrial DNA (mtDNA) haplogroups affect the clinical expression of Leber hereditary optic neuropathy, age-related macular degeneration, and other diseases. The objective of this study is to investigate whether an mtDNA background is associated with myopia. Blood DNA was obtained from 192 college students, including 96 individuals with moderate-to-high myopia and 96 controls without myopia. All the subjects were from a well-known isolated population living in the Chaoshan area of east Guangdong Province and speaking one of the four major dialects in southern China. The mtDNA haplogroups in the 192 subjects were determined by sequencing the mtDNA control region and partial coding regions as well as by analysis of restriction fragment length polymorphisms. Each mtDNA was classified according to the updated version of the Eastern Asian haplogroup system. Sixteen mtDNA haplogroups were recognized in the 192 subjects. The overall matrilineal structures of the samples with and without myopia were similar and had genetic imprints showing their ethno-origin. There was no statistical difference in frequencies of haplogroup distribution between subjects with and without myopia (chi(2) test, p=0.556). We failed to identify clues that suggest an involvement of mtDNA background in the predisposition to myopia.
    Full-text · Article · Feb 2010 · Molecular vision
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