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Sclera-related gene polymorphisms in high myopia.

ABSTRACT: Transforming growth factor-beta2 (TGF-beta2), basic fibroblast growth factor (bFGF), and fibromodulin (FMOD) are important extracellular matrix components of the sclera and have been shown to be associated with the development of high myopia. Our aim was to examine the association between myopia and the polymorphisms within TGF-beta2, bFGF, and FMOD.The study group comprised of patients (n=195; age range: 17-24 years) with a spherical equivalent of -6.5 diopters (D) or a more negative refractive error. The control group comprised of individuals (n=94; age range: 17-25 years) with a spherical equivalent ranging from -0.5 D to +1.0 D. The subjects with astigmatism over -0.75 D were excluded from the study. High resolution melting (HRM) genotyping and restriction fragment length polymorphism (RFLP) genotyping were used to detect single nucleotide polymorphisms (SNPs). The polymorphisms detected were TGF-beta2 (rs7550232 and rs991967), bFGF (rs308395 and rs41348645), and FMOD (rs7543418). Moreover, a stepwise logistic regression procedure was used to detect which of the significant SNPs contributed to the main effects of myopia development.There were significant differences in the frequency of the A allele and A/A genotype in TGF-beta2 (rs7550232; p=0.0178 and 0.03, respectively). Moreover, the haplotype distribution of haplotype 2 (Ht2; A/A) of TGF-beta2 differed significantly between the two groups (p=0.014). The results of the stepwise logistic regression procedure revealed that TGF-beta2 (rs7550232) contributed significantly to the development of high myopia.TGF-beta2 is an important structure of sclera and might contribute to the formation of myopia. TGF-beta2 (rs7550232) polymorphisms, A allele and A/A genotype, had a protective role against the development of high myopia.

SUBMITTER: Lin HJ

PROVIDER: S-EPMC2730748 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature

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Sclera-related gene polymorphisms in high myopia.

Lin Hui-Ju HJ Wan Lei L Tsai Yuhsin Y Liu Su-Ching SC Chen Wen-Chi WC Tsai Shih-Wei SW Tsai Fuu-Jen FJ

Molecular vision 20090820

<h4>Purpose</h4>Transforming growth factor-beta2 (TGF-beta2), basic fibroblast growth factor (bFGF), and fibromodulin (FMOD) are important extracellular matrix components of the sclera and have been shown to be associated with the development of high myopia. Our aim was to examine the association between myopia and the polymorphisms within TGF-beta2, bFGF, and FMOD.<h4>Methods</h4>The study group comprised of patients (n=195; age range: 17-24 years) with a spherical equivalent of -6.5 diopters ( ...[more]

PMID: 19710942

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Project description:PURPOSE: Recent work has suggested that insulin-like growth factor 1 (IGF-1) gene polymorphisms are genetically linked with high-grade myopia (HM), which is a complex-trait eye disorder in which numerous candidate loci and genes are thought to play a role. We investigated whether the IGF-1 single nucleotide polymorphisms (SNPs) rs6214, rs10860860, and rs2946834 are associated with HM (?-6.0 diopters [D]) and any myopia (?-0.5 D) phenotype in Polish families. METHODS: Forty-two multiplex HM Polish families, of whom 127 had HM, participated in the study. All of the family members (n=306) underwent a detailed ophthalmic examination, including axial length measurements. The IGF-1 SNPs rs6214, rs10860860, and rs2946834 were evaluated by PCR-RFLP and direct sequencing methods. Both Family-Based Association Test (FBAT) and family-based Pedigree Disequilibrium Test (PDT) were used to examine the potential association of the IGF-1 SNPs rs6214, rs10860860, and rs2946834 with HM or any myopia. To determine the distribution of the HM-associated SNPs rs6214 and rs10860860, 543 unrelated individuals from the general Polish population were also analyzed. RESULTS: We found no significant association between the IGF-1 SNPs rs6214, rs10860860, and rs2946834 and HM or any myopia phenotype in Polish HM families. In the general Polish population, the minor allele frequencies of the SNPs rs6214 and rs10860860 did not deviate significantly from the distribution reported for European populations (p=0.629). In the FBAT analysis under the dominant model, the haplotype consisted of T allele of rs10860860, with C allele of rs2946834 of IGF-1 was found less frequently transmitted to HM individuals (p=0.0065), pointing to a nonassociated or protective haplotype. CONCLUSIONS: Our results do not support recent studies reporting an association of the SNPs rs6214, rs10860860, and rs2946834 in the IGF-1 gene with HM and any myopia phenotypes. Further replication studies involving other populations are needed to investigate the possible role of IGF-1 as a potential myopia candidate gene.

Dataset Information

Sclera-related gene polymorphisms in high myopia.

Publications

Sclera-related gene polymorphisms in high myopia.

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