Abstract
Introduction Even though ocular refractive state is highly heritable and under strong genetic control, the identification of susceptibility genes remains a challenge. Several HGF (hepatocyte growth factor) gene variants have been associated with ocular refractive errors and corneal pathology. Purpose Here, we assess the association of an HGF gene variant, previously reported as associated with hyperopia, and ocular biometric parameters in a multicenter Spanish cohort. Methods An observational prospective multicenter cross-sectional study was designed, including a total of 403 unrelated subjects comprising 188 hyperopic children (5 to 17 years) and 2 control groups: 52 emmetropic adolescents (13 to 17 years) and 163 emmetropic young adults (18 to 28 years). Each individual underwent a comprehensive eye examination including cycloplegic refraction, and topographic and ocular biometric analysis. Genomic DNA was extracted from oral swabs. HGF single nucleotide polymorphism (SNP) rs12536657 was genotyped. Genotypic, allelic, and logistic regression analyses were performed comparing the different groups. A quantitative trait association test analyzing several biometric parameters was also performed using generalized estimating equations (GEEs) adjusting for age and gender. Results No association between rs12536657 and hyperopia was found through gender-adjusted logistic regression comparing the hyperopic children with either of the two control groups. Significant associations between mean topographic corneal curvature and rs12536657 for G/A (slope = +0.32; CI 95%: 0.04–0.60; p=0.023) and A/A (slope = +0.76; CI 95%: 0.12–1.40; p=0.020) genotypes were observed with the age- and gender-adjusted univariate GEE model. Both flat and steep corneal topographic meridians were also significantly associated with rs12536657 for the G/A and A/A genotypes. No association was found between rs12536657 and any other topographic or biometric measurements. Conclusions Our results support a possible role for HGF gene variant rs12536657 in corneal curvature in our population. To our knowledge, this is the first multicenter quantitative trait association study of HGF genotypes and ocular biometric parameters comprising a pediatric cohort.
Highlights
Even though ocular refractive state is highly heritable and under strong genetic control, the identification of susceptibility genes remains a challenge
The popular belief that hyperopia diminishes with age appears not to be true for at least some hyperopic children who may have problems becoming emmetropic, and this is sometimes associated with an increase of accommodative lag [18,19,20]. erefore, we wanted to focus our genetic study on moderate and high hyperopic school-age children, a population that represents a vulnerable group for the conditions associated with hyperopia at these specific ages, which may have effects on the learning process
A total of 403 individuals (194 males and 209 females), including 188 hyperopic children (5 to 17 years; spherical equivalent (SE): ≥+3.50 D), 52 emmetropic children (13 to 17 years; SE: >−0.50 D −0.50 D
Summary
Even though ocular refractive state is highly heritable and under strong genetic control, the identification of susceptibility genes remains a challenge. Several HGF (hepatocyte growth factor) gene variants have been associated with ocular refractive errors and corneal pathology. No association between rs12536657 and hyperopia was found through gender-adjusted logistic regression comparing the hyperopic children with either of the two control groups. Significant associations between mean topographic corneal curvature and rs12536657 for G/ A (slope +0.32; CI 95%: 0.04–0.60; p 0.023) and A/A (slope +0.76; CI 95%: 0.12–1.40; p 0.020) genotypes were observed with the age- and gender-adjusted univariate GEE model. Our results support a possible role for HGF gene variant rs12536657 in corneal curvature in our population To our knowledge, this is the first multicenter quantitative trait association study of HGF genotypes and ocular biometric parameters comprising a pediatric cohort. The popular belief that hyperopia diminishes with age appears not to be true for at least some hyperopic children who may have problems becoming emmetropic, and this is sometimes associated with an increase of accommodative lag [18,19,20]. erefore, we wanted to focus our genetic study on moderate and high hyperopic school-age children, a population that represents a vulnerable group for the conditions associated with hyperopia at these specific ages, which may have effects on the learning process
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