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Purpose:To determine genetic linkage between myopia and Han Chinese patients with a family history of the disease. Methods:One hundred seventy-six Han Chinese patients from 34 extended families were given eye examinations, and mean spherical equivalent (MSE) in diopters (D) was calculated by adding the spherical component of the refraction to one-half the cylindrical component and taking the average of both eyes. The MSE was converted to a binary phenotype, where all patients with an MSE of -1.00 D or less were coded as affected. Unaffected individuals had an MSE greater than 0.00 D (ages 21 years and up), +1.50 (ages 11-20), or +2.00 D (ages 6-10 years). Individuals between the given upper threshold and -1.00 were coded as unknown. Patients were genotyped on an exome chip. Three types of linkage analyses were performed: single-variant two-point, multipoint, and collapsed haplotype pattern (CHP) variant two-point. Results:The CHP variant two-point results identified a significant peak (heterogeneity logarithm of the odds [HLOD] = 3.73) at 10q26.13 in TACC2. The single-variant two-point and multipoint analyses showed highly suggestive linkage to the same region. The single-variant two-point results identified 25 suggestive variants at HTRA1, also at 10q26.13. Conclusions:We report a significant genetic linkage between myopia and Han Chinese patients at 10q26.13. 10q26.13 contains several good candidate genes, such as TACC2 and the known age-related macular degeneration gene HTRA1. Targeted sequencing of the region is planned to identify the causal variant(s).

Type

Journal article

Journal

Molecular vision

Publication Date

14/01/2018

Volume

24

Pages

29 - 42

Addresses

Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD.

Keywords

Chromosomes, Human, Pair 10, Humans, Myopia, Genetic Predisposition to Disease, Carrier Proteins, Tumor Suppressor Proteins, Retrospective Studies, Family, Haplotypes, Adult, Aged, Child, Asian Continental Ancestry Group, Female, Male, Genetic Loci, Genetic Linkage, High-Temperature Requirement A Serine Peptidase 1