Department of Oncology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Invest Ophthalmol Vis Sci. 2011 Jul 13;52(8):5220-5. doi: 10.1167/iovs.10-7096.
Refraction, as measured by spherical equivalent, is the need for an external lens to focus images on the retina. While genetic factors play an important role in the development of refractive errors, few susceptibility genes have been identified. However, several regions of linkage have been reported for myopia (2q, 4q, 7q, 12q, 17q, 18p, 22q, and Xq) and for quantitative refraction (1p, 3q, 4q, 7p, 8p, and 11p). To replicate previously identified linkage peaks and to identify novel loci that influence quantitative refraction and refractive errors, linkage analysis of spherical equivalent, myopia, and hyperopia in the Beaver Dam Eye Study was performed.
Nonparametric, sibling-pair, genome-wide linkage analyses of refraction (spherical equivalent adjusted for age, education, and nuclear sclerosis), myopia and hyperopia in 834 sibling pairs within 486 extended pedigrees were performed.
Suggestive evidence of linkage was found for hyperopia on chromosome 3, region q26 (empiric P = 5.34 × 10(-4)), a region that had shown significant genome-wide evidence of linkage to refraction and some evidence of linkage to hyperopia. In addition, the analysis replicated previously reported genome-wide significant linkages to 22q11 of adjusted refraction and myopia (empiric P = 4.43 × 10(-3) and 1.48 × 10(-3), respectively) and to 7p15 of refraction (empiric P = 9.43 × 10(-4)). Evidence was also found of linkage to refraction on 7q36 (empiric P = 2.32 × 10(-3)), a region previously linked to high myopia.
The findings provide further evidence that genes controlling refractive errors are located on 3q26, 7p15, 7p36, and 22q11.
折射，如等效球镜测量，是需要一个外部镜头来将图像聚焦在视网膜上。虽然遗传因素在屈光不正的发展中起着重要作用，但很少有易感基因被发现。然而，已经报道了几个近视（2q、4q、7q、12q、17q、18p、22q 和 Xq）和定量折射（1p、3q、4q、7p、8p 和 11p）的连锁区域。为了复制先前确定的连锁峰，并确定影响定量折射和屈光不正的新基因座，对 Beaver Dam Eye Study 中的等效球镜、近视和远视进行了连锁分析。
对 486 个扩展家系中的 834 对同胞进行了非参数、同胞对、全基因组连锁分析，分析了折射（调整年龄、教育和核硬化的等效球镜）、近视和远视。
在第 3 号染色体 q26 区域（经验 P = 5.34×10(-4)）发现远视的连锁证据，该区域显示出与折射和一些与远视有关的显著全基因组连锁证据。此外，该分析复制了先前报道的与调整后的折射和近视的 22q11 以及与折射的 7p15 全基因组显著连锁的结果（经验 P = 4.43×10(-3)和 1.48×10(-3)和 9.43×10(-4)）。还发现了与 7q36 折射（经验 P = 2.32×10(-3)）的连锁证据，该区域先前与高度近视有关。
这些发现进一步证明，控制屈光不正的基因位于 3q26、7p15、7p36 和 22q11。
