Linkage Analysis of Quantitative Refraction and Refractive Errors in the Beaver Dam Eye Study
Linkage Analysis of Quantitative Refraction and Refractive Errors in the Beaver Dam Eye Study
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DOI：
10.1167/iovs.10-7096
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发表时间：
2011-07-01
影响因子：
4.4
通讯作者：
Klein, Barbara E. K.
中科院分区：
文献类型：
--
作者：
Klein, Alison P.;Duggal, Priya;Klein, Barbara E. K.
目的。折射率，用球面当量来衡量，是指需要一个外部透镜将图像聚焦到视网膜上。虽然遗传因素在屈光不正的发生发展中起着重要作用，但几乎没有发现易感基因。然而，近视的几个连锁区域(2q、4q、7q、12q、17q、18p、22q和xq)和定量屈光(1p、3q、4q、7p、8p和11p)已被报道。方法：对486个扩展家系中834对同胞对屈光不正、近视和远视进行非参数、同胞配对、全基因组连锁分析。结果：在染色体3，区域Q26(经验P=5.34×10(-4))，这一区域已经显示出全基因组范围内与屈光相关的显着证据，以及与远视相关的一些证据。此外，这项分析复制了先前报道的全基因组范围内与22q11调整屈光度和近视(经验P=4.43×10(-3)和1.48×10(-3))以及与7p15屈光度(经验P=9.43×10(-4))的显著联系。还发现了7q36(经验P=2.32×10-3)与高度近视连锁的证据。结论本研究结果进一步证明控制屈光不正的基因位于3q26、7p15、7p36和22q11上。(投资眼科VS科学。2011年；52：5220-5225)doi：10.1167/iovs.10-7096
PURPOSE. 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.METHODS. 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.RESULTS. Suggestive evidence of linkage was found for hyperopia on chromosome 3, region q26 (empiric P = 5.34 X 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 X 10(-3) and 1.48 X 10(-3), respectively) and to 7p15 of refraction (empiric P = 9.43 X 10(-4)). Evidence was also found of linkage to refraction on 7q36 (empiric P = 2.32 X 10-3), a region previously linked to high myopia.CONCLUSIONS. The findings provide further evidence that genes controlling refractive errors are located on 3q26, 7p15, 7p36, and 22q11. (Invest Ophthalmol Vis Sci. 2011; 52:5220-5225) DOI: 10.1167/iovs.10-7096