Yoneyama Seigo, Sakurada Yoichi, Mabuchi Fumihiko, Sugiyama Atsushi, Kubota Takeo, Iijima Hiroyuki
Departments of Ophthalmology and.
Ophthalmic Genet. 2014 Sep;35(3):151-5. doi: 10.3109/13816810.2014.921313. Epub 2014 May 27.
To investigate whether genetic variant in superkiller viralicidic activity 2-like (SKIV2L) gene is associated with exudative age-related macular degeneration (AMD) including neovascular AMD, polypoidal choroidal vasculopathy (PCV), and retinal angiomatous proliferation (RAP).
A total of 517 patients with exudative AMD comprised of 157patients with neovascular AMD, 333 patients with PCV, and 27patients with RAP, and 205 controls were enrolled in this study. Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-related maculopathy susceptibility2 (ARMS2) gene was genotyped using TaqMan technology. Logistic regression analysis was performed to correlate the risk for exudative AMD with demographic and genetic factors.
The A allele frequency of rs429608 in the SKIV2L gene was significantly higher in controls (13.9%) than in those with neovascular AMD (5.7%, p = 0.002), PCV (7.2%, p = 0.003) and RAP (3.7%, p = 0.0345). After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly protective against neovascular AMD (odds ratio [OR] 0.24, 95% confidence interval [CI] 0.122-0.484, p < 0.001), PCV (OR 0.43, 95% CI 0.262-0.704, p = 0.001), RAP (OR 0.09, 95% CI 0.014-0.581, p = 0.011).
A SKIV2L variant was associated with protection against exudative AMD regardless of subtypes in the Japanese population.
研究超杀伤病毒杀灭活性2样（SKIV2L）基因中的遗传变异是否与渗出性年龄相关性黄斑变性（AMD）相关，包括新生血管性AMD、息肉状脉络膜血管病变（PCV）和视网膜血管瘤样增生（RAP）。
本研究共纳入517例渗出性AMD患者，其中包括157例新生血管性AMD患者、333例PCV患者和27例RAP患者，以及205例对照。使用TaqMan技术对SKIV2L基因中的rs429608、补体因子H（CFH）基因中的rs800292、年龄相关性黄斑病变易感基因2（ARMS2）中的rs10490924进行基因分型。进行逻辑回归分析，以确定渗出性AMD的风险与人口统计学和遗传因素之间的相关性。
SKIV2L基因中rs429608的A等位基因频率在对照组（13.9%）中显著高于新生血管性AMD患者（5.7%，p = 0.002）、PCV患者（7.2%，p = 0.003）和RAP患者（3.7%，p = 0.0345）。在调整年龄、性别、ARMS2 A69S和CFH I62V后，rs429608的A等位基因对新生血管性AMD具有显著的保护作用（优势比[OR] 0.24，95%置信区间[CI] 0.122 - 0.484，p < 0.001）、PCV（OR 0.43，95% CI 0.262 - 0.704，p = 0.001）、RAP（OR 0.09，95% CI 0.014 - 0.581，p = 0.011）。
在日本人群中，SKIV2L基因变异与预防渗出性AMD相关，无论其亚型如何。
