Brantley Milam A, Fang Amy M, King Jennifer M, Tewari Asheesh, Kymes Steven M, Shiels Alan
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Ophthalmology. 2007 Dec;114(12):2168-73. doi: 10.1016/j.ophtha.2007.09.008.
To investigate whether there is an association between complement factor H (CFH) or LOC387715 genotypes with response to treatment with intravitreal bevacizumab for exudative age-related macular degeneration (AMD).
Retrospective cohort study.
The study cohort consisted of 86 patients being treated for neovascular AMD with bevacizumab alone.
Genotype determination for the CFH Y402H and LOC387715 A69S polymorphisms was performed by allele-specific digestion of polymerase chain reaction products. All patients were treated with 1.25 mg intravitreal bevacizumab at 6-week intervals until choroidal neovascularization was no longer active.
CFH Y402H and LOC387715 A69S polymorphisms. Choroidal neovascular lesion characteristics were ascertained by fluorescein angiography. Snellen visual acuity (VA) was measured before and after treatment.
For the CFH Y402H polymorphism, patients with the CFH TT genotype had the largest choroidal neovascular lesions (P = 0.02). With treatment, VA improved from 20/248 to 20/166 for the CFH TT genotype and from 20/206 to 20/170 for the TC genotype, but fell from 20/206 to 20/341 for the CFH CC genotype (P = 0.016). Only 10.5% of patients with the CFH CC genotype demonstrated improved VA with treatment, compared with 53.7% of CFH TT and TC genotypes (P = 0.004). For the LOC387715 A69S variant, patients with the TT genotype had the largest choroidal neovascular lesions (P = 0.012). There was no significant difference in response to bevacizumab treatment according to LOC387715 genotype.
The AMD-associated CFH Y402H and LOC387715 A69S variants were associated with differences in choroidal neovascular lesion size in this study. Patients with the CFH CC genotype fared significantly worse with intravitreal bevacizumab than did those with the CFH TC and TT genotypes, suggesting a potential pharmacogenetic relationship. Prospective studies to confirm or refute this observation should be considered.
研究补体因子H（CFH）或LOC387715基因多态性与玻璃体内注射贝伐单抗治疗渗出性年龄相关性黄斑变性（AMD）疗效之间是否存在关联。
回顾性队列研究。
研究队列由86例仅接受贝伐单抗治疗新生血管性AMD的患者组成。
通过聚合酶链反应产物的等位基因特异性消化进行CFH Y402H和LOC387715 A69S多态性的基因分型。所有患者每隔6周接受1.25mg玻璃体内贝伐单抗治疗，直至脉络膜新生血管不再活跃。
CFH Y402H和LOC387715 A69S多态性。通过荧光素血管造影确定脉络膜新生血管病变特征。治疗前后测量Snellen视力（VA）。
对于CFH Y402H多态性，CFH TT基因型患者的脉络膜新生血管病变最大（P = 0.02）。治疗后，CFH TT基因型患者的视力从20/248提高到20/166，TC基因型患者从20/206提高到20/170，但CFH CC基因型患者从20/206下降到20/
