Malaysian Research Institute on Ageing, Universiti Putra Malaysia, 43400, Serdang, Selangor DE, Malaysia.
Department of Ophthalmology, Universiti Kebangsaan Malaysia Medical Centre, 56000, Cheras, Kuala Lumpur, Malaysia.
Hum Genomics. 2019 Feb 22;13(1):13. doi: 10.1186/s40246-019-0197-3.
The association of HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms with response to intravitreal ranibizumab therapy among neovascular AMD (nAMD) subjects in Malaysia was determined in this study, followed by the expression of HTRA1 and ARMS2 genes.
Both single nucleotide polymorphisms (SNPs) recorded a significant association between nAMD and controls with HTRA1 rs11200638 at P = 0.018 (OR = 1.52, 95% CI = 1.07-215) and ARMS2 rs10490924 at P < 0.001 (OR = 2.44, 95% CI = 1.75-3.42). An association was also observed in response to ranibizumab for both SNPs in a logistic regression analysis (P < 0.001). The mRNA levels in the HTRA1 variant between responder and non-responder groups were significantly different for the homozygous non-risk GG genotype (P = 0.032).
The HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms are associated with nAMD among Malaysians. Both gene polymorphisms were also correlated with response to intravitreal ranibizumab therapy based on visual and anatomical outcomes especially the HTRA1 rs11200638 variant.
本研究旨在确定马来西亚新生血管性年龄相关性黄斑变性（nAMD）患者玻璃体内雷珠单抗治疗反应与 HTRA1 rs11200638 和 ARMS2 rs10490924 基因多态性的相关性，并检测 HTRA1 和 ARMS2 基因的表达。
两项单核苷酸多态性（SNP）研究均表明，HTRA1 rs11200638 与 nAMD 及对照组之间存在显著相关性（P=0.018，OR=1.52，95%CI=1.07-215），ARMS2 rs10490924 与 nAMD 及对照组之间存在显著相关性（P<0.001，OR=2.44，95%CI=1.75-3.42）。在逻辑回归分析中，这两个 SNP 对玻璃体内雷珠单抗的反应也存在相关性（P<0.001）。在反应者和非反应者两组中，HTRA1 变异体的同源非风险 GG 基因型的 mRNA 水平差异显著（P=0.032）。
HTRA1 rs11200638 和 ARMS2 rs10490924 基因多态性与马来西亚人 nAMD 有关。这两种基因多态性也与玻璃体内雷珠单抗治疗反应相关，尤其是 HTRA1 rs11200638 变异体与视觉和解剖学结局有关。
