Sigalingging Talenta, Perdamaian Ayudha Bahana Ilham, Romdhoniyyah Dewi Fathin, Prayogo Muhammad Eko, Wardhana Firman Setya, Widayanti Tri Wahyu, Sasongko Muhammad Bayu, Agni Angela Nurini, Oka Chio, Supanji Supanji
Department of Ophthalmology, Faculty of Medicine Public Health and Nursing, Universitas Gadjah Mada-Dr. Sardjito General Hospital, Yogyakarta, Indonesia.
Ophthalmology Clinic, Dr. YAP Eye Hospital, Yogyakarta, Indonesia.
Med Hypothesis Discov Innov Ophthalmol. 2022 Sep 23;11(2):71-76. doi: 10.51329/mehdiophthal1448. eCollection 2022 Summer.
Neovascular age-related macular degeneration (nAMD) is one of the main causes of blindness in developed countries. is one of the genes involved in the pathogenesis of nAMD. This study investigated the rs10737680 polymorphism in and its conferred susceptibility to nAMD in Yogyakarta, Indonesia.
This case-control hospital-based study recruited participants consisting of 96 patients with nAMD and 101 controls without nAMD from the Eye Polyclinic of Sardjito Hospital, YAP Eye Hospital, and Hardjolukito Hospital Yogyakarta. nAMD was diagnosed when fundus examination, fundus photographs, and optical coherence tomography revealed hard or soft drusen in the macular area measuring > 63 µm that appeared below the retinal pigment epithelium, with or without macular hypo- or hyperpigmentation, and was accompanied by choroidal neovascularization. Genomic DNA was extracted using a commercial DNA isolation kit. The restriction fragment length polymorphism technique was used to identify the rs10737680 polymorphism in .
The mean (standard deviation [SD]) age of the nAMD group was not homogeneous with that of the control group ( < 0.05); 65.41 (9.74) years versus 68.24 (7.82) years. The number of patients with hypertension in the nAMD group was significantly higher than in the control group ( < 0.05). In the nAMD group, the genotype distribution indicated homozygous risk allele in 34.38%, heterozygous risk allele in 57.29%, and homozygous non-risk allele in 8.33%. In the control group, the genotype distribution indicated homozygous risk allele in 21.78%, heterozygous risk allele in 36.63%, and homozygous non-risk allele in 41.58%. Statistical analysis between the two study groups according to homozygous risk allele genotype (odds ratio [OR], 7.87; 95% confidence interval [CI], 2.88-22.79) and heterozygous genotype (OR, 7.80; 95% CI, 3.11-21.19) showed a significant difference (both < 0.01).
Homozygous risk allele was less frequent than heterogeneous risk allele in patients with nAMD; however, both increased the risk for nAMD. Although the homozygous or heterozygous risk-alleles were detected in most patients, yet other important genetic or environmental factors could be involved in the pathogenesis of nAMD. Overall, we found a significant association between rs10737680 polymorphism in and the susceptibility to nAMD in Yogyakarta, Indonesia; however, future studies are needed to fully delineate the mechanism.
新生血管性年龄相关性黄斑变性（nAMD）是发达国家失明的主要原因之一。 是参与nAMD发病机制的基因之一。本研究调查了印度尼西亚日惹地区 基因中的rs10737680多态性及其与nAMD易感性的关系。
本病例对照医院研究招募了来自日惹萨迪托医院眼科门诊、YAP眼科医院和哈乔鲁基托医院的96例nAMD患者和101例非nAMD对照者。当眼底检查、眼底照片和光学相干断层扫描显示黄斑区有硬或软玻璃膜疣，直径>63μm，出现在视网膜色素上皮下方，伴有或不伴有黄斑色素减退或色素沉着，并伴有脉络膜新生血管时，诊断为nAMD。使用商业DNA分离试剂盒提取基因组DNA。采用限制性片段长度多态性技术鉴定 基因中的rs10737680多态性。
nAMD组的平均（标准差[SD]）年龄与对照组不一致（<0.05）；分别为65.41（9.74）岁和68.24（7.82）岁。nAMD组高血压患者数量显著高于对照组（<0.05）。在nAMD组中，基因型分布显示纯合风险等位基因占34.38%，杂合风险等位基因占57.29%，纯合非风险等位基因占8.33%。在对照组中，基因型分布显示纯合风险等位基因占21.78%，杂合风险等位基因占36.63%，纯合非风险等位基因占41.58%。根据纯合风险等位基因基因型（优势比[OR]，7.87；95%置信区间[CI]，2.88 - 22.79）和杂合基因型（OR，7.80；95%CI，3.11 - 21.19）对两个研究组进行的统计分析显示存在显著差异（均<0.01）。
nAMD患者中纯合风险等位基因的频率低于杂合风险等位基因；然而，两者均增加了患nAMD的风险。尽管大多数患者检测到纯合或杂合风险等位基因，但nAMD的发病机制可能还涉及其他重要的遗传或环境因素。总体而言，我们发现印度尼西亚日惹地区 基因中的rs10737680多态性与nAMD易感性之间存在显著关联；然而，需要进一步研究以全面阐明其机制。
