土耳其人群中 ARMS2 rs10490924 风险基因型与伴有或不伴有网状假性黄斑变性的干性年龄相关性黄斑变性患者之间的关系:一家三级诊所的研究结果。

IF 2.4 3区 医学 Q2 OPHTHALMOLOGY
Onur Furundaoturan, Cumali Degirmenci, Filiz Afrashi, Tahir Atik, Cezmi Akkin, Jale Mentes, Serhad Nalcaci
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引用次数: 0

摘要

目的:通过多模态成像评估干性AMD患者网状假皱纹(RPD)的存在与ARMS2 rs10490924变异的风险等位基因之间的关系。同时,根据风险等位基因的分布情况,比较有和没有 RPD 的患者与健康志愿者:在这项横断面研究中,招募了患有(A 组,n = 50)和不患有(B 组,n = 50)RPD 的干眼症患者以及健康志愿者(C 组,n = 50)。在进行详细的眼科检查后,使用共焦扫描激光眼底镜(德国海德堡)获取 RPD 的近红外(NIR)成像,并通过光谱域-光学相干断层扫描(德国海德堡)确诊。在怀疑有无声脉络膜新生血管的情况下,进行光学相干断层血管造影(Optovue,加利福尼亚州弗里蒙特市),并排除这些血管。为进行基因评估,进行了外周血采样。利用新一代测序技术(NGS)对 ARMS2 rs10490924 单核苷酸多态性进行了研究。根据风险等位基因的分布情况对各组进行比较:结果:共纳入 150 名参与者的 150 只眼睛。在 A 组中,42%(21 人)的患者为 T 风险等位基因杂合子,30%(15 人)为同源杂合子,28%(14 人)的患者未检测到风险等位基因。在 B 组中,44%(22 人)的患者为杂合型,17%(8 人)为同型,39%(20 人)的患者未检测到风险等位基因。在 C 组中,30%(15 人)为杂合子,4%(2 人)为同源杂合子,64%(32 人)未观察到变异。A 组中的同型参与者明显高于其他两组(A-B 组:OR = 2.67,95% CI:0.895,8.020;A-C 组:OR = 17.14,95% CI:0.895,8.020):OR=17.14,95% CI:3.449,85.208),而在 B 组中,同源个体高于 C 组(P 值分别为 0.0039、0.0002、0.013)。T风险等位基因频率在A组、B组和C组分别为51%、38%和20%,其中A组明显更高(P = 0.02):结论:AMD 的遗传影响是不可避免的,但不同种族之间可能存在某些差异。不同人群的遗传变异与成像结果(如 RPD)之间的关系尚缺乏文献报道。本研究首次利用多模态成像技术,在土耳其人群中强调了RPD与干性AMD患者ARMS2 rs10490924多态性之间的关系:已知信息年龄相关性黄斑变性的病理生理学受到包括单核苷酸多态性在内的多种因素的影响。目前的文献对 ARMS2 的变异有充分的怀疑。网状假性黄斑变性与老年性黄斑变性疾病的晚期有关。有什么新发现?ARMS2 rs10490924风险基因型与干性年龄相关性黄斑变性患者出现网状假性变性有关。在干性年龄相关性黄斑变性患者中,T风险等位基因的高通量基因型明显高于网状假性黄斑变性患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Association between the ARMS2 rs10490924 risk genotype and dry-age related macular degeneration patients with and without reticular pseudodrusen in a Turkish population: findings from a study conducted at a tertiary clinic.

Purpose: To evaluate the relationship between the presence of reticular pseudodrusen (RPD) and the risk allele of ARMS2 rs10490924 variation in dry-AMD patients by using multimodal imaging. Also, to compare patients with and without RPD and healthy volunteers according to the distribution of the risk allele.

Methods: In this cross-sectional study, dry-AMD patients with (Group A, n = 50) and without (Group B, n = 50) RPD and healthy volunteers (Group C, n = 50) were enrolled. After detailed ophthalmologic examination, confocal scanning laser ophthalmoscope (Heidelberg, Germany) was used to acquire near infra-red (NIR) imaging for RPD and the diagnosis was confirmed by Spectral Domain-Optical coherence tomography (Heidelberg, Germany). In silent choroidal neovascularization suspicion, optical coherence tomography angiography (Optovue, Fremont, CA) was performed and those were excluded. For genetic assessment, peripheric blood sampling was performed. Using next-generation sequencing technique (NGS), ARMS2 rs10490924 single nucleotide polymorphism was investigated. Groups were compared according to the distribution of the risky allele.

Results: 150 eyes of 150 participants were included. In Group A, 42% (21) of patients were heterozygous for the T risk allele, 30% (15) were homozygous, and the risk allele was not detected in 28% (14). In Group B, 44% (22) of patients were heterozygous, 17% (8) were homozygous, and the risk allele was not detected in 39% (20). In Group C, 30% (15) of participants were heterozygous, 4% (2) were homozygous, and variation was not observed in 64% (32). Homozygous participants in Group A were significantly higher than other two groups (Group A-B: OR = 2.67, 95% CI: 0.895, 8.020; Group A-C: OR = 17.14, 95% CI: 3.449, 85.208) while in Group B, homozygous individuals were higher than Group C (respectively, p values 0.0039, 0.0002, 0.013). T risky allele frequencies were 51%, 38%, and 20% in Groups A, B, and C, respectively, which was significantly higher in Group A (p = 0.02).

Conclusion: Genetic influence in AMD is inevitable while certain differences according to different ethnicities may apply. Association of genetic variations and imaging findings like RPD is lacking among literature for different populations. By the aspect of this study, the relationship between RPD and ARMS2 rs10490924 polymorphism in dry-AMD patients were highlighted among Turkish population by using multimodal imaging for the first time.

Key messages: What is Known? Pathophysiology of age-related macular degeneration is influenced from multiple factors including single nucleotide polymorphisms. The variations of ARMS2 are suspected well in the current literature. Reticular pseudodrusen is related to advanced stages of age related macular degeneration disease. What is New? The ARMS2 rs10490924 risk genotype is associated with the presence of reticular pseudodrusen in dry age related macular degeneration patients. Homozygous genotype of T risk allele is evaluated significantly higher in dry age related macular degeneration patients with reticular pseudodrusen.

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来源期刊
CiteScore
5.40
自引率
7.40%
发文量
398
审稿时长
3 months
期刊介绍: Graefe''s Archive for Clinical and Experimental Ophthalmology is a distinguished international journal that presents original clinical reports and clini-cally relevant experimental studies. Founded in 1854 by Albrecht von Graefe to serve as a source of useful clinical information and a stimulus for discussion, the journal has published articles by leading ophthalmologists and vision research scientists for more than a century. With peer review by an international Editorial Board and prompt English-language publication, Graefe''s Archive provides rapid dissemination of clinical and clinically related experimental information.
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