Battu Priya, Sharma Kaushal, Thangavel Rajarathna, Singh Ramandeep, Sharma Suresh, Srivastava Vinod, Anand Akshay
Neuroscience Research Lab, Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Department of Ophthalmology, Vasan Eye Care, Chennai, India.
Clin Ophthalmol. 2022 Feb 25;16:517-529. doi: 10.2147/OPTH.S318098. eCollection 2022.
Optical coherence tomography (OCT) parameters like subretinal fluid (SRF), intra retinal fluid (IRF) and retinal detachment (RPED) etc are routinely accessed by ophthalmologists in patients with retinal complaints. Correlation of OCT findings with genotype and phenotype of AMD patients is relatively unexplored. Here, we have investigated the association of OCT parameters' with genetic variants along with protein expressions and examined their clinical relevance with AREDS (Age-Related Eye Disease Study) criteria in AMD patients.
For this study, samples were recruited from Advanced Eye Centre, PGIMER, Chandigarh, India. Case-only analysis of anonymous imaging data (OCT/Fundus) acquired during the routine clinical evaluation of patients was done to examine the OCT findings in the AMD patients. TaqMan genotyping assays were used to analyze the single nucleotide polymorphisms in these patients. ELISA (enzyme linked immunosorbent assay) was used to estimate the protein levels of these genes in serum. Information pertaining to lifestyle/habits was also collected by administering a standard questionnaire at the time of recruitment of the patients.
Intra-retinal fluid (IRF) was associated significantly with the LIPC genotype (p=0.04). Similarly, smoking status and early AMD were also associated with the APOE genotype (p=0.03). Additionally, variants of IER-3 and SLC16A8 were also found to be associated with co-morbidities (p=0.02) and males (p=0.02), respectively. RPED has shown a significant association with AREDS criteria, which demonstrated an area under AUROC around 72%.
Results of genotype-phenotype association can give a precise impression of AMD severity and can be beneficial for the early diagnosis of AMD cases.
眼科医生在诊治视网膜疾病患者时，通常会借助光学相干断层扫描（OCT）参数，如视网膜下液（SRF）、视网膜内液（IRF）和视网膜脱离（RPED）等。OCT检查结果与年龄相关性黄斑变性（AMD）患者的基因型和表型之间的相关性研究相对较少。在此，我们研究了OCT参数与基因变异以及蛋白表达之间的关联，并根据年龄相关性眼病研究（AREDS）标准，检验了它们在AMD患者中的临床相关性。
本研究的样本取自印度昌迪加尔市PGIMER高级眼科中心。对患者常规临床评估期间获取的匿名影像数据（OCT/眼底）进行病例对照分析，以检查AMD患者的OCT检查结果。采用TaqMan基因分型检测法分析这些患者的单核苷酸多态性。采用酶联免疫吸附测定（ELISA）法评估血清中这些基因的蛋白水平。在招募患者时，通过发放标准问卷收集其生活方式/习惯等信息。
视网膜内液（IRF）与LIPC基因型显著相关（p = 0.04）。同样，吸烟状况和早期AMD也与APOE基因型相关（p = 0.03）。此外，还发现IER-3和SLC16A8的变异分别与合并症（p = 0.02）和男性（p = 0.02）相关。RPED与AREDS标准显示出显著相关性，其曲线下面积（AUROC）约为72%。
基因型-表型关联结果能够准确反映AMD的严重程度，有助于AMD病例的早期诊断。
