Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-03-25 DOI:10.1080/13816810.2024.2330380

Efe Sezgin, Michael F Schneider, Peter W Hunt, Gabriele Beck-Engeser, Gabriele C Ambayac, Douglas A Jabs

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Abstract

Introduction: Patients with the acquired immunodeficiency syndrome (AIDS) have an increased prevalence and incidence of intermediate-stage age-related macular degeneration (AMD). Several elevated plasma inflammatory biomarkers are associated with increased incidence of intermediate-stage AMD in this population. We evaluated the association between AMD risk alleles and plasma inflammatory biomarker levels in persons with AIDS.

Materials and methods: Cryopreserved plasma specimens of 229 non-Hispanic White and 252 non-Hispanic blacks from the Longitudinal Study of the Ocular Complications of AIDS cohort were assayed for plasma levels of soluble tumor necrosis factor receptor (sTNFR) 2, interleukin (IL)-18, C × 3motif chemokine ligand 1 (CX3CL1), C-reactive protein (CRP), and soluble CD14 (sCD14). Genotyping included AMD-associated variants rs10801553 and rs800292 for complement factor H (CFH) rs9332739 and rs547154 for complement factor 2 (C2), rs2230199 for C3, rs2285714 for CFI, and rs3732379 and rs3732378 for C × 3motif chemokine receptor 1 (CX3CR1).

Results: In Whites, AMD low-risk CX3CR1 variants (V249I and T280M) were associated with reduced plasma levels of IL-18. In Blacks, AMD low-risk C3 R102G and low-risk CX3CR1 T280M variants were associated with reduced CRP levels.

Conclusions: Genetic variants in AMD-associated immune genes may influence AMD-associated systemic plasma inflammatory biomarker levels in patients with AIDS.

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与老年性黄斑变性相关的遗传因素调节艾滋病患者的血浆炎症生物标志物水平。

介绍：获得性免疫缺陷综合征（AIDS）患者中期年龄相关性黄斑变性（AMD）的患病率和发病率均有所上升。在这一人群中，几种血浆炎症生物标志物的升高与中期AMD发病率的增加有关。我们评估了艾滋病患者中AMD风险等位基因与血浆炎症生物标志物水平之间的关联：对来自艾滋病眼部并发症纵向研究队列的 229 名非西班牙裔白人和 252 名非西班牙裔黑人的低温保存血浆标本进行了血浆可溶性肿瘤坏死因子受体 (sTNFR) 2、白细胞介素 (IL)-18、C × 3motif 趋化因子配体 1 (CX3CL1)、C 反应蛋白 (CRP) 和可溶性 CD14 (sCD14) 水平的检测。基因分型包括补体因子 H（CFH）的 rs10801553 和 rs800292、补体因子 2（C2）的 rs9332739 和 rs547154、C3 的 rs2230199、CFI 的 rs2285714 以及 C × 3motif 趋化因子受体 1（CX3CR1）的 rs3732379 和 rs3732378：结果：在白人中，AMD 低风险 CX3CR1 变体（V249I 和 T280M）与血浆 IL-18 水平降低有关。在黑人中，AMD低风险C3 R102G和低风险CX3CR1 T280M变异与CRP水平降低有关：AMD相关免疫基因的遗传变异可能会影响艾滋病患者AMD相关的全身血浆炎症生物标志物水平。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.