Heritability of tear fluid cytokines in healthy twins

IF 5.9 1区 医学 Q1 OPHTHALMOLOGY Ocular Surface Pub Date : 2024-02-20 DOI:10.1016/j.jtos.2024.02.005
Jakob Bjerager , Morten Magnø , Xiangjun Chen , Mohamed Belmouhand , Hans Christian D. Aass , Sjur Reppe , Steffen Heegaard , Michael Larsen , Tor P. Utheim
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Abstract

Purpose

Ocular surface disease is common and it is associated with elevated concentration levels of cytokines in tear fluid. Studies of the normal variation in tear fluid inflammatory markers are lacking. New knowledge may help guide research into ocular surface disease biomarkers and therapeutics.

Methods

In this prospective twin cohort study, healthy individuals were recruited from a population-based registry. Tear fluid was collected with the Schirmer test strips was submerged in phosphate buffered saline and stored at −80° before undergoing 27-cytokine multiplex immunoassay analysis. Broad-sense heritability (h2) of cytokine concentrations was analyzed.

Results

90 participants (23 monozygotic and 22 dizygotic twin pairs) were included. Data availability allowed for heritability analysis of 15 cytokines, and a h2 >50% was seen for 10 cytokines. A statistical power of >80% was achieved for heritability analyses of the cytokines interferon gamma induced protein 10 (h2 = 94.8%), eotaxin (89.8%), interleukin 7 (86.6%), interleukin 1β (82.2%) and monocyte chemoattractant protein 1 (68.2%).

Conclusions

The tear fluid concentration of several analyzed cytokines was found to be highly heritable. A considerable amount of the inter-individual variation observed for the concentration of certain tear fluid cytokines can be linked to hereditary factors that cannot easily be modified by changing factors in the environment of patients. This suggests that a higher success in ocular surface disease drug discovery may be anticipated for drugs that have targets in specific populations, and points to the importance of emphasizing known preventive measures of ocular surface disease and examinations of close relatives of patients with ocular surface disease, such as dry eye disease.

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健康双胞胎泪液细胞因子的遗传性
目的 眼表疾病很常见,与泪液中细胞因子浓度水平升高有关。目前还缺乏对泪液炎症标志物正常变化的研究。在这项前瞻性双胞胎队列研究中,我们从一个基于人口的登记处招募了健康人。使用施尔默试纸收集泪液,浸没在磷酸盐缓冲盐水中,并在-80°下保存,然后进行27种细胞因子的多重免疫测定分析。对细胞因子浓度的广义遗传率(h2)进行了分析。数据可用性允许对 15 种细胞因子进行遗传性分析,其中 10 种细胞因子的 h2 为 50%。对干扰素γ诱导蛋白10(h2 = 94.8%)、依他霉素(89.8%)、白细胞介素7(86.6%)、白细胞介素1β(82.2%)和单核细胞趋化蛋白1(68.2%)等细胞因子的遗传力分析达到了80%。在某些泪液细胞因子的浓度方面观察到的个体间差异很大程度上与遗传因素有关,而这些因素不容易通过改变患者的环境因素来改变。这表明,针对特定人群的药物可能会在眼表疾病药物发现方面取得更大的成功,并指出了强调已知的眼表疾病预防措施和对眼表疾病(如干眼症)患者近亲进行检查的重要性。
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来源期刊
Ocular Surface
Ocular Surface 医学-眼科学
CiteScore
11.60
自引率
14.10%
发文量
97
审稿时长
39 days
期刊介绍: The Ocular Surface, a quarterly, a peer-reviewed journal, is an authoritative resource that integrates and interprets major findings in diverse fields related to the ocular surface, including ophthalmology, optometry, genetics, molecular biology, pharmacology, immunology, infectious disease, and epidemiology. Its critical review articles cover the most current knowledge on medical and surgical management of ocular surface pathology, new understandings of ocular surface physiology, the meaning of recent discoveries on how the ocular surface responds to injury and disease, and updates on drug and device development. The journal also publishes select original research reports and articles describing cutting-edge techniques and technology in the field. Benefits to authors We also provide many author benefits, such as free PDFs, a liberal copyright policy, special discounts on Elsevier publications and much more. Please click here for more information on our author services. Please see our Guide for Authors for information on article submission. If you require any further information or help, please visit our Support Center
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