核糖核酸测序分析鉴定用于诊断肌肉萎缩症的潜在生物标志物。

IF 4.3 2区 医学 Q1 GERIATRICS & GERONTOLOGY
Motoki Furutani, Mutsumi Suganuma, Shintaro Akiyama, Risa Mitsumori, Marie Takemura, Yasumoto Matsui, Shosuke Satake, Yukiko Nakano, Shumpei Niida, Kouichi Ozaki, Tohru Hosoyama, Daichi Shigemizu
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引用次数: 2

摘要

Sarcopenia是一种与死亡率和残疾增加相关的老年疾病。需要早期诊断和干预来预防。本研究结合综合临床数据和从外周血单核细胞中获得的信使核糖核酸测序(RNA-seq)分析,研究了少肌症的生物标志物。我们共招募了114名年龄在66-94岁的老年人(根据2019年亚洲肌肉减少症工作组共识诊断为52名肌肉减少症患者和62名正常老年人)。我们使用了不包括少肌症诊断标准的临床数据,通过逻辑回归分析,步长显示出显著性(Bonferroni校正p=.012,比值比=0.14,95%置信区间[CI]:0.05-0.40)。RNA-seq分析检测到6个差异表达基因(FAR1、GNL2、HERC5、MRPL47、NUBP2和S100A11)。我们还进行了基因集富集分析,并检测到2个功能模块(即中枢基因、MYH9和FLNA)。通过使用9个候选者和基本信息(年龄和性别)的任意组合,构建了风险预测模型。通过使用步长、HERC5、S100A11和FLNA的组合,最佳模型在验证队列中获得了0.91的高曲线下面积(AUC)(95%置信区间:0.78-0.95)。3个基因的定量PCR结果与RNA-seq结果中观察到的趋势一致。当加入BMI时,该模型的AUC高达0.95(95%置信区间:0.84-0.99)。我们已经发现了诊断少肌症的潜在生物标志物。进一步的改进可能会使它们在未来的临床应用中得到实际应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
RNA-Sequencing Analysis Identification of Potential Biomarkers for Diagnosis of Sarcopenia.

Sarcopenia is a geriatric disease associated with increased mortality and disability. Early diagnosis and intervention are required to prevent it. This study investigated biomarkers for sarcopenia by using a combination of comprehensive clinical data and messenger RNA-sequencing (RNA-seq) analysis obtained from peripheral blood mononuclear cells. We enrolled a total of 114 older adults aged 66-94 years (52 sarcopenia diagnosed according to the Asian Working Group for Sarcopenia 2019 consensus and 62 normal older people). We used clinical data which were not included diagnosis criteria of sarcopenia, and stride length showed significance by logistic regression analysis (Bonferroni corrected p = .012, odds ratio = 0.14, 95% confidence interval [CI]: 0.05-0.40). RNA-seq analysis detected 6 differential expressed genes (FAR1, GNL2, HERC5, MRPL47, NUBP2, and S100A11). We also performed gene-set enrichment analysis and detected 2 functional modules (ie, hub genes, MYH9, and FLNA). By using any combination of the 9 candidates and basic information (age and sex), risk-prediction models were constructed. The best model by using a combination of stride length, HERC5, S100A11, and FLNA, achieved a high area under the curve (AUC) of 0.91 in a validation cohort (95% CI: 0.78-0.95). The quantitative PCR results of the 3 genes were consistent with the trend observed in the RNA-seq results. When BMI was added, the model achieved a high AUC of 0.95 (95% CI: 0.84-0.99). We have discovered potential biomarkers for the diagnosis of sarcopenia. Further refinement may lead to their future practical use in clinical use.

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来源期刊
CiteScore
10.00
自引率
5.90%
发文量
233
审稿时长
3-8 weeks
期刊介绍: Publishes articles representing the full range of medical sciences pertaining to aging. Appropriate areas include, but are not limited to, basic medical science, clinical epidemiology, clinical research, and health services research for professions such as medicine, dentistry, allied health sciences, and nursing. It publishes articles on research pertinent to human biology and disease.
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