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RNU2‑1 gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma

  • Authors:
    • Makiko Ueda
    • Shinya Sato
    • Yohei Miyagi
    • Toshiko Aiso
  • View Affiliations / Copyright

    Affiliations: Department of Medical Technology, Faculty of Health Sciences, Kyorin University, Mitaka, Tokyo 181‑8612, Japan, Molecular Pathology and Genetics Division, Kanagawa Cancer Center Research Institute, Yokohama, Kanagawa 241‑8515, Japan
    Copyright: © Ueda et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 121
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    Published online on: February 27, 2026
       https://doi.org/10.3892/etm.2026.13115
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Abstract

Circulating microRNA (miR)‑1246, a fragment of U2 small nuclear RNA, represents a promising biomarker for certain cancers, including lung adenocarcinoma. The gene that encodes miR‑1246, RNU2‑1, is located on human chromosome 17q21.31 and is organized as a tandem array that exhibits copy number variations (CNVs). The range of copy numbers has been reported to be quite wide, ranging from 5 to 82 per haploid genome. The present study analyzed the correlation between RNU2‑1 copy numbers and serum miR‑1246 levels in healthy controls and patients with stage IV lung adenocarcinoma. Serum miR‑1246 levels were quantified using reverse transcription‑quantitative polymerase chain reaction (PCR), and RNU2‑1 copy numbers per diploid genome were measured via digital PCR using blood‑derived DNA. The median copy numbers were 50 and 49 in the control and lung adenocarcinoma groups, respectively, with no significant difference observed between the groups. In addition, no correlation between RNU2‑1 copy number and serum miR‑1246 level was identified in either group. These results suggest that CNVs of RNU2‑1 do not affect serum levels of the lung adenocarcinoma biomarker miR‑1246.
View Figures

Figure 1

Schematic overview of the
RNU2-1 gene and its products. (A) Arrangement of 6.1 kb
RNU2-1 repeat units and HindⅢ restriction sites in the
T2T-CHM13v2.0 human reference genome. (B) Secondary structure of U2
snRNA adapted from a report by Mazières et al (8), with minor modifications. Magenta,
miR-1246; Blue, pseudouridine; Green, methylation.

Figure 2

Quantification of serum miR-1246
levels and RNU2-1 copy number. (A) Serum miR-1246 levels
quantified by reverse transcription-quantitative polymerase chain
reaction (PCR). The 2-ΔΔCq method was used for relative
quantification. (B) RNU2-1 copy number, measured via digital
PCR, showing copy number per diploid. Statistical significance of
differences between two groups was evaluated using the Mann-Whitney
U test. Horizontal lines represent the median. Lung adeno., lung
adenocarcinoma; HC, healthy controls; miR, microRNA.

Figure 3

Correlation between serum miR-1246
levels and RNU2-1 copy number. The significance of the
correlation was evaluated using Spearman's rank correlation
coefficient test. (A) Correlation in HCs (R=0.1014; P=0.4790). (B)
Correlation in patients with lung adenocarcinoma (R=-0.282;
P=0.0598). Lung adeno., lung adenocarcinoma; HC, healthy controls;
miR, microRNA.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Ueda M, Sato S, Miyagi Y and Aiso T: <em>RNU2‑1</em> gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma. Exp Ther Med 31: 121, 2026.
APA
Ueda, M., Sato, S., Miyagi, Y., & Aiso, T. (2026). <em>RNU2‑1</em> gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma. Experimental and Therapeutic Medicine, 31, 121. https://doi.org/10.3892/etm.2026.13115
MLA
Ueda, M., Sato, S., Miyagi, Y., Aiso, T."<em>RNU2‑1</em> gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma". Experimental and Therapeutic Medicine 31.5 (2026): 121.
Chicago
Ueda, M., Sato, S., Miyagi, Y., Aiso, T."<em>RNU2‑1</em> gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma". Experimental and Therapeutic Medicine 31, no. 5 (2026): 121. https://doi.org/10.3892/etm.2026.13115
Copy and paste a formatted citation
x
Spandidos Publications style
Ueda M, Sato S, Miyagi Y and Aiso T: <em>RNU2‑1</em> gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma. Exp Ther Med 31: 121, 2026.
APA
Ueda, M., Sato, S., Miyagi, Y., & Aiso, T. (2026). <em>RNU2‑1</em> gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma. Experimental and Therapeutic Medicine, 31, 121. https://doi.org/10.3892/etm.2026.13115
MLA
Ueda, M., Sato, S., Miyagi, Y., Aiso, T."<em>RNU2‑1</em> gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma". Experimental and Therapeutic Medicine 31.5 (2026): 121.
Chicago
Ueda, M., Sato, S., Miyagi, Y., Aiso, T."<em>RNU2‑1</em> gene copy number variations do not affect serum levels of miR‑1246 as a biomarker for lung adenocarcinoma". Experimental and Therapeutic Medicine 31, no. 5 (2026): 121. https://doi.org/10.3892/etm.2026.13115
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