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Analysis of LIN28A variants in patients with Parkinson’s disease

Journal of Human Genetics volume 68, pages 329–331 (2023)Cite this article

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Abstract

A heterozygous loss-of-function variant in lin-28 homolog A (LIN28A) was recently reported as a novel pathogenic gene in patients with PD from Korea. Two patients harboring LIN28A variants had early- or middle-aged-onset PD with good responses to levodopa. In the current study, we aimed to identify the prevalence of LIN28A variants among PD patients of Japanese origin. We performed genetic sequencing of 284 patients with early-onset PD. We then estimated the frequency and functional effect of each variant using prediction tools. We identified three different rare variants in LIN28A (rs4623750, c.228 + 49 C > T; rs199541048, c.*7 A > G; and rs4659441, c.*43 C > T). The frequency of each variant in the PD patients did not differ from that of the general population. No variants were identified in the amino acid-coding regions. Our results do not support a strong association of LIN28A with early-onset PD among Japanese patients.

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Acknowledgements

We thank Bronwen Gardner, PhD, from Edanz (https://jp.edanz.com/ac) for editing a draft of this manuscript. This work was supported by JSPS KAKENHI [grant numbers: 21K07283 to LY, 18K07536 to HY, 20K07893 to KN, 19K08003 to MF, and 21H04820 to NH]; High Technology Research Center Grant from the Ministry of Education, Culture, Sports, Science and Technology, Japan; Subsidies for Current Expenditures to Private Institutions of Higher Education from the Promotion and Mutual Aid Corporation for Private Schools of Japan; and GAPFREE from AMED (21ak0101125h0002). This work was performed, in part, at the Intractable Disease Research Center, Juntendo University Graduate School of Medicine.

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Authors and Affiliations

  1. Department of Neurology, Juntendo University School of Medicine, Tokyo, 113-8421, Japan

    Hao Peng, Yuanzhe Li, Mai Shimizu, Kenya Nishioka, Manabu Funayama & Nobutaka Hattori

  2. Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo, 113-8421, Japan

    Hiroyo Yoshino, Manabu Funayama & Nobutaka Hattori

  3. Laboratory of Genomic, Medicine, Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, Tokyo, 113-8421, Japan

    Manabu Funayama & Nobutaka Hattori

  4. Neurodegenerative Disorders Collaborative Laboratory, RIKEN Center for Brain Science, Wako-shi, Saitama, 351-0198, Japan

    Nobutaka Hattori

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  1. Hao Peng
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Correspondence to Nobutaka Hattori.

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Peng, H., Li, Y., Yoshino, H. et al. Analysis of LIN28A variants in patients with Parkinson’s disease. J Hum Genet 68, 329–331 (2023). https://doi.org/10.1038/s10038-022-01109-x

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