Peng Hao, Li Yuanzhe, Yoshino Hiroyo, Shimizu Mai, Nishioka Kenya, Funayama Manabu, Hattori Nobutaka
Department of Neurology, Juntendo University School of Medicine, Tokyo, 113-8421, Japan.
Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo, 113-8421, Japan.
J Hum Genet. 2023 May;68(5):329-331. doi: 10.1038/s10038-022-01109-x. Epub 2023 Jan 19.
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.
最近有报道称，lin-28同源物A（LIN28A）中的杂合功能丧失变异是韩国帕金森病（PD）患者的一种新型致病基因。两名携带LIN28A变异的患者患有早发型或中年发病型PD，对左旋多巴反应良好。在本研究中，我们旨在确定日本裔PD患者中LIN28A变异的患病率。我们对284例早发型PD患者进行了基因测序。然后，我们使用预测工具估计每个变异的频率和功能效应。我们在LIN28A中鉴定出三种不同的罕见变异（rs4623750，c.228+49 C>T；rs199541048，c.*7 A>G；以及rs4659441，c.*43 C>T）。PD患者中每个变异的频率与一般人群的频率没有差异。在氨基酸编码区域未发现变异。我们的结果不支持LIN28A与日本患者早发型PD之间存在强关联。
