Genome-wide association study on meningioma risk in Japan: a multicenter prospective study.

IF 3.2 2区医学 Q2 CLINICAL NEUROLOGY Journal of Neuro-Oncology Pub Date : 2024-09-01 Epub Date: 2024-07-13 DOI:10.1007/s11060-024-04727-x

Shuhei Yamada, Toru Umehara, Kyuto Sonehara, Noriyuki Kijima, Shuhei Kawabata, Koji Takano, Tomoki Kidani, Ryuichi Hirayama, Hideyuki Arita, Yoshiko Okita, Manabu Kinoshita, Naoki Kagawa, Toshiyuki Fujinaka, Toshiaki Fujita, Akatsuki Wakayama, Koichi Matsuda, Yukinori Okada, Haruhiko Kishima

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Abstract

Purpose: Although meningiomas are the most common primary intracranial tumors, their genetic etiologies have not been fully elucidated. To date, only two genome-wide association studies (GWASs) have focused on European ancestries, despite ethnic differences in the incidence of meningiomas. The aim of this study was to conduct the first GWAS of Japanese patients with meningiomas to identify the SNPs associated with meningioma susceptibility.

Methods: In this multicenter prospective case-control study, we studied 401 Japanese patients with meningioma admitted in five institutions in Japan, and 50,876 control participants of Japanese ancestry enrolled in Biobank Japan.

Results: The quality control process yielded 536,319 variants and imputation resulted in 8,224,735 variants on the autosomes and 224,820 variants on the X chromosomes. This GWAS eventually revealed no genetic variants with genome-wide significance (P < 5 × 10 - 8) and observed no significant association in the previously reported risk variants rs11012732 and rs2686876 due to low minor allele frequency in the Japanese population.

Conclusion: This is the first GWAS of meningiomas in East Asian populations and is expected to contribute to the development of GWAS research for meningiomas.

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日本脑膜瘤风险全基因组关联研究：一项多中心前瞻性研究。

目的：尽管脑膜瘤是最常见的原发性颅内肿瘤，但其遗传病因尚未完全阐明。迄今为止，尽管脑膜瘤的发病率存在种族差异，但只有两项全基因组关联研究（GWAS）侧重于欧洲血统。本研究旨在首次对日本脑膜瘤患者进行全基因组关联研究，以确定与脑膜瘤易感性相关的 SNPs：在这项多中心前瞻性病例对照研究中，我们研究了日本五家医疗机构收治的 401 名日本脑膜瘤患者，以及日本生物库（Biobank Japan）中登记的 50876 名日裔对照参与者：质量控制过程产生了 536,319 个变异，估算结果是常染色体上有 8,224,735 个变异，X 染色体上有 224,820 个变异。这项全球基因组研究最终没有发现具有全基因组意义的基因变异（P 结论）：这是首个针对东亚人群脑膜瘤的 GWAS，有望为脑膜瘤 GWAS 研究的发展做出贡献。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neuro-Oncology 医学-临床神经学

CiteScore

6.60

自引率

7.70%

发文量

277

审稿时长

3.3 months

期刊介绍： The Journal of Neuro-Oncology is a multi-disciplinary journal encompassing basic, applied, and clinical investigations in all research areas as they relate to cancer and the central nervous system. It provides a single forum for communication among neurologists, neurosurgeons, radiotherapists, medical oncologists, neuropathologists, neurodiagnosticians, and laboratory-based oncologists conducting relevant research. The Journal of Neuro-Oncology does not seek to isolate the field, but rather to focus the efforts of many disciplines in one publication through a format which pulls together these diverse interests. More than any other field of oncology, cancer of the central nervous system requires multi-disciplinary approaches. To alleviate having to scan dozens of journals of cell biology, pathology, laboratory and clinical endeavours, JNO is a periodical in which current, high-quality, relevant research in all aspects of neuro-oncology may be found.