Department of Neurosurgery, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, 565-0871, Osaka, Japan.
Department of Neurosurgery, Hanwa Memorial Hospital, Osaka, Osaka, Japan.
J Neurooncol. 2024 Sep;169(2):281-286. doi: 10.1007/s11060-024-04727-x. Epub 2024 Jul 13.
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.
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.
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.
This is the first GWAS of meningiomas in East Asian populations and is expected to contribute to the development of GWAS research for meningiomas.
尽管脑膜瘤是最常见的原发性颅内肿瘤，但它们的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，但仅有两项全基因组关联研究（GWAS）针对欧洲血统人群进行。本研究旨在对日本脑膜瘤患者进行首次全基因组关联研究，以确定与脑膜瘤易感性相关的 SNP。
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机构收治的 401 名脑膜瘤患者，以及日本裔 50876 名对照参与者。
质量控制过程产生了 536319 个变体，在常染色体上进行了 8224735 个变体的导入，在 X 染色体上进行了 224820 个变体的导入。这项 GWAS 最终没有发现具有全基因组意义的遗传变异（P < 5 × 10 ⁻ ⁇ 8 ），并且由于日本人群中次要等位基因频率较低，先前报道的风险变异 rs11012732 和 rs2686876 也没有观察到显著关联。
这是东亚人群中首次对脑膜瘤进行的全基因组关联研究，有望为脑膜瘤的全基因组关联研究的发展做出贡献。
