全基因组关联研究确定了台湾地区脑恶性肿瘤的多个易感基因座。

Genome-Wide Association Study Identifies Multiple Susceptibility Loci for Malignant Neoplasms of the Brain in Taiwan.

作者信息

Lin Jang-Chun, Wu Yi-Chieh, Yang Fu-Chi, Tsai Jo-Ting, Huang David Yc, Liu Wei-Hsiu

机构信息

Department of Radiation Oncology, Shuang Ho Hospital, Taipei Medical University, Taipei 11031, Taiwan.

Department of Radiology, School of Medicine, College of Medicine, Taipei Medical University, Taipei 11031, Taiwan.

出版信息

J Pers Med. 2022 Jul 18;12(7):1161. doi: 10.3390/jpm12071161.

DOI:10.3390/jpm12071161

PMID:35887658

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9323978/

Abstract

Primary brain malignancy is a rare tumor with a global incidence of less than 10 per 100,000 people. Hence, there is limited power for identifying risk loci in individual studies, especially for Han Chinese. We performed a genome-wide association study (GWAS) in Taiwan, including 195 cases and 195 controls. We identified five new genes for malignant neoplasms of the brain: EDARADD (rs645507, 1p31.3, = 7.71 × 10, odds ratio (OR) = 1.893), RBFOX1 (rs8044700, = 2.35 × 10, OR = 2.36), LMF1 (rs3751667, = 7.24 × 10, OR = 2.17), DPP6 (rs67433368, = 8.32 × 10, OR = 3.94), and NDUFB9 (rs7827791, = 9.73 × 10, OR = 4.42). These data support that genetic susceptibility toward GBM or non-GBM tumors is highly distinct, likely reflecting different etiologies. Combined with signaling analysis, we found that RNA modification may be related to major risk factors in primary malignant neoplasms of the brain.

摘要

原发性脑恶性肿瘤是一种罕见肿瘤，全球发病率低于十万分之十。因此，在个体研究中识别风险位点的能力有限，尤其是对于汉族人群。我们在台湾进行了一项全基因组关联研究（GWAS），包括195例病例和195例对照。我们鉴定出五个与脑恶性肿瘤相关的新基因：EDARADD（rs645507，1p31.3，= 7.71 × 10，优势比（OR）= 1.893）、RBFOX1（rs8044700，= 2.35 × 10，OR = 2.36）、LMF1（rs3751667，= 7.24 × 10，OR = 2.17）、DPP6（rs67433368，= 8.32 × 10，OR = 3.94）和NDUFB9（rs7827791，= 9.73 × 10，OR = 4.42）。这些数据支持对胶质母细胞瘤或非胶质母细胞瘤肿瘤的遗传易感性高度不同，可能反映了不同的病因。结合信号分析，我们发现RNA修饰可能与原发性脑恶性肿瘤的主要危险因素有关。