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Gab1 基因单核苷酸多态性与中国北方汉族人群脑膜瘤易感性的关联。

Association of Single-Nucleotide Polymorphisms of Gab1 Gene with Susceptibility to Meningioma in a Northern Chinese Han Population.

机构信息

Department of Neurosurgery, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China (mainland).

Department of Neurosurgery, Handan Central Hospital, Handan, Hebei, China (mainland).

出版信息

Med Sci Monit. 2021 Nov 4;27:e933444. doi: 10.12659/MSM.933444.

DOI:10.12659/MSM.933444
PMID:34732686
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8577039/
Abstract

BACKGROUND The Gab1 gene has an important role in cell proliferation in meningioma via various signaling pathways. However, the relationship between polymorphisms of the Gab1 gene and meningioma remains unknown. In this study, we aimed to investigate the plausible association of single-nucleotide polymorphisms (SNPs) of the Gab1 gene and meningioma risk in a northern Chinese Han population. MATERIAL AND METHODS This case-control study included 205 patients with meningioma and 297 healthy controls. Four loci of the Gab1 gene were genotyped using the multiplex snapshot technique. The odds ratio (OR) and 95% confidence interval (CI) were calculated by chi-squared and logistic regression analysis. The distributions of Gab1 SNP genotypes and allele frequencies were compared between patients with meningioma and healthy controls and among patients stratified by clinical phenotypes. RESULTS The allelic frequency distributions of G at rs3805236 and C at rs1397529 were significantly higher in patients with meningioma than in healthy controls. The frequency of the rs3805236-GG and rs1397529-AC genotypes were significantly higher in patients with meningioma than in controls. Furthermore, there was a statistically significant difference between the genotypes of patients versus healthy individuals at rs1397529, according to stratification by dural invasion. The allelic frequency distributions of alleles or genotypes at rs3805246 and rs3828512 were not different in patients with meningioma and healthy controls. CONCLUSIONS The Gab1 gene rs3805236A>G and rs1397529A>C SNPs increased the risk of meningioma in the northern Chinese Han population. Furthermore, rs1397529A>C may be related to enhanced dural invasion in patients with meningioma.

摘要

背景

Gab1 基因通过多种信号通路在脑膜瘤细胞增殖中发挥重要作用。然而,Gab1 基因多态性与脑膜瘤的关系尚不清楚。本研究旨在探讨中国北方汉族人群 Gab1 基因单核苷酸多态性(SNP)与脑膜瘤发病风险的关系。

材料与方法

本病例对照研究纳入了 205 例脑膜瘤患者和 297 例健康对照。采用多重Snapshot 技术对 Gab1 基因的 4 个位点进行基因分型。采用卡方检验和 logistic 回归分析计算比值比(OR)和 95%置信区间(CI)。比较脑膜瘤患者与健康对照组以及根据临床表型分层的患者之间 Gab1 SNP 基因型和等位基因频率的分布。

结果

脑膜瘤患者 Gab1 基因 rs3805236 的 G 等位基因和 rs1397529 的 C 等位基因频率明显高于健康对照组。脑膜瘤患者 rs3805236-GG 和 rs1397529-AC 基因型频率明显高于对照组。此外,根据硬脑膜侵犯情况对患者进行分层后,rs1397529 基因型在患者与健康个体之间存在统计学差异。脑膜瘤患者与健康对照组 rs3805246 和 rs3828512 等位基因或基因型的等位基因频率分布无差异。

结论

Gab1 基因 rs3805236A>G 和 rs1397529A>C SNP 增加了中国北方汉族人群脑膜瘤的发病风险。此外,rs1397529A>C 可能与脑膜瘤患者硬脑膜侵犯增强有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8fe/8577039/cb4973aa7b18/medscimonit-27-e933444-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8fe/8577039/cb4973aa7b18/medscimonit-27-e933444-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8fe/8577039/cb4973aa7b18/medscimonit-27-e933444-g001.jpg

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