Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Department of Pathology, Sun Yat-sen University Cancer Center, Guangzhou, China.
Br J Biomed Sci. 2021 Jul;78(3):135-140. doi: 10.1080/09674845.2020.1870308. Epub 2021 Feb 5.
: Glioma, the most common tumour in children next to leukaemia, is difficult to treat, with a poor prognosis and high recurrence rate. Xeroderma pigmentosum group G (XPG) plays a key role in the nucleotide excision repair pathway, which may modulate individual susceptibility to developing cancer. We hypothesized links between variants and glioma in children.: We tested our hypothesis in a study comparing 171 glioma cases with 228 age and sex matched controls, determining polymorphisms rs2094258 C > T, rs751402 C > T, rs2296147 T > C, rs1047768 T > C, rs873601 G > A by standard molecular genetic methods.: rs2094258 C > T was associated with a decreased glioma risk, but carrying the rs1047768 C or rs873601 A allele brought an increased risk. Subjects carrying 5 risk genotypes had a significantly increased glioma risk at an adjusted odds ratio of 1.97 (95% confidence Interval 1.26-3.08)(p = 0.003) when compared with those carrying 0-4 risk genotypes. Furthermore, children with 5 risk genotypes had a higher glioma risk when aged >60 months, were more likely to be male, and with subtypes of astrocytic tumours, and low-grade clinical stage, when compared to those with 0-4 risk genotypes. Preliminary functional exploration suggested that rs2094258 is linked with the expression of its surrounding genes in the expression quantitative trait locus analysis.: Certain variants of are risk factors for paediatric glioma, and so may be useful in early diagnosis.
神经胶质瘤是仅次于白血病的儿童最常见肿瘤,其治疗困难,预后差,复发率高。 Xeroderma pigmentosum group G (XPG) 在核苷酸切除修复途径中起关键作用,该途径可能调节个体患癌症的易感性。我们假设 XPG 中的变异与儿童的神经胶质瘤之间存在关联。我们在一项比较 171 例神经胶质瘤病例和 228 例年龄和性别匹配对照的研究中检验了我们的假设,通过标准分子遗传方法确定了 rs2094258 C > T、rs751402 C > T、rs2296147 T > C、rs1047768 T > C、rs873601 G > A 多态性。rs2094258 C > T 与降低神经胶质瘤风险相关,但携带 rs1047768 C 或 rs873601 A 等位基因则会增加风险。与携带 0-4 种风险基因型的受试者相比,携带 5 种风险基因型的受试者的神经胶质瘤风险显著增加,调整后的优势比为 1.97(95%置信区间 1.26-3.08)(p=0.003)。此外,与携带 0-4 种风险基因型的受试者相比,携带 5 种风险基因型的患儿年龄>60 个月、男性、星形细胞瘤亚型、低级别临床分期的神经胶质瘤风险更高。初步功能探索表明,rs2094258 与周围基因的表达在表达数量性状基因座分析中相关。某些 XPG 变体是儿童神经胶质瘤的危险因素,因此可能有助于早期诊断。