Abstract
Previous studies have identified multiple loci for inherited susceptibility to glioma development, including the regulator of telomere elongation helicase 1 (RTEL1). However, the association between RTEL1 variants and risk of glioma has not been well understood. Therefore, we sought to comprehensively examine the genetic interaction between RTEL1 variants and risk of glioma with respect to defined histological and molecular subtypes. We employed a case-control study involving 250 adult glioma patients with previous molecular alterations and 375 population–based controls within Korean populations. Statistical analyses on the association between RTEL1 single nucleotide polymorphisms (SNPs) and glioma risk were conducted using unconditional logistic regression. Additional conditional and stepwise analyses were performed on significant RTEL1 SNPs. We detected significant associations (Bonferroni P < .05) between six SNPs (rs6089953, rs3848669, rs6010620, rs3787089, rs6062302, and rs115303435) and risk of glioma in the Korean subjects. The two coding variants, rs6062302 (D664D) and rs115303435 (A1059T), were plausibly causal variants and were independent among the significantly associated RTEL1 variants. The glioma subgroup analyses showed that the causal variants (rs6062302 and rs115303435) may be associated with increased risk of glioma regardless of histological grades and molecular alterations. This study provides a deeper understanding of relationships between RTEL1 variants and risk of glioma. Further studies are required to ascertain the impact of those variants on glioma susceptibility.
Highlights
Glioma is a common tumor which develops within the central nervous system (CNS) [1, 2]
The case group consisted of patients with 250 unrelated adult gliomas and the control group consisted of 375 individuals over 40 years old
This study demonstrates that previously identified loci in regulator of telomere elongation helicase 1 (RTEL1) are confirmed to have an association with increased risk of adult gliomas
Summary
Glioma is a common tumor which develops within the central nervous system (CNS) [1, 2]. With the implementation of 2016 World Health Organization Classification of Tumors of the CNS (2016 CNS WHO), the gliomas of the brain are required to be diagnosed with the isocitrate dehydrogenase (IDH) and the chromosome abnormalities of 1p and 19q status [3]. These genetic alterations have been accepted by worldwide neuro-oncology groups, and most of the glioma patients are being classified into the category of diffuse astrocytoma, anaplastic astrocytoma, oligodendroglioma, anaplastic oligodendroglioma, or glioblastoma (GBM) with the molecular signatures [3,4,5]. We examined the possible interactions between susceptibility alleles and glioma subgroups such as grades, histologic features, and molecular information
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