Low frequency of MLLT10 risk SNPs in Korean meningiomas: an exploratory analysis highlighting population-specific differences.

Introduction: Several MLLT10-associated single-nucleotide polymorphisms (SNPs) have been identified by genome-wide association studies (GWASs) as germline risk variants for meningioma in predominantly European cohorts, but their relevance in Koreans remains uncertain. We investigated these MLLT10 risk SNPs in Korean meningiomas, assessing differences across two time cohorts and comparing allele frequencies with those observed in other populations.

Materials and methods: Three MLLT10 SNPs (rs12770228, rs11012732, and rs1243180) were examined in 143 meningiomas from patients aged ≤50 years, comprising 62 fresh-frozen tissues collected during 1999-2003 (Period 1) and 81 formalin-fixed paraffin-embedded tissues from 2006-2023 (Period 2).

Results: Three SNPs were detected in 9 of 143 meningiomas (6.3%). While the differences did not reach statistical significance (p > 0.05), minor allele frequencies of all three SNPs were reduced two- to four-fold in Period 2 compared with Period 1. The observed frequencies were similar to those reported in Japanese cohorts but substantially lower than the ≥30% reported in European populations.

Conclusion: Despite the limitation of using tumour-derived DNA to assess germline variants, our findings consistently showed that MLLT10 risk SNPs occur at very low frequencies in Koreans, similar to Japanese data and in contrast to Europeans. These results highlight the population-specific nature of MLLT10 variants and underscore the need for large-scale Asian studies for risk SNP analysis in meningiomas.