A genome-wide association study on medulloblastoma
Abstract
Introduction Medulloblastoma is a malignant embryonal tumor of the cerebellum that occurs predominantly in children. To find germline genetic variants associated with medulloblastoma risk, we conducted a genome-wide association study (GWAS) including 244 medulloblastoma cases and 247 control subjects from Sweden and Denmark. Methods Genotyping was performed using Illumina BeadChips, and untyped variants were imputed using IMPUTE2. Results Fifty-nine variants in 11 loci were associated with increased medulloblastoma risk (p < 1 × 10–5), but none were statistically significant after adjusting for multiple testing (p < 5 × 10–8). Thirteen of these variants were genotyped, whereas 46 were imputed. Genotyped variants were further investigated in a validation study comprising 249 medulloblastoma cases and 629 control subjects. In the validation study, rs78021424 (18p11.23, PTPRM) was associated with medulloblastoma risk with OR in the same direction as in the discovery cohort (ORT = 1.59, pvalidation = 0.02). We also selected seven medulloblastoma predisposition genes for investigation using a candidate gene approach: APC, BRCA2, PALB2, PTCH1, SUFU, TP53, and GPR161. The strongest evidence for association was found for rs201458864 (PALB2, ORT = 3.76, p = 3.2 × 10–4) and rs79036813 (PTCH1, ORA = 0.42, p = 2.6 × 10–3). Conclusion The results of this study, including a novel potential medulloblastoma risk loci at 18p11.23, are suggestive but need further validation in independent cohorts.
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BibTeX
@article{dahlin2026genomewide,
title = {{A genome-wide association study on medulloblastoma}},
author = {Anna M. Dahlin and Carl Wibom and Ulrika Andersson and Jonas Bybjerg-Grauholm and Isabelle Deltour and David M. Hougaard and Michael E. Scheurer and Ching C. Lau and Roberta Mckean-Cowdin and Rebekah J. Kennedy and Long T. Hung and Janis Yee and Ashley S. Margol and Jessica Barrington-Trimis and W. James Gauderman and Maria Feychting and Joachim Schüz and Martin Röösli and Kristina Kjaerheim and Danuta Januszkiewicz-Lewandowska and Marta Fichna and Jerzy Nowak and Susan Searles Nielsen and Shahab Asgharzadeh and Lisa Mirabello and Ulf Hjalmars and Beatrice Melin},
journal = {Journal of Neuro-Oncology},
year = {2026},
month = oct,
doi = {10.1007/s11060-020-03424-9},
url = {https://hal.science/hal-05795607v1},
note = {CC BY},
}
RIS
TY - JOUR
TI - A genome-wide association study on medulloblastoma
AU - Anna M. Dahlin
AU - Carl Wibom
AU - Ulrika Andersson
AU - Jonas Bybjerg-Grauholm
AU - Isabelle Deltour
AU - David M. Hougaard
AU - Michael E. Scheurer
AU - Ching C. Lau
AU - Roberta Mckean-Cowdin
AU - Rebekah J. Kennedy
AU - Long T. Hung
AU - Janis Yee
AU - Ashley S. Margol
AU - Jessica Barrington-Trimis
AU - W. James Gauderman
AU - Maria Feychting
AU - Joachim Schüz
AU - Martin Röösli
AU - Kristina Kjaerheim
AU - Danuta Januszkiewicz-Lewandowska
AU - Marta Fichna
AU - Jerzy Nowak
AU - Susan Searles Nielsen
AU - Shahab Asgharzadeh
AU - Lisa Mirabello
AU - Ulf Hjalmars
AU - Beatrice Melin
PY - 2026
DA - 2026/10/12
JO - Journal of Neuro-Oncology
DO - 10.1007/s11060-020-03424-9
UR - https://hal.science/hal-05795607v1
AB - Introduction Medulloblastoma is a malignant embryonal tumor of the cerebellum that occurs predominantly in children. To find germline genetic variants associated with medulloblastoma risk, we conducted a genome-wide association study (GWAS) including 244 medulloblastoma cases and 247 control subjects from Sweden and Denmark. Methods Genotyping was performed using Illumina BeadChips, and untyped variants were imputed using IMPUTE2. Results Fifty-nine variants in 11 loci were associated with increased medulloblastoma risk (p < 1 × 10–5), but none were statistically significant after adjusting for multiple testing (p < 5 × 10–8). Thirteen of these variants were genotyped, whereas 46 were imputed. Genotyped variants were further investigated in a validation study comprising 249 medulloblastoma cases and 629 control subjects. In the validation study, rs78021424 (18p11.23, PTPRM) was associated with medulloblastoma risk with OR in the same direction as in the discovery cohort (ORT = 1.59, pvalidation = 0.02). We also selected seven medulloblastoma predisposition genes for investigation using a candidate gene approach: APC, BRCA2, PALB2, PTCH1, SUFU, TP53, and GPR161. The strongest evidence for association was found for rs201458864 (PALB2, ORT = 3.76, p = 3.2 × 10–4) and rs79036813 (PTCH1, ORA = 0.42, p = 2.6 × 10–3). Conclusion The results of this study, including a novel potential medulloblastoma risk loci at 18p11.23, are suggestive but need further validation in independent cohorts.
SN - 0167-594X
SN - 1573-7373
ER -