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A genome-wide association study on medulloblastoma

Dahlin, Anna M. and Wibom, Carl and Andersson, Ulrika and Bybjerg-Grauholm, Jonas and Deltour, Isabelle and Hougaard, David M. and Scheurer, Michael E. and Lau, Ching C. and McKean-Cowdin, Roberta and Kennedy, Rebekah J. and Hung, Long T. and Yee, Janis and Margol, Ashley S. and Barrington-Trimis, Jessica and Gauderman, W. James and Feychting, Maria and Schüz, Joachim and Röösli, Martin and Kjaerheim, Kristina and Cefalo Study Group, and Januszkiewicz-Lewandowska, Danuta and Fichna, Marta and Nowak, Jerzy and Searles Nielsen, Susan and Asgharzadeh, Shahab and Mirabello, Lisa and Hjalmars, Ulf and Melin, Beatrice. (2020) A genome-wide association study on medulloblastoma. Journal of neuro-oncology, 147 (2). pp. 309-315.

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Official URL: https://edoc.unibas.ch/76446/

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Abstract

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.; Genotyping was performed using Illumina BeadChips, and untyped variants were imputed using IMPUTE2.; 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 (OR; T; = 1.59, p; validation; = 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, OR; T; = 3.76, p = 3.2 × 10; -4; ) and rs79036813 (PTCH1, OR; A; = 0.42, p = 2.6 × 10; -3; ).; The results of this study, including a novel potential medulloblastoma risk loci at 18p11.23, are suggestive but need further validation in independent cohorts.
Faculties and Departments:09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH)
09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH) > Department of Epidemiology and Public Health (EPH) > Environmental Exposures and Health > Physical Hazards and Health (Röösli)
UniBasel Contributors:Röösli, Martin
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Kluwer
ISSN:0167-594X
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:23 Apr 2020 14:50
Deposited On:23 Apr 2020 14:50

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