A genome-wide association study on medulloblastoma

Area of Science:

• Genetics
• Oncology
• Pediatrics

Background:

• Medulloblastoma is a common malignant brain tumor in children.
• Identifying germline genetic variants can help understand medulloblastoma risk.

Purpose of the Study:

• To conduct a genome-wide association study (GWAS) to identify germline genetic variants associated with medulloblastoma risk.

Main Methods:

• Genome-wide association study (GWAS) with 244 cases and 247 controls.
• Genotyping using Illumina BeadChips and imputation with IMPUTE2.
• Validation of genotyped variants in an independent cohort of 249 cases and 629 controls.

Main Results:

• Fifty-nine variants in 11 loci showed association with medulloblastoma risk (p < 1x10^-5).
• rs78021424 at 18p11.23 (PTPRM) was associated with medulloblastoma risk (OR=1.59, p=0.02) in the validation cohort.
• Strongest associations were found for rs201458864 in PALB2 (OR=3.76) and rs79036813 in PTCH1 (OR=0.42).

Conclusions:

• The study suggests a novel potential medulloblastoma risk locus at 18p11.23.
• Findings require further validation in larger, independent cohorts.