Maris JM et al. – A common genetic variation at chromosome band 6p22 is associated with susceptibility to neuroblastoma Methods
Genome-wide association study by genotyping blood DNA samples from 1,032 neuroblastoma pts and 2043 controls, using Illumina HumanHap550 BeadChip
Samples from 3 independent neuroblastoma pt grps (total 720 pts) and 2128 controls then genotyped to replicate significant associations
Results
Significant association between neuroblastoma and common minor alleles of 3 consecutive single-nucleotide polymorphisms (SNPs) at chromosome band 6p22 and containing predicted genes FLJ22536 and FLJ44180
Homozygosity for the at-risk G allele of the most significantly associated SNP, rs6939340, increased likelihood of neuroblastoma
Subsequent genotyping of 3 6p22 SNPs in 3 independent case series confirmed this association
Neuroblastoma pts homozygous for risk alleles at 6p22 were more likely to have metastatic (stage 4) disease, amplification of the MYCN oncogene in the tumor cells, and disease relapse
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