Maris JM et al. - A common genetic variation at chromosome band 6p22 is associated with susceptibility to neuroblastoma Methods
Genomewide association study by genotyping blood DNA samples from 1,032 neuroblastoma pts and 2043 European descent controls
Samples from 3 independent pt grps with neuroblastoma (720 pts) and 2128 controls 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 the predicted genes FLJ22536 and FLJ44180
Homozygosity for the at-risk G allele of the most significantly associated SNP, rs6939340, increased likelihood of neuroblastoma development
Subsequent genotyping of the 3 6p22 SNPs in 3 independent case series confirmed the association
Neuroblastoma pts homozygous for the risk alleles at 6p22 were more likely to have metastatic (stage 4) disease, MYCN oncogene amplification in tumor cells, and disease relapse
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