Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans
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Updated: May 25, 2026
Associated Chromosome Trap for Identifying Long-range DNA Interactions
Published on: April 23, 2011
Valeria Latorre1, Sharon J Diskin, Maura A Diamond
1Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104, USA.
Insights
Common BARD1 single-nucleotide polymorphisms (SNPs) are associated with neuroblastoma risk in African-American children. Further research in diverse populations is crucial for validating genetic findings in neuroblastoma.
Area of Science:
- Genetics
- Pediatric Oncology
- Cancer Epidemiology
Background:
- Neuroblastoma, a pediatric cancer, disproportionately affects European-American children but poses a higher risk and worse survival for African-American children.
- Genome-wide association studies (GWAS) have identified neuroblastoma-associated single-nucleotide polymorphisms (SNPs) in European-American populations, but their relevance in African-Americans remains unknown.
Purpose of the Study:
- To investigate the association of known neuroblastoma-related SNPs in European-American children with neuroblastoma risk in African-American children.
- To identify potential genetic risk factors for neuroblastoma in the underrepresented African-American population.
Main Methods:
- Genotyping and imputation of SNPs in three previously reported neuroblastoma-associated gene regions.
- Association testing of these SNPs in 390 African-American neuroblastoma cases and 2,500 ethnically matched controls.
Main Results:
- Single-nucleotide polymorphisms (SNPs) in the BARD1 gene region demonstrated a similar association pattern with neuroblastoma in both African-American and European-American children.
- A more limited linkage disequilibrium in African-Americans suggests a smaller candidate region for causal variants compared to previous studies.
- Limited associations were observed for SNPs in the LMO1 and FLJ22536 gene regions.
Conclusions:
- Common BARD1 SNPs influence neuroblastoma risk in African-Americans.
- The lack of confirmed association for other SNPs may be due to differing linkage disequilibrium patterns or insufficient statistical power.
- Expanding GWAS to African descent populations is vital for validating findings and refining the localization of causal variants for neuroblastoma.
Background:
Neuroblastoma is an often fatal pediatric cancer more frequent in European-American than African-American children. African-American children, however, are at higher risk for the more severe form of neuroblastoma and have worse overall survival than European-American children. Genome-wide association studies (GWAS) have identified several single-nucleotide polymorphisms (SNP) associated to neuroblastoma in children of European descent. Knowledge of their association to neuroblastoma in African-American children is still lacking.
Methods:
We genotyped and imputed SNPs located in three gene regions reported to be associated to neuroblastoma in children of European descent, and tested them for association in 390 African-American patients with neuroblastoma compared with 2,500 healthy, ethnically matched controls.
Results:
SNPs in the BARD1 gene region show a similar pattern of association to neuroblastoma in African-American and European-American children. The more restricted extent of linkage disequilibrium in the African-American population suggests a smaller candidate region for the putative causal variants than previously reported. Limited association was observed at the other two gene regions tested, including LMO1 in 11p15 and FLJ22536 in 6p22.
Conclusions:
Common BARD1 SNPs affect risk of neuroblastoma in African-Americans. The role of other SNPs associated to neuroblastoma in children of European descent could not be confirmed, possibly due to different patterns of linkage disequilibrium or limited statistical power to detect association to variants with small effect on disease risk. Extension of GWAS to populations of African descent is important to confirm their results and validity beyond the European populations and can help to refine the location of the putative causal variants.
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