ArticleJournal of cellular and molecular medicine2017
The functional variant rs34330 of CDKN1B is associated with risk of neuroblastoma.
Article in Journal of cellular and molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 57 citations in OpenAlex.
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- The castration-resistant prostate cancer-associated SNP rs11067228 facilitates neuroendocrine differentiation through an enhancer-mediated chromatin interaction with SRRM4.International journal of biological sciences · 2026Article
- Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province.BMC cancer · 2025Article
- The relative contributions of genetic and non-genetic factors to the risk of neuroblastoma.Pediatric investigation · 2025Review
- Regulatory non-coding somatic mutations as drivers of neuroblastoma.British journal of cancer · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation.Human genetics · 2024Article
- Association of Genetic Variants at theInternational journal of molecular sciences · 2024Article
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- FGFR1 is a potential therapeutic target in neuroblastoma.Cancer cell international · 2022Article
- Article
- Lupus Susceptibility Region Containing CDKN1B rs34330 Mechanistically Influences Expression and Function of Multiple Target Genes, Also Linked to Proliferation and Apoptosis.Arthritis & rheumatology (Hoboken, N.J.) · 2021Article
- Molecular Genetics in Neuroblastoma Prognosis.Children (Basel, Switzerland) · 2021Review
- Article
- Genome-Wide Association Study for the Identification of Novel Genetic Variants Associated with the Risk of Neuroblastoma in Korean Children.Cancer research and treatment · 2020Article
- METTL14 Gene Polymorphisms Confer Neuroblastoma Susceptibility: An Eight-Center Case-Control Study.Molecular therapy. Nucleic acids · 2020Article
- Association between METTL3 gene polymorphisms and neuroblastoma susceptibility: A nine-centre case-control study.Journal of cellular and molecular medicine · 2020Article
- Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.The Journal of clinical endocrinology and metabolism · 2020Article
- Association of PARP1 polymorphisms with response to chemotherapy in patients with high-risk neuroblastoma.Journal of cellular and molecular medicine · 2020Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
The genetic aetiology of sporadic neuroblastoma is still largely unknown. We have identified diverse neuroblastoma susceptibility loci by genomewide association studies (GWASs); however, additional SNPs that likely contribute to neuroblastoma susceptibility prompted this investigation for identification of additional variants that are likely hidden among signals discarded by the multiple testing corrections used in the analysis of genomewide data. There is evidence suggesting the CDKN1B, coding for the cycle inhibitor p27Kip1, is involved in neuroblastoma. We thus assess whether genetic variants of CDKN1B are associated with neuroblastoma. We imputed all possible genotypes across CDKN1B locus on a discovery case series of 2101 neuroblastoma patients and 4202 genetically matched controls of European ancestry. The most significantly associated rs34330 was analysed in an independent Italian cohort of 311 cases and 709 controls. In vitro functional analysis was carried out in HEK293T and in neuroblastoma cell line SHEP-2, both transfected with pGL3-CDKN1B-CC or pGL3-CDKN1B-TT constructs. We identified an association of the rs34330 T allele (-79C/T) with the neuroblastoma risk (P
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