IL1B-CGTC haplotype is associated with colorectal cancer in admixed individuals with increased African ancestry View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

María Carolina Sanabria-Salas, Gustavo Hernández-Suárez, Adriana Umaña-Pérez, Konrad Rawlik, Albert Tenesa, Martha Lucía Serrano-López, Myriam Sánchez de Gómez, Martha Patricia Rojas, Luis Eduardo Bravo, Rosario Albis, José Luis Plata, Heather Green, Theodor Borgovan, Li Li, Sumana Majumdar, Jone Garai, Edward Lee, Hassan Ashktorab, Hassan Brim, Li Li, David Margolin, Laura Fejerman, Jovanny Zabaleta

ABSTRACT

Single-nucleotide polymorphisms (SNPs) in cytokine genes can affect gene expression and thereby modulate inflammation and carcinogenesis. However, the data on the association between SNPs in the interleukin 1 beta gene (IL1B) and colorectal cancer (CRC) are conflicting. We found an association between a 4-SNP haplotype block of the IL1B (-3737C/-1464G/-511T/-31C) and CRC risk, and this association was exclusively observed in individuals with a higher proportion of African ancestry, such as individuals from the Coastal Colombian region (odds ratio, OR 2.06; 95% CI 1.31-3.25; p < 0.01). Moreover, a significant interaction between this CRC risk haplotype and local African ancestry dosage was identified in locus 2q14 (p = 0.03). We conclude that Colombian individuals with high African ancestry proportions at locus 2q14 harbour more IL1B-CGTC copies and are consequently at an increased risk of CRC. This haplotype has been previously found to increase the IL1B promoter activity and is the most frequent haplotype in African Americans. Despite of limitations in the number of samples and the lack of functional analysis to examine the effect of these haplotypes on CRC cell lines, our results suggest that inflammation and ethnicity play a major role in the modulation of CRC risk. More... »

PAGES

41920

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/srep41920

    DOI

    http://dx.doi.org/10.1038/srep41920

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1083525977

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28157220


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