Carcinogenesis Advance Access originally published online on June 11, 2009
Carcinogenesis 2009 30(8):1353-1357; doi:10.1093/carcin/bgp123
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Novel single nucleotide polymorphism associations with colorectal cancer on chromosome 8q24 in African and European Americans
Sections of Gastroenterology and Genetic Medicine, Department of Medicine, University of Chicago Medical Center, Chicago, IL 60637, USA
* To whom correspondence should be addressed. Section of Genetic Medicine, Department of Medicine, University of Chicago Medical Center, MC 6091, Chicago, IL 60637, USA. Tel: +1 773 834 2271; Fax: +1 773 702 2567; Email: rkittles{at}medicine.bsd.uchicago.edu
Regions on chromosome 8q24 harbor susceptibility alleles for multiple cancers including colorectal (region 3) and prostate cancer (regions 1–4). The objectives of the present study were (i) to test whether single-nucleotide polymorphisms (SNPs) in region 4 are associated with colorectal cancer (CRC) in European or African Americans; (ii) to test whether 8q24 SNPs previously shown to be associated with colorectal and prostate cancer also show association in our multiethnic series and (iii) to test for association between 100 ancestry informative markers (AIMs) and CRC in both the African American and European American cohorts. In total, we genotyped nine markers on 8q24 and 100 unlinked AIMs in 569 CRC cases and 439 controls (490 European Americans and 518 African Americans) obtained retrospectively from a hospital-based sample. We found rs7008482 in 8q24 region 4 to be significantly associated with CRC in European Americans (P = 0.03). Also in region 4, we found that a second SNP, rs16900305, trended toward association with CRC in African Americans. The rs6983267 in region 3, previously implicated in CRC risk, trended toward association with disease in European Americans but not in African Americans. Finally, none of the 100 AIMs tested for association reached statistical significance after correction for multiple hypothesis testing. In summary, these results are evidence that 8q24 region 4 contains novel CRC-associated alleles in European and African Americans.
Abbreviations: AIM, ancestry-informative marker; CI, confidence interval; CRC, colorectal cancer; SNP, single-nucleotide polymorphism; OR, odds ratio; PCR, polymerase chain reaction
These authors contributed equally to this work. Received December 10, 2008; revised May 12, 2009; accepted May 14, 2009.