Open Access Open Badges Research article

The 4q27 locus and prostate cancer risk

Elizabeth A Tindall12, Hoa N Hoang3, Melissa C Southey4, Dallas R English35, John L Hopper5, Graham G Giles35, Gianluca Severi35 and Vanessa M Hayes12*

Author Affiliations

1 Cancer Genetics Group, Children's Cancer Institute Australia for Medical Research, Sydney Children's Hospital, High St, Randwick, NSW, Australia

2 Faculty of Medicine, University of New South Wales, Randwick, NSW Australia

3 Cancer Epidemiology Centre, The Cancer Council Victoria, Carlton, Vic, Australia

4 Department of Pathology, University of Melbourne, Melbourne, Vic, Australia

5 Centre for Molecular, Environmental, Genetic, and Analytical Epidemiology, University of Melbourne, Melbourne, Vic, Australia

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BMC Cancer 2010, 10:69  doi:10.1186/1471-2407-10-69

Published: 25 February 2010



Chronic inflammation is considered to be implicated in the development of prostate cancer. In this study we are the first to investigate a potential association between variants in an autoimmune related region on chromosome 4q27 and prostate cancer risk. This region harbors two cytokine genes IL-2 and the recently described IL-21.


We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs13119723, rs17388568, rs3136534, rs6822844 and rs6840978) and one functional IL-2 promoter variant (rs2069762) for possible association with prostate cancer risk using the Australian Risk Factors for Prostate Cancer case-control Study.


Overall, our results do not support an association between the seven variants at position 4q27 and prostate cancer risk. Per allele odds ratios (ORs) were not significantly different from 1 (all P-values = 0.06). However, we found suggestive evidence for a significant association between the presence of the rs13119723 variant (located in a protein of unknown function) and men with a family history of prostate cancer in first-degree relatives (P-value for interaction 0.02). The per allele OR associated with this variant was significantly higher than 1 (2.37; 95% C.I. = 1.01-5.57).


We suggest that genetic variation within the chromosome 4q27 locus might be associated with prostate cancer susceptibility in men with a family history of the disease. Furthermore, our study alludes to a potential role of unknown protein KIAA1109 in conferring this risk.