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IBD Risk Variants Associated With Increased Skin Cancer Risk

Cristalia Turck

There is a shared susceptibility between inflammatory bowel disease (IBD) and skin cancer risk within specific variants, according to a study published in Inflammatory Bowel Diseases.

Inflammatory bowel disease is associated with an increased risk of skin cancer,” researched explained. “The aims of this study were to determine whether IBD susceptibility variants are also associated with skin cancer susceptibility and if such risk is augmented by use of immune-suppressive therapy.

Participants of the UK Biobank were used in the discovery cohort while the validation cohort consisted of participants of the Michigan Genomics Initiative. As the prominent factor in this was skin cancer, participants were subgrouped into melanoma skin cancer (MSC) and nonmelanoma skin cancer (NMSC).

In the discovery cohort, multivariable logistic regression with controls (3:1 control-case) was conducted in order to identify genomic predictors of skin malignancy. In the validation cohort, cases of P<.05 were tested for replication. Immune suppressive medications caused effect modifications which was investigated for in validated nucleotide polymorphisms.

In total, the discovery cohort found 10,247 cases of NMSC as well as 1883 cases of MSC.  In the discovery cohort, 29 variants were associated with the risk of NMSC, 5 of which replicated in the validation cohort (increased risk, rs7773324-A [DUSP22; IRF4], rs2476601-G [PTPN22], rs1847472-C [BACH2], rs72810983-A [CPEB4]; decreased risk, rs6088765-G [PROCR; MMP24]). Further, the discovery cohort found 10,247 cases of NMSC as well as 1883 cases of MSC.

Of note, 12 variants of the discovery cohort were associated with MSC risk, 4 of which were replicated in the validation cohort.

The results of this study highlight shared genetic susceptibility across IBD and skin cancer, with increased risk of NMSC in those who carry risk variants in IRF4, PTPN22, CPEB4, and BACH2 and increased risk of MSC in those who carry a risk variant in IL2RA,” concluded the study authors.

Reference
Cushing KC, Du X, Chen Y, et al. Inflammatory bowel disease risk variants are associated with an increased risk of skin cancer. Inflamm Bowel Dis. Published online January 8, 2022. doi:10.1093/ibd/izab336

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