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Updated: Aug 5, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Interleukin-1β Gene (IL1B) rs1143634 (+3954 C>T) Polymorphism and Cutaneous Melanoma Risk: An Observational
Sabina Cauci1, Cinzia Buligan1,2, Luca Bazzichetto1
1Department of Medicine (DAME), University of Udine, Piazzale Kolbe 4, 33100 Udine, Italy.
Genes
|July 28, 2026
Summary
The interleukin-1β gene (IL1B) rs1143634 T allele may increase cutaneous melanoma risk. This genetic variant was more frequent in melanoma patients, suggesting a potential role in cancer susceptibility.
Area of Science:
- Immunology
- Genetics
- Dermatology
Background:
- Immune modulation is critical in cutaneous melanoma.
- Host genetic factors may influence antitumor immune responses.
- The study focuses on the IL1B gene and its association with melanoma risk.
Purpose of the Study:
- To investigate the association between the IL1B exon 5 synonymous SNP rs1143634 (+3954 C>T) and cutaneous melanoma.
- To analyze the role of this genetic polymorphism in melanoma susceptibility within a Northeast Italian cohort.
Main Methods:
- A case-control study involving 133 Caucasian melanoma patients and 945 healthy controls.
- Genotyping of the rs1143634 polymorphism using PCR-restriction fragment length polymorphism (PCR-RFLP).
Main Results:
- Melanoma patients exhibited higher frequencies of the rs1143634 T allele and CT genotype compared to controls.
- The CC genotype was less frequent in melanoma patients.
- TT + CT genotypes were associated with non-metastatic melanoma and inversely with Stage IV disease; an association with upper-limb melanoma was also noted.
Conclusions:
- Preliminary findings suggest a potential link between IL1B rs1143634 T allele carriage and cutaneous melanoma susceptibility.
- The observed associations with Stage IV and upper-limb melanoma require further investigation as hypothesis-generating.
- Larger studies with advanced statistical designs and functional validation are recommended to confirm these results.
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