AUTHOR=Jelassi Refka , Dhouioui Sabrine , Ben Salah Hamza , Saidi Nasreddine , Mzoughi Nabiha , Ammi Radhia , Bouratbine Aida , Aoun Karim , Zidi Ines , Chelbi Hanen 

TITLE=rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis

JOURNAL=Frontiers in Genetics

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.864419

DOI=10.3389/fgene.2022.864419

ISSN=1664-8021

ABSTRACT=Background: Colorectal cancer (CRC) is a major public health problem worldwide and in Tunisia. It ranks among the first cancers in terms of incidence and cancer-related cause of death rates. Its pathogenesis is currently considered to be multifactorial involving genetic and environmental factors. Studies have suggested that IL-12RB1 may be involved in the susceptibility to inherited CRC. Hence, the interest of studying the role of single nucleotide polymorphisms (SNPs) within the IL-12RB1 gene (rs401502 and rs11575934) in susceptibility to CRC.
Aim: Our purpose was to assess whether genetic variants IL-12RB1 +1196G/C (rs401502) and IL-12RB1 +705A/G (rs11575934) within IL-12RB1 gene are associated with the CRC risk. 
Method: A total of 110 Tunisian patients with CRC and 141 healthy control subjects were included in this study. Genotyping was performed by High-Resolution Melting (HRM) analysis. All results were confirmed by direct DNA sequencing or PCR-RFLP methods. Later, the allele frequencies and genotype distribution were established and compared between control group and CRC patients.
Results: Our results shows that the mutant allele frequencies of rs401502 and rs11575934 SNPs were 24% and 30% respectively, in control group and 16%, 21% respectively among patients. In addition, the two SNP were in Hardy Weinberg Equilibrium (HWE) in both patients and controls. Association study showed a significant association of the two polymorphisms with CRC, according to the dominant genetic model (p=0.03 and 0.02, respectively). 
Conclusion: Our study shows a potential protective effect of the two studied IL-12RB1 gene polymorphisms (rs401502 and rs11575934) in CRC.