The role of polymorphism of interleukin 2, 10, 13 and TNF-α genes in cutaneous T-cell lymphoma pathogenesis

Abstract

IntroductionAs the pathogenesis of cutaneous T-cell lymphomas (CTCL) is not fully understood, inherited gene polymorphisms are considered to play a role in the development of lymphomas.AimTo investigate whether certain gene polymorphisms might be involved in the development of CTCL.Material and methodsIn the case-control study we compared the frequency of nine selected single nucleotide polymorphisms (SNP) of seven genes (rs1800587/–889 C/T of interleukin (IL)-1α, rs2069762/–330G/T) and rs2069763/+166G/T of IL-2, rs1800925/–1112 C/T of IL-13, rs1800896/–1082 A/G of IL-10, rs4073/–251 A/T of IL-8, rs5370/K198N, rs180054/–1370T/G of endothelin-1 and rs1800629/–308 G/A of TNF-α) in 43 CTCL and Polish cases using the amplification refractory mutation system polymerase chain reaction method.ResultsWe have found that two genotypes, –330GG of IL-2 and –1112TT of IL-13 both promoter variants associated with “hypertranscription phenotype”, were over-represented in CTCL patients compared to healthy controls, and they increase the risk of malignancy development (OR = 5.82, p = 0.001 for IL-2 –330 GG, and OR = 5.67, p = 0.0024 for IL-13 –1112 TT). On the other hand, high transcription –308A allele of the TNF-α gene and –1082GG of IL-10 genotype is less frequent in lymphoma patients and has protective effects on the development of CTCL (OR = 0.45, p = 0.0466 for –308A of TNF-α, and OR = 0.35, p = 0.0329 for –1082GG of IL-10 genes).ConclusionsOur results indicate that hypertranscription promoter variants of IL-2 and IL-13 genes could be estimated as the risk factor for development of CTCL, while TNF-α and IL-10 variants have a protective effect.

Genetic Polymorphism of Cytokines as a Predictor of Phenotypic Development of Chronic Pain Syndrome in Cancer Patients

“…Individual differences of severe pain, cancer-related weakness, depression, and neurotoxicity of opioids in oncological patients give rise to clinical interest in developing a patient-specific approach to analgesics and accompanying therapy aimed at maintaining quality of life in patients with malignant tumors. Protective effect over T-cell lymphoma (44) Lack of association between polymorphism and the risk of hepatocellular carcinoma development in people of the Asian race (25) The risk of hepatocellular carcinoma development in the population of China (45) The risk of esophageal squamous cell cancer and esophageal acinic cell carcinoma (21) Homozygous (AA) and heterozygous (AG) subjects have a high risk of colorectal cancer development in the Mexican population (46) The risk of oral cavity cancer (22) The risk of esophageal cancer in the Chinese population (23) TNF-α 308 G>A (rs180062…”

“…The protective effect in relation to T-cell lymphoma (44) The risk of stomach cancer (27) The risk of urologic cancer for the Asian population (47) 592 C>А The risk of colorectal and urologic cancer in the population of Eastern Asia (47,48,49) 1082A>G (rs1800896)…”

The polymorphisms of IL-6/STAT3 signaling pathway may contribute to cutaneous T-cell lymphomas susceptibility

“…STAT3 upregulation in CTCL is proved, but the relationship between STAT3 genetic variants and CTCL has not been studied yet. Polymorphisms of various cytokines in CTCL and their association with disease development have already been studied [40][41][42][43]; however, to the best of our knowledge, there is no publication analyzing IL-6 serum level together with IL-6 and STAT3 gene polymorphisms in CTCL. The aim of the study was to assess the frequency of IL-6 gene polymorphisms in CTCL patients, relationship between IL-6/STAT3 gene polymorphisms and IL-6 serum level and clinical values such as stage of the disease and pruritus.…”

Genetic polymorphisms in immunity related genes and the vitamin D receptor gene and risk of cutaneous T‐cell lymphoma in Greek population

“…1,2 Several alpha-HPV types rarely (<1%) detected as monoinfections in cervical cancers are classified as probably (HPV68) or possibly (HPV26,30,34,53,66,67,69,70,73,82,85,97) carcinogenic (pHR-HPV types). 2,3 The association of alpha-HPV with both benign and (pre)-malignant anogenital and oropharyngeal disease is well established. In contrast, alpha-HPV-induced squamous cell carcinoma (SCC) of the non-genital skin is rare.…”

“…group of primary cutaneous diseases, whose etiology remains elusive. 1,2 Genetic susceptibility to CTCL is poorly understood [3][4][5][6][7] and has not been studied in the Greek population. Vitamin D, a hormone with a wide repertoire of immune-and tumor-related features, has recently emerged as a key molecule in a number of diseases.…”