Proopiomelanocortin Gene: A New Susceptibility Gene for Cutaneous T-cell Lymphoma
| Authors | |
|---|---|
| Year of publication | 2006 |
| Type | Article in Proceedings |
| Conference | Journal of Investigative Dermatology |
| MU Faculty or unit | |
| Citation | |
| Web | http://www.jidonline.cz |
| Field | Genetics and molecular biology |
| Keywords | proopiomelanocortin; gene; cutaneous T-cell lymphoma |
| Description | Recently, it has been demonstrated that proopiomelanocortin (POMC) is widely expressed and produced within the keratinocytes, melanocytes and dermal microvascular endothelial cells suggesting the possibility of its auto/paracrine role in controlling skin metabolism. Aim of the study was to investigate possible associations of two common POMC gene polymorphisms (rs3754860=RsaI and rs1009388=AvaI) and cutaneous T-cell lymphomas (CTCL), with respect to treatment responsiveness. 95 patients with CTCL, diagnosed and treated at the 1st Department of Dermatology of St Anns Faculty Hospital Brno (65 men and 30 women, median age 62, range 26-101 years) plus 198 controls (133 men and 65 women, median age 58, age range 26-80) without personal or family history of skin diseases and without personal history of malignancy were tested for association of RsaI and AvaI polymorphisms of POMC gene. Significant differences in genotype distributions as well as allelic frequencies of AvaI polymorphism between CTCL cases and controls were observed (pg= 0.016, pa= 0.008). Moreover, there is half a risk for CTCL in CC genotype carriers (OR= 0.558, 95% CI=0.339-0.918, pcorr= 0.03). Furthermore, when investigating the double genotype distributions of RsaI and AvaI polymorphisms, a significant decrease in ++CC associated genotype frequency was observed in CTCL cases (OR= 0.560, 95% CI=0.29-1.11, p=0.06). No associations of investigated polymorphisms and patients baseline characteristics, such as age, gender and family history of severe skin disorders were proved. Based on our results, POMC seems to be a strong genetic factor in CTCL and thus we suggest it might be considered a CTCL susceptibility gene. Presented data support the hypothesis of possible involvement of POMC gene variability in CTCL ethiopathogenesis; however, more research is necessary to provide the precise insight into POMC role in CTCL development. |
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