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@inproceedings{699875,
author = {Bienertová Vašků, Julie and Vašků, Vladimír and Vašků, Anna},
address = {2006},
booktitle = {Journal of Investigative Dermatology},
keywords = {proopiomelanocortin; gene; cutaneous T-cell lymphoma},
language = {eng},
location = {2006},
pages = {s33},
publisher = {European Society for Dermatological Research},
title = {Proopiomelanocortin Gene: A New Susceptibility Gene for Cutaneous T-cell Lymphoma},
url = {www.jidonline.cz},
year = {2006}
}
TY - JOUR
ID - 699875
AU - Bienertová Vašků, Julie - Vašků, Vladimír - Vašků, Anna
PY - 2006
TI - Proopiomelanocortin Gene: A New Susceptibility Gene for Cutaneous T-cell Lymphoma
PB - European Society for Dermatological Research
CY - 2006
KW - proopiomelanocortin
KW - gene
KW - cutaneous T-cell lymphoma
UR - www.jidonline.cz
N2 - 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.
ER -
BIENERTOVÁ VAŠKŮ, Julie, Vladimír VAŠKŮ and Anna VAŠKŮ. Proopiomelanocortin Gene: A New Susceptibility Gene for Cutaneous T-cell Lymphoma. Online. In \textit{Journal of Investigative Dermatology}. 2006: European Society for Dermatological Research, 2006. p.~s33, 1 pp. [citováno 2024-04-23]
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