Casula Milena, Alaibac Mauro, Pizzichetta Maria A, Bono Riccardo, Ascierto Paolo A, Stanganelli Ignazio, Canzanella Sergio, Palomba Grazia, Zattra Edoardo, Palmieri Giuseppe
Unit of Cancer Genetics, Institute of Biomolecular Chemistry, Consiglio Nazionale delle Ricerche, Sassari, Italy.
BMC Dermatol. 2009 Jul 22;9:7. doi: 10.1186/1471-5945-9-7.
A single nucleotide polymorphism (61A>G) in the epidermal growth factor (EGF) gene has been implicated in both melanoma pathogenesis and increased melanoma risk. To further evaluate this association, we conducted a case-control study in a clinic-based Italian population.
Individuals with less than 10 (N = 127) or more than 100 (N = 128) benign nevi, and patients with cutaneous melanoma (N = 418) were investigated for the EGF +61A>G polymorphism, using an automated sequencing approach.
Overall, no difference in EGF genotype frequencies was observed among subjects with different number of nevi as well as when non-melanoma healthy controls were compared with the melanoma patients. However, a heterogeneous distribution of the frequencies of the G/G genotype was detected among cases and controls originating from North Italy (21.1 and 18.3%, respectively) vs. those from South Italy (12.6 and 17.1%, respectively).
Our findings further suggest that EGF +61A>G polymorphism may have a limited impact on predisposition and/or pathogenesis of melanoma and its prevalence may vary in different populations.
表皮生长因子(EGF)基因中的单核苷酸多态性(61A>G)与黑色素瘤的发病机制及黑色素瘤风险增加均有关联。为进一步评估这种关联,我们在一个基于诊所的意大利人群中开展了一项病例对照研究。
采用自动测序方法,对良性痣少于10个(N = 127)或多于100个(N = 128)的个体以及皮肤黑色素瘤患者(N = 418)进行了EGF +61A>G多态性检测。
总体而言,不同痣数量的个体之间以及非黑色素瘤健康对照与黑色素瘤患者之间,EGF基因型频率均未观察到差异。然而,在源自意大利北部的病例和对照(分别为21.1%和18.3%)与源自意大利南部的病例和对照(分别为12.6%和17.1%)之间,检测到G/G基因型频率的分布存在异质性。
我们的研究结果进一步表明,EGF +61A>G多态性可能对黑色素瘤的易感性和/或发病机制影响有限,且其在不同人群中的患病率可能有所不同。