1Department of Pediatrics, University of Minnesota - Duluth, Minnesota, USA.
Mol Cancer. 2009 Nov 30;8:113. doi: 10.1186/1476-4598-8-113.
Susceptibility to basal cell carcinoma results from complex interactions between ultraviolet radiation exposure and genetic factors. The GLI1 oncogene is believed to play a role in the genesis of these tumors. We determined whether GLI1 polymorphisms were risk factors for developing basal cell carcinoma, either alone or in combination with patterns of past sun exposure, and whether there were functional differences among different GLI1 haplotypes.
GLI1 genotypes at c.2798 and c.3298 from 201 basal cell carcinoma patients were compared to 201 age and sex-matched controls. Neither genotype nor haplotype frequencies differed between cases and controls. However, the odds of developing basal cell carcinoma on the trunk compared to the head/neck appeared somewhat lower with carriers of the c.3298GC than the CC genotype. There was no evidence for interactions between skin type, childhood sunburning, average adult sun exposure, adult sunbathing, or intermittency of sun exposure and GLI1 haplotype. Additionally, we found no significant differences in transcription activation or cell transforming ability among the four GLI1 haplotypes.
These results suggest that different GLI1 genotypes alone or in combination with past sun exposure patterns as assessed in this study do not affect basal cell carcinoma risk.
基底细胞癌的易感性是由紫外线辐射暴露和遗传因素之间的复杂相互作用引起的。GLI1 癌基因被认为在这些肿瘤的发生中起作用。我们确定了 GLI1 多态性是否是单独或与过去的阳光暴露模式相结合导致基底细胞癌的危险因素，以及不同 GLI1 单倍型之间是否存在功能差异。
将 201 例基底细胞癌患者的 c.2798 和 c.3298 处的 GLI1 基因型与 201 名年龄和性别匹配的对照进行比较。病例组和对照组之间的基因型或单倍型频率没有差异。然而，与 CC 基因型相比，c.3298GC 携带者在躯干上发生基底细胞癌的几率似乎略低，而在头部/颈部则较低。没有证据表明皮肤类型、儿童期晒伤、成年期平均阳光暴露、成年日光浴或阳光暴露间歇性与 GLI1 单倍型之间存在相互作用。此外，我们发现这四种 GLI1 单倍型之间的转录激活或细胞转化能力没有显著差异。
这些结果表明，本研究评估的不同 GLI1 基因型单独或与过去的阳光暴露模式相结合并不会影响基底细胞癌的风险。
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