Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.
Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.
复制标题
黑素生成相关基因的变异与日本人群的皮肤癌风险相关。
DOI：
10.1111/1346-8138.12432
复制
发表时间：
2014
期刊：
影响因子：
3.1
通讯作者：
Suzuki T
中科院分区：
文献类型：
--
作者：
Yoshizawa J;Abe Y;Oiso N;Fukai K;Hozumi Y;Nakamura T;Narita T;Motokawa T;Wakamatsu K;Ito S;Kawada A;Tamiya G;Suzuki T
已知人类皮肤颜色与皮肤癌的风险有关。一些报告表明，色素沉着相关基因变异与高加索人群的皮肤癌风险相关，但在东亚人群中没有类似的报告。这项研究旨在评估色素沉着相关基因与日本人群皮肤癌风险之间的关联。我们研究了198名日本皮肤癌患者的4种色素沉着相关基因的12种变体与黑色素指数变化之间的关联，并通过使用多元逻辑回归分析将这些结果与500名日本对照进行了比较。此外，我们分析了107名日本皮肤癌患者的独立样本。在Yamagata组中，眼皮肤白化病2基因（OCA 2）中的非同义变异H615 R与恶性黑色素瘤的风险相关（比值比[OR]，0.38; 95%置信区间[CI]，0.17-0.86;P= 0.020）。另一种非同义变异体A481 T inOCA 2与大坂组中鳞状细胞癌和光化性角化病的风险相关（OR，3.16; 95% CI，1.41-7.04;P= 0.005）。在恶性黑色素瘤病例中，OCA 2 H615 R中的次要等位基因可能诱导了日光暴露皮肤病变的发生（OR，26.32; 95% CI，1.96-333;P= 0.014）。我们的研究结果表明，某些OCA 2变异是日本人群皮肤癌发病的明确危险因素。
Human skin color is known to be associated with the risk of cutaneous cancer. Some reports indicated that pigmentation‐related gene variants were associated with cutaneous cancer risk in Caucasian populations, but there are no similar reports in East Asian populations. This study aimed to evaluate the association between pigmentation‐related genes and the risk of skin cancer in Japanese populations. We studied the associations between 12 variants of four pigmentation‐related genes and melanin index variations in 198 Japanese patients with skin cancer and compared these findings to those of 500 Japanese controls by using multiple logistic regression analysis. Furthermore, we analyzed an independent sample of 107 Japanese patients with skin cancer. A non‐synonymous variant, H615R in the oculocutaneous albinism 2 gene (OCA2), was associated with the risk of malignant melanoma in the Yamagata group (odds ratio [OR], 0.38; 95% confidence interval [CI], 0.17–0.86;P= 0.020). Another non‐synonymous variant, A481T inOCA2, was associated with the risk of squamous cell carcinoma and actinic keratosis in the Osaka group (OR, 3.16; 95% CI, 1.41–7.04;P= 0.005). In malignant melanoma cases, the minor allele inOCA2H615R might have induced the development of lesions in sun‐exposed skin (OR, 26.32; 95% CI, 1.96–333;P= 0.014). Our results suggest that someOCA2variants are definite risk factors for the onset of cutaneous cancer in Japanese populations.