Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
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中国受试者食管鳞状细胞癌全基因组关联研究确定了 PLCE1 和 C20orf54 的易感位点
DOI：
10.1038/ng.648
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发表时间：
2010-09-01
期刊：
影响因子：
30.8
通讯作者：
Zhang, Xue-Jun
中科院分区：
文献类型：
--
作者：
Wang, Li-Dong;Zhou, Fu-You;Zhang, Xue-Jun
我们通过对1,077名中国汉族食管鳞状细胞癌患者和1,733名对照者进行基因分型，进行了食管鳞状细胞癌（ESCC）的全基因组关联研究。我们选择了18个有希望的SNPs在另外7，673例ESCC和11，013例中国汉族对照受试者以及303例ESCC和537例中国维吾尔族-哈萨克族对照受试者中进行复制。我们发现了两个以前未知的ESCC易感基因位点：PLCE 1，位于10 q23（P-Han组合（对于ESCC）= 7.46 × 10（-56），比值比（OR）= 1.43; ESCC的PUYGUR-Kazakh = 5.70 x 10（-4），OR = 1.53）和20 p13的C20 orf 54（P-汉族合并（ESCC）= 1.21 x 10（-11），OR = 0.86; PUYGUR-Kazakh合并ESCC = 7.88 x 10（-3），OR = 0.66）。我们还证实了2，766例贲门腺癌病例和同样的11，013例对照受试者的相关性（PLCE 1，P-Han的GCA = 1.74 x 10（-39），OR = 1.55和C20 orf 54，P-Han的GCA = 3.02 x 10（-3），OR = 0.91）。PLCE 1和C20 orf 54在ESCC和GCA中具有重要的生物学意义。PLCE 1可能调节细胞的生长、分化、凋亡和血管生成。C20 orf 54负责运输核黄素，核黄素缺乏已被证明是ESCC和GCA的风险因素。
We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (P-Han combined (for ESCC) = 7.46 x 10(-56), odds ratio (OR) = 1.43; PUygur-Kazakh for ESCC = 5.70 x 10(-4), OR = 1.53) and C20orf54 at 20p13 (P-Han combined (for ESCC) = 1.21 x 10(-11), OR = 0.86; PUygur-Kazakh for ESCC = 7.88 x 10(-3), OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, P-Han for GCA = 1.74 x 10(-39), OR = 1.55 and C20orf54, P-Han for GCA = 3.02 x 10(-3), OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA.