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Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54

icecream 添加于 2012-10-23 09:33 | 979 次阅读 | 0 个评论

作者
Wang L-D, Zhou F-Y, Li X-M, Sun L-D, Song X, Jin Y, Li J-M, Kong G-Q, Qi H, Cui J, Zhang L-Q, Yang J-Z, Li J-L, Li X-C, Ren J-L, Liu Z-C, Gao W-J, Yuan L, Wei W, Zhang Y-R, Wang W-P, Sheyhidin I, Li F, Chen B-P, Ren S-W, Liu B, Li D, Ku J-W, Fan Z-M, Zhou S-L, Guo Z-G, Zhao X-K, Liu N, Ai Y-H, Shen F-F, Cui W-Y, Song S, Guo T, Huang J, Yuan C, Huang J, Wu Y, Yue W-B, Feng C-W, Li H-L, Wang Y, Tian J-Y, Lu Y, Yuan Y, Zhu W-L, Liu M, Fu W-J, Yang X, Wang H-J, Han S-L, Chen J, Han M, Wang H-Y, Zhang P, Li X-M, Dong J-C, Xing G-L, Wang R, Guo M, Chang Z-W, Liu H-L, Guo L, Yuan ...
摘要
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; P(Uygur-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; P(Uygur-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.
详细资料
- 关键词: Aged; Asian Continental Ancestry Group/*genetics; Carcinoma, Squamous Cell/ethnology/*genetics; Case-Control Studies; Chromosomes, Human, Pair 10; Chromosomes, Human, Pair 20; Esophageal Neoplasms/ethnology/*genetics; Female; *Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Male; Membrane Proteins/*genetics; Membrane Transport Proteins; Middle Aged; Phosphoinositide Phospholipase C/*genetics; Polymorphism, Single Nucleotide/physiology
- 文献种类: Journal Article
- 期刊名称: Nature Genetics
- 期刊缩写: Nat Genet
- 期卷页: 2010年第42卷第9期 759-763页
- 地址: Cancer Research Center, Xinxiang Medical University, Xinxiang, Henan, China. ldwang@xxmu.edu.cn
- ISBN: 1061-4036
学科领域生物医药 » 预防卫生学
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