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 a previously unknown susceptibility locus for ESCC: PLCE1 at 10q23 (PHan combined for ESCC = 7.46 × 10−56, odds ratio (OR) = 1.43; PUygur-Kazakh for ESCC = 5.70 × 10−4, OR = 1.53). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma and the same 11,013 control subjects (PLCE1, PHan for GCA = 1.74 × 10−39, OR = 1.55. PLCE1 has important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis.
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We thank all the patients and their family members whose contributions made this work possible; medical students from Xinxiang Medical University for sample and data collections; Y. Xing (Xinxiang Medical University) for organizing field work for sample collections and finding financial support for this study; the genotyping at Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, China, Hefei, Anhui for genotyping and statistical and bioinformatic analyses; B.G. Ma (Henan Provincial People's Hospital), W. Huang (Health Department of Henan Province), S.Y. Lian (Tumor Hospital of Linzhou), Z. Wang (Anyang Tumor Hospital), W. Zhang and J.T. Zhao (both People's Hospital of Heibi) for field work organization; J.H. Bian (Shantou University), J.J. Liu (Human Genetics, Genome Institute of Singapore) and I. Ding (National Cancer Institute, NIH) for discussions about the manuscript. Supported by Xinxiang Medical University Key Scientific Program (2009-5), the National Natural Science Foundations (30670956, 30971133), 863 HighTech Key Projects (2006AA02A403, 2007AA02Z161), China Key Program on Basic Research (2007CB516812), Special Scientific Programs from Science and Technology Department (2009-8), Health Department (2009-10) and Education Department (2008-7) of Henan Province and Anhui Provincial Special Scientific Program (2007-7).
Supplementary Figures 1–6, Supplementary Tables 1 and 2 and Supplementary Note
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Diseases of the Esophagus (2019)