title: Racial Differences in Esophageal Squamous Cell Carcinoma: Incidence and Molecular Features.
abstract: The incidence and histological type of esophageal cancer are highly variable depending on geographic location and race/ethnicity. Here we want to determine if racial difference exists in the molecular features of esophageal cancer. We firstly confirmed that the incidence rate of esophagus adenocarcinoma (EA) was higher in Whites than in Asians and Blacks, while the incidence of esophageal squamous cell carcinoma (ESCC) was highest in Asians. Then we compared the genome-wide somatic mutations, methylation, and gene expression to identify differential genes by race. The mutation frequencies of some genes in the same pathway showed opposite difference between Asian and White patients, but their functional effects to the pathway may be consistent. The global patterns of methylation and expression were similar, which reflected the common characteristics of ESCC tumors from different populations. A small number of genes had significant differences between Asians and Whites. More interesting, the racial differences of COL11A1 were consistent across multiple molecular levels, with higher mutation frequency, higher methylation, and lower expression in White patients. This indicated that COL11A1 might play important roles in ESCC, especially in White population. Additional studies are needed to further explore their functions in esophageal cancer.
authors.affiliation: Shanghai High School, Shanghai 200231, China.
authors.forename: Shirui
authors.identifier: 0000-0002-9863-4292
authors.initials: S
authors.lastname: Chen
authors.affiliation: Children's Hospital of Nanjing Medical University, Nanjing 211166, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Zhou
authors.affiliation: Key Lab of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.
authors.forename: Liguang
authors.initials: L
authors.lastname: Yang
authors.affiliation: Key Lab of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.
authors.forename: Guohui
authors.identifier: 0000-0002-2888-1335
authors.initials: G
authors.lastname: Ding
authors.affiliation: Key Lab of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.
authors.forename: Hong
authors.identifier: 0000-0001-5679-9980
authors.initials: H
authors.lastname: Li
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D000368:Aged; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D024161:Collagen Type XI / Q000096:biosynthesis* / Q000235:genetics; D019175:DNA Methylation / Q000235:genetics; D004938:Esophageal Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008297:Male; D008875:Middle Aged; D044465:White People / Q000235:genetics
chemical_list: C574182:COL11A1 protein, human; D024161:Collagen Type XI