SynthesisHuman molecular genetics2012
Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies.
Synthesis in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
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Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.PLoS genetics · 2021Pooled it
- Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.Nature genetics · 2013Pooled it
- Clinical implications and molecular mechanism of long noncoding RNA LINC00518 and protein-coding genes in skin cutaneous melanoma by genome‑wide investigation.Archives of dermatological research · 2025Article
- Caspase-8 in inflammatory diseases: a potential therapeutic target.Cellular & molecular biology letters · 2024Review
- Genetic markers of cardiac autonomic neuropathy in the Kazakh population.BMC cardiovascular disorders · 2024Article
- Research on esophageal cancer: With personal perspectives from studies in China and Kenya.International journal of cancer · 2021Review
- Global burden and epidemiology of Barrett oesophagus and oesophageal cancer.Nature reviews. Gastroenterology & hepatology · 2021Review
- Oncogenic SNORD12B activates the AKT-mTOR-4EBP1 signaling in esophageal squamous cell carcinoma via nucleus partitioning of PP-1α.Oncogene · 2021Article
- A multinational review: Oesophageal cancer in low to middle-income countries.Oncology letters · 2020Review
- Identification of Leukocyte telomere length-related genetic variants contributing to predisposition of Esophageal Squamous Cell Carcinoma.Journal of Cancer · 2020Article
- What have we learned from Linxian esophageal cancer etiological studies?Thoracic cancer · 2019Review
- Esophageal cancer genetics in South Africa.Clinical and experimental gastroenterology · 2019Review
- Identification of 12 genetic loci associated with human healthspan.Communications biology · 2019Article
- Gastric cancer may share genetic predisposition with esophageal squamous cell carcinoma in Chinese populations.Journal of human genetics · 2018Article
- Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.Nature communications · 2018Article
- CCGD-ESCC: A Comprehensive Database for Genetic Variants Associated with Esophageal Squamous Cell Carcinoma in Chinese Population.Genomics, proteomics & bioinformatics · 2018Article
- Genome-Wide Association Studies of Cancer in Diverse Populations.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Review
- Epidemiology of Esophageal Squamous Cell Carcinoma.Gastroenterology · 2018Review
- GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer.Scientific reports · 2017Article
- Genetic variants at 9p21.3 are associated with risk of esophageal squamous cell carcinoma in a Chinese population.Cancer science · 2017Article
Corrections and comments
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Authors and funding
161 authors at 20 institutions in 3 countries.
Funding
Abstract
Genome-wide association studies have identified susceptibility loci for esophageal squamous cell carcinoma (ESCC). We conducted a meta-analysis of all single-nucleotide polymorphisms (SNPs) that showed nominally significant P-values in two previously published genome-wide scans that included a total of 2961 ESCC cases and 3400 controls. The meta-analysis revealed five SNPs at 2q33 with P< 5 × 10(-8), and the strongest signal was rs13016963, with a combined odds ratio (95% confidence interval) of 1.29 (1.19-1.40) and P= 7.63 × 10(-10). An imputation analysis of 4304 SNPs at 2q33 suggested a single association signal, and the strongest imputed SNP associations were similar to those from the genotyped SNPs. We conducted an ancestral recombination graph analysis with 53 SNPs to identify one or more haplotypes that harbor the variants directly responsible for the detected association signal. This showed that the five SNPs exist in a single haplotype along with 45 imputed SNPs in strong linkage disequilibrium, and the strongest candidate was rs10201587, one of the genotyped SNPs. Our meta-analysis found genome-wide significant SNPs at 2q33 that map to the CASP8/ALS2CR12/TRAK2 gene region. Variants in CASP8 have been extensively studied across a spectrum of cancers with mixed results. The locus we identified appears to be distinct from the widely studied rs3834129 and rs1045485 SNPs in CASP8. Future studies of esophageal and other cancers should focus on comprehensive sequencing of this 2q33 locus and functional analysis of rs13016963 and rs10201587 and other strongly correlated variants.
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