scholarly journals Pathway,in silicoand tissue-specific expression quantitative analyses of oesophageal squamous cell carcinoma genome-wide association studies data

2015 ◽  
Vol 45 (1) ◽  
pp. 206-220 ◽  
Author(s):  
Paula L Hyland ◽  
Han Zhang ◽  
Qi Yang ◽  
Howard H Yang ◽  
Nan Hu ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Oesophageal Squamous Cell Carcinoma ◽  
Specific Expression ◽  
Genome Wide ◽  
Quantitative Analyses

Abstract 31: Genome-wide association study of African esophageal squamous cell carcinoma

2021 ◽  
Author(s):  
Wenlong C. Chen ◽  
Jean-Tristan Brandenburg ◽  
Ananyo Choudhury ◽  
Mahtaab Hayat ◽  
Dhriti Sengupta ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Association Study ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide

scholarly journals Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis

2020 ◽  
Vol 79 (11) ◽  
pp. 1438-1445
Author(s):  
Young-Chang Kwon ◽  
Jiwoo Lim ◽  
So-Young Bang ◽  
Eunji Ha ◽  
Mi Yeong Hwang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Genome Wide Association Study ◽  
Association Studies ◽  
Large Fraction ◽  
Genome Wide Association ◽  
Chromatin Interaction ◽  
Genome Wide Association Studies ◽  
Bioinformatics Analyses ◽  
Specific Expression ◽  
Genome Wide

ObjectiveGenome-wide association studies (GWAS) in rheumatoid arthritis (RA) have discovered over 100 RA loci, explaining patient-relevant RA pathogenesis but showing a large fraction of missing heritability. As a continuous effort, we conducted GWAS in a large Korean RA case–control population.MethodsWe newly generated genome-wide variant data in two independent Korean cohorts comprising 4068 RA cases and 36 487 controls, followed by a whole-genome imputation and a meta-analysis of the disease association results in the two cohorts. By integrating publicly available omics data with the GWAS results, a series of bioinformatic analyses were conducted to prioritise the RA-risk genes in RA loci and to dissect biological mechanisms underlying disease associations.ResultsWe identified six new RA-risk loci (SLAMF6, CXCL13, SWAP70, NFKBIA, ZFP36L1 and LINC00158) with pmeta<5×10−8 and consistent disease effect sizes in the two cohorts. A total of 122 genes were prioritised from the 6 novel and 13 replicated RA loci based on physical distance, regulatory variants and chromatin interaction. Bioinformatics analyses highlighted potentially RA-relevant tissues (including immune tissues, lung and small intestine) with tissue-specific expression of RA-associated genes and suggested the immune-related gene sets (such as CD40 pathway, IL-21-mediated pathway and citrullination) and the risk-allele sharing with other diseases.ConclusionThis study identified six new RA-associated loci that contributed to better understanding of the genetic aetiology and biology in RA.

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