scholarly journals Estimation of heritability for nine common cancers using data from genome-wide association studies in Chinese population

2016 ◽  
Vol 140 (2) ◽  
pp. 329-336 ◽  
Author(s):  
Juncheng Dai ◽  
Wei Shen ◽  
Wanqing Wen ◽  
Jiang Chang ◽  
Tongmin Wang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Using Data

scholarly journals Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Ana Viñuela ◽  
Arushi Varshney ◽  
Martijn van de Bunt ◽  
Rashmi B. Prasad ◽  
Olof Asplund ◽  
...  
Keyword(s):  
Large Scale ◽  
Association Studies ◽  
Cell Types ◽  
Genome Wide Association ◽  
Regulatory Sequences ◽  
Genome Wide Association Studies ◽  
Risk Variants ◽  
Genome Wide ◽  
Gwas Signal ◽  
Using Data

Abstract Most signals detected by genome-wide association studies map to non-coding sequence and their tissue-specific effects influence transcriptional regulation. However, key tissues and cell-types required for functional inference are absent from large-scale resources. Here we explore the relationship between genetic variants influencing predisposition to type 2 diabetes (T2D) and related glycemic traits, and human pancreatic islet transcription using data from 420 donors. We find: (a) 7741 cis-eQTLs in islets with a replication rate across 44 GTEx tissues between 40% and 73%; (b) marked overlap between islet cis-eQTL signals and active regulatory sequences in islets, with reduced eQTL effect size observed in the stretch enhancers most strongly implicated in GWAS signal location; (c) enrichment of islet cis-eQTL signals with T2D risk variants identified in genome-wide association studies; and (d) colocalization between 47 islet cis-eQTLs and variants influencing T2D or glycemic traits, including DGKB and TCF7L2. Our findings illustrate the advantages of performing functional and regulatory studies in disease relevant tissues.

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