scholarly journals A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

2012 ◽  
Vol 21 (24) ◽  
pp. 5373-5384 ◽  
Author(s):  
Afshan Siddiq ◽  
Fergus J. Couch ◽  
Gary K. Chen ◽  
Sara Lindström ◽  
Diana Eccles ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Association Studies ◽  
Meta Analysis ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Susceptibility Loci ◽  
Genome Wide

Identification of three novel susceptibility loci for inflammatory bowel disease in Koreans in an extended genome-wide association study

2021 ◽  
Author(s):  
Seulgi Jung ◽  
Byong Duk Ye ◽  
Ho-Su Lee ◽  
Jiwon Baek ◽  
Gyeonghoon Kim ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Association Studies ◽  
Meta Analysis ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Susceptibility Loci ◽  
Data Set ◽  
Genome Wide ◽  
Inflammatory Bowel

Abstract Background and Aims Genome-wide association studies (GWAS) of inflammatory bowel disease (IBD) in multiple populations have identified over 240 susceptibility loci. We previously performed a largest-to-date Asian-specific IBD GWAS to identify 2 new IBD risk loci and confirm associations with 28 established loci. To identify additional susceptibility loci in Asians, we expanded our previous study design by doubling the case size with an additional data set of 1,726 cases and 378 controls. Methods An inverse-variance fixed-effects meta-analysis was performed between the previous and the new GWAS dataset, comprising a total of 3,195 cases and 4,419 controls, followed by replication in an additional 1,088 cases and 845 controls. Results The meta-analysis of Korean GWAS identified 1 novel locus for ulcerative colitis at rs76227733 on 10q24 (pcombined = 6.56 × 10 -9) and 2 novel loci for Crohn’s disease (CD) at rs2240751 on 19p13 (pcombined = 3.03 × 10 -8) and rs6936629 in on 6q22 (pcombined = 3.63 × 10 -8). Pathway-based analysis of GWAS data using MAGMA showed that MHC and antigenic stimulus-related pathways were more significant in Korean CD, whereas cytokine and transcription factor-related pathways were more significant in European CD. Phenotype variance explained by the polygenic risk scores derived from Korean data explained up to 14 % of variance of CD whereas those derived from European data explained 10%, emphasizing the need for large-scale genetic studies in this population. Conclusions The identification of novel loci not previously associated with IBD suggest the importance of studying the inflammatory bowel disease genetics in diverse populations.

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