scholarly journals Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

2017 ◽  
Vol 142 (3) ◽  
pp. 540-546 ◽  
Author(s):  
Tomas Tanskanen ◽  
Linda van den Berg ◽  
Niko Välimäki ◽  
Mervi Aavikko ◽  
Eivind Ness-Jensen ◽  
...  
2014 ◽  
Vol 35 (11) ◽  
pp. 2512-2519 ◽  
Author(s):  
Stephanie L. Schmit ◽  
Fredrick R. Schumacher ◽  
Christopher K. Edlund ◽  
David V. Conti ◽  
Leon Raskin ◽  
...  

2007 ◽  
Vol 39 (11) ◽  
pp. 1315-1317 ◽  
Author(s):  
Peter Broderick ◽  
◽  
Luis Carvajal-Carmona ◽  
Alan M Pittman ◽  
Emily Webb ◽  
...  

BMC Genomics ◽  
2013 ◽  
Vol 14 (1) ◽  
pp. 55 ◽  
Author(s):  
Ceres Fernandez-Rozadilla ◽  
Jean-Baptiste Cazier ◽  
Ian P Tomlinson ◽  
Luis G Carvajal-Carmona ◽  
Claire Palles ◽  
...  

2019 ◽  
Author(s):  
Irawan Yusuf ◽  
Upik A. Miskad ◽  
Ronald E. Lusikooy ◽  
Arham Arsyad ◽  
Akram Irwan ◽  
...  

AbstractPurposeColorectal cancer is a common cancer in Indonesia, yet it has been understudied. We conduct a genome-wide association study focused on evaluation and discovery of colorectal cancer risk factors in Indonesians.MethodsWe administered detailed questionnaires and collecting blood samples from 162 colorectal cancer cases throughout Makassar, Indonesia. We also established a control set of 193 healthy individuals frequency matched by age, sex, and ethnicity. A genome-wide association analysis was performed on 84 cases and 89 controls passing quality control. We evaluated known colorectal cancer genetic variants using logistic regression and established a genome-wide polygenic risk model using a Bayesian variable selection technique.ResultsWe replicate associations for rs9497673, rs6936461 and rs7758229 on chromosome 6; rs11255841 on chromosome 10; and rs4779584, rs11632715, and rs73376930 on chromosome 15. Polygenic modeling identified 10 SNP associated with colorectal cancer risk.ConclusionsThis work helps characterize the relationship between variants in theSCL22A3,SCG5,GREM1, andSTXBP5-AS1genes and colorectal cancer in a diverse Indonesian population. With further biobanking and international research collaborations, variants specific to colorectal cancer risk in Indonesians will be identified.


Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1275
Author(s):  
Anca Cismaru ◽  
Deborah Rudin ◽  
Luisa Ibañez ◽  
Evangelia Liakoni ◽  
Nicolas Bonadies ◽  
...  

Agranulocytosis is a rare yet severe idiosyncratic adverse drug reaction to metamizole, an analgesic widely used in countries such as Switzerland and Germany. Notably, an underlying mechanism has not yet been fully elucidated and no predictive factors are known to identify at-risk patients. With the aim to identify genetic susceptibility variants to metamizole-induced agranulocytosis (MIA) and neutropenia (MIN), we conducted a retrospective multi-center collaboration including cases and controls from three European populations. Association analyses were performed using genome-wide genotyping data from a Swiss cohort (45 cases, 191 controls) followed by replication in two independent European cohorts (41 cases, 273 controls) and a joint discovery meta-analysis. No genome-wide significant associations (p < 1 × 10−7) were observed in the Swiss cohort or in the joint meta-analysis, and no candidate genes suggesting an immune-mediated mechanism were identified. In the joint meta-analysis of MIA cases across all cohorts, two candidate loci on chromosome 9 were identified, rs55898176 (OR = 4.01, 95%CI: 2.41–6.68, p = 1.01 × 10−7) and rs4427239 (OR = 5.47, 95%CI: 2.81–10.65, p = 5.75 × 10−7), of which the latter is located in the SVEP1 gene previously implicated in hematopoiesis. This first genome-wide association study for MIA identified suggestive associations with biological plausibility that may be used as a stepping-stone for post-GWAS analyses to gain further insight into the mechanism underlying MIA.


2011 ◽  
Vol 131 (2) ◽  
pp. 217-234 ◽  
Author(s):  
Ulrike Peters ◽  
Carolyn M. Hutter ◽  
Li Hsu ◽  
Fredrick R. Schumacher ◽  
David V. Conti ◽  
...  

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Irawan Yusuf ◽  
Bens Pardamean ◽  
James W. Baurley ◽  
Arif Budiarto ◽  
Upik A. Miskad ◽  
...  

AbstractColorectal cancer is a common cancer in Indonesia, yet it has been understudied in this resource-constrained setting. We conducted a genome-wide association study focused on evaluation and preliminary discovery of colorectal cancer risk factors in Indonesians. We administered detailed questionnaires and collecting blood samples from 162 colorectal cancer cases throughout Makassar, Indonesia. We also established a control set of 193 healthy individuals frequency matched by age, sex, and ethnicity. A genome-wide association analysis was performed on 84 cases and 89 controls passing quality control. We evaluated known colorectal cancer genetic variants using logistic regression and established a genome-wide polygenic risk model using a Bayesian variable selection technique. We replicate associations for rs9497673, rs6936461 and rs7758229 on chromosome 6; rs11255841 on chromosome 10; and rs4779584, rs11632715, and rs73376930 on chromosome 15. Polygenic modeling identified 10 SNP associated with colorectal cancer risk. This work helps characterize the relationship between variants in the SCL22A3, SCG5, GREM1, and STXBP5-AS1 genes and colorectal cancer in a diverse Indonesian population. With further biobanking and international research collaborations, variants specific to colorectal cancer risk in Indonesians will be identified.


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