scholarly journals Genetic risk factors for colorectal cancer in multiethnic Indonesians

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.

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.


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

2014 ◽  
Vol 35 (11) ◽  
pp. 2512-2519 ◽  
Author(s):  
Stephanie L. Schmit ◽  
Fredrick R. Schumacher ◽  
Christopher K. Edlund ◽  
David V. Conti ◽  
Leon Raskin ◽  
...  

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 ◽  
...  

2021 ◽  
Author(s):  
Xuemin Wang ◽  
Pik Fang Kho ◽  
Dhanya Ramachandran ◽  
Cemsel Bafligil ◽  
Frederic Amant ◽  
...  

We have performed genetic correlation and Mendelian randomization analyses using publicly available genome-wide association study (GWAS) data to identify endometrial cancer risk factors. These and previously established risk factors of endometrial cancer were then included in a multi-trait Bayesian GWAS analysis to detect endometrial cancer susceptibility variants, identifying three novel loci (7q22.1, 8q24.3 and 16q12.2); two of which were replicated in an independent endometrial cancer GWAS dataset. These loci are hypothesized to affect endometrial cancer risk through altered sex-hormone levels or through effects on obesity. Consistent with this hypothesis, several genes with established roles in these pathways (CYP11B1, CYP3A7, IRX3 and IRX5) were prioritized as candidate endometrial cancer risk genes by interrogation of quantitative trait loci data and chromatin capture assays in endometrial cell lines. The findings of this study identify additional opportunities for hormone treatment and further support weight loss to reduce the risk of developing endometrial cancer.


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