Genetic risk factors for colorectal cancer in multiethnic Indonesians

Yusuf I., Pardamean B., Baurley J.W., Budiarto A., Miskad U.A., Lusikooy R.E., Arsyad A., Irwan A., Mathew G., Suriapranata I., Kusuma R., Kacamarga M.F., Cenggoro T.W., McMahan C., Joyner C., Pardamean C.I.

Faculty Medicine, Hasanuddin University, Makassar, South Sulawesi, Indonesia; Bioinformatics & Data Science Research Center, Bina Nusantara University, Jakarta, DKI Jakarta, Indonesia; Mochtar Riady Institute for Nanotechnology, Pelita Harapan University, Tangerang, Banten, Indonesia; Computer Science Department, BINUS Graduate Program-Master of Computer Science Program, Bina Nusantara University, Jakarta, DKI Jakarta, Indonesia; Computer Science Department, School of Computer Science, Bina Nusantara University, Jakarta, DKI Jakarta, Indonesia; School of Mathematical and Statistical Sciences, Clemson University, Clemson, SC, United States


Colorectal 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. © 2021, The Author(s).


Scientific Reports

Publisher: Nature Research

Volume 11, Issue 1, Art No 9988, Page – , Page Count

Journal Link:

doi: 10.1038/s41598-021-88805-4

Issn: 20452322

Type: All Open Access, Gold, Green


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