Scientific Reports – Genetic Risk Factors For Colorectal Cancer In Multiethnic Indonesians
On 11 May 2021, Scientific Reports published the result of the first Genome-Wide Association Study (GWAS) on colorectal cancer (CRC) in Indonesia (DOI: 10.1038/s41598-021-88805-4). CRC is a common cancer in Indonesia, currently sitting in the top four incidences for both males and females. Specifically, the lifetime cumulative risk of developing CRC for Indonesian males is the first among all cancers. However, it has been understudied in Indonesia which is considered as a country with resource-constrained settings. In this study – led by Irawan Yusuf, Bens Pardamean, and James Baurley, we have successfully conducted a GWAS focused on evaluation and preliminary discovery of CRC genetics risk factors in Indonesians.
Scientific Reports is one of the most prestigious journals published by Nature publishing group based in the UK, which is currently ranked number 28th in the top publication venue list released by Google Scholar. It currently has an impact factor of 3.998, h-index of 213, and 1.24 SJR, which put it as a solid Q1 journal since its coverage in 2011 in the Scimago Journal Ranking. The papers in this journal are also indexed in reputable literature databases such as PubMed and Scopus.
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In this study, we administered detailed questionnaires and collected blood samples from 162 CRC cases throughout Makassar, Indonesia. All these patients were recruited from seven hospitals in Makassar between 2014 and 2016. We also established a control set of 193 healthy individuals, with matched frequency by age, sex, and ethnicity. Eventually, the GWAS was performed on 84 cases and 89 controls passing quality control. Questionnaires and medical records were recorded into study data collection forms and entered into a study database managed by Bioinformatics & Data Science Research Center (BDSRC), Bina Nusantara University.
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A blood sample was collected from the basilic/cephalic vein on all participants for genotyping. These blood samples were stored in Hasanuddin University Laboratory at −20oC. The DNA samples were extracted in Mochtar Riady Institute for Nanotechnology (MRIN) laboratory. Our comprehensive data has been included as part of the global data from the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) in the USA. This contribution hopefully can give a greater impact on scientific discoveries in CRC.
This study was initiated in 2014 along with the establishment of the Indonesian Colorectal Cancer Consortium (IC3) by Hasanuddin University, BDSRC, BioRealm, and University of Southern California. The bioinformatics analysis of this study was performed by the collaboration of BDSRC (bioinformatics core), BioRealm (data science), and Clemson University (mathematical science). The DNA samples were collected by Hasanuddin University Medical School and extracted by MRIN. The extracted DNA samples were sent to RUCDR Infinite Biologics for genotyping (Piscataway, NJ, USA) under Material Transfer Agreement (MTA) approved by the Indonesian Health Ministry (registration number: LB.02.01/I/12749/2016). This study was funded by the BINUS University Board of Management, Hasanuddin University Medical School, BioRealm, and MRIN. Special thanks for the support from Bernard Gunawan, Stephen Wahyudi Santoso, George Wijaya Hadipoespito, Michael Wijaya Hadipoespito, Harjanto Prabowo, and the late Bahtiar Saleh Abbas from Bina Nusantara University.
With this work, BDSRC has established itself as the premier bioinformatics research center in Indonesia with global recognition. This study also provided a solid cornerstone for the establishment of Indonesia biobank data. In regards to this concern, Bens Pardamean, the Head of BDSRC, said “From this study, we see a worrying trend of early onset of colorectal cancer in Indonesia. This trend suggested that Indonesia needs to develop its national biobank for early screening of colorectal cancer risk factors from patients. This monumental work is our contribution toward this goal. In the near future, we are going to conduct a more comprehensive analysis of genetic and environmental interaction that associates with CRC cases in Indonesia, which requires us to expand the number of samples in our data. Fortunately, this expansion can be more affordable in the future by our collaboration with Genetics Indonesia lab, which eliminates the need for DNA sample genotyping to be processed aboard. We also need continuous support from the Indonesian government and hospitals to enrich our data for a better representation of the Indonesian ethnicities diversity.”
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