Data analysis of 1 million Koreans … Discovery of co-stimulatory gene ‘Dementia and heart disease’ |

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[헤럴드경제=구본혁 기자] The Korea Institute of Science and Information Technology (KISTI), together with Gachon University, announced on the 20th that it had derived individual genetic mutations related to the co-morbidity of heart disease and dementia through the medical data of one million Koreans and next-generation genome sequencing technology. .

A comorbidity-associated genetic mutation refers to a genetic mutation associated with two or more diseases, and is a representative example of a pleiotropic phenomenon in which a single genetic mutation serves diverse functions. Research requires the analysis of various data, and the risk of complex disease-related diseases can be explored through these studies.

The joint research team conducted a large-scale biomedical-IT convergence study based on analysis and revealed that the ‘ADIPOQ’ gene is simultaneously involved in the onset of heart disease and Alzheimer’s dementia.

The research team conducted research on the diagnosis records of one million people from the Korea Health Insurance Review and Assessment Service, high-performance computer genome analysis technology, 200,000-scale genetic variation data collected from UK Biobank in the UK, in-depth. brain/heart MRI image analysis technology based on learning, and tracking technology. The results of cognitive/behavioral function analysis and cell test validation were used.

This research has been carried out for several years as a multinational multidisciplinary convergence research. KISTI conducted joint research with the University of California, San Francisco, United States of America, Ben Gurion University, Gachon University, KAIST, and the Korea Centers for Disease Control and Prevention based on its accumulated expertise in large-scale analysis in the biomedical field .

An overview of research and a ‘disease trajectory tracing’ algorithm for identifying genetic mutations associated with dementia and cardiovascular disease.[KISTI 제공]

In 2019, KISTI developed a ‘disease trajectory tracking’ technique through joint research with UCSF in the US, which rapidly and effectively analyzed the US medical data of 10 million people, and the comorbid disease patterns of schizophrenia patients identified in recently

Hyo-Jeong Baek, Ph.D., KISTI, said, “This research is the result of convergent research between medical and bioinformatics.

The results of this study were published on September 20 in the international academic journal ‘Translational Psychiatry’ in the field of brain diseases.

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