The Human Diseasome Study of Rare Diseases Inpatient in Taiwan

• Main Authors: Yi-Wei Ho, 何奕葳
• Other Authors: Kuang-Chi Chen
• Format: Others
• Language: zh-TW
• Published: 2015
• Online Access: http://ndltd.ncl.edu.tw/handle/59517376320282661095

碩士 === 慈濟大學 === 醫學資訊學系碩士班 === 103 === Rare diseases are very low prevalence diseases. According to “The Rare Disease and Orphan Drug Review Committee", the rare diseases in Taiwan are defined as prevalence rates under one in ten thousands. Most major causes of rare diseases are gene defects, which are due to mutation or heredity. In this study, we analyzed 2002-2008 Taiwan National Health Insurance Research Database (NHIRD) hospitalization claims, a total of 20,603,462 inpatients and 28,742 rare disease inpatients. We constructed rare disease comorbidity disease network (CDN) by the primary diagnosis code and at most four secondary diagnosis codes. In addition, we searched for genetic information of 201 rare diseases from online biomedical databases (OMIM, GHR) and other related diseases of these genes from GeneCards to build genetic disease network (GDN). Furthermore, we extracted subnetwork of primary carnitine deficiency syndrome and Bartter's syndrome from CDN, and analyzed their comorbidities via gene and protein–protein interaction (PPI) points of view. The comorbidities of primary carnitine deficiency are lipid metabolism and heart diseases (hypertensive heart disease, unstable angina pectoris, myocardial infarction, angina, coronary atherosclerosis) which can be verified in gene or PPI networks. The comorbidities of Bartter's syndrome are hypokalemia and alkalosis are also significantly associated with rare diseases in gene and PPI networks. In both subnetworks, we find that essential hypertension (EH) and type II diabetes (T2D) are comorbidity diseases, but the relative risks of EH and T2D with respect to non-rare disease inpatients decrease with age. Although age might be an interference factor, but the risks of EH and T2D for rare disease inpatients are statistically significantly higher than non-rare disease inpatients during the period of childhood and adolescence. Our study analyzed nationwide health data and public biomedical database to discover connectivities between rare diseases and common diseases. It provides fruitful information for rare disease patients and biomedical researchers to further study. Keywords: rare disease, comorbidity disease network, gene disease network, protein-protein interaction network, Bartter's syndrome, primary carnitine deficiency syndrome