Investigation of the relationship between the genes involved in dyslipidemia and the pathogenesis of the disease.. Homo sapiens

Familial hypercholesterolemia (FH) is an inherited disorder caused by mutations in the low density lipoprotein (LDL) receptor-related gene. FH patients have a significantly increased LDL-C compared to non-genetic hypercholesterolemia, and the progression of atherosclerosis is more rapid and the associated organ damage is more severe. FH heterozygotes are found in more than 1 in 500 people and homozygotes in more than 1 in 1 million people, and the total number of FH patients in Japan is estimated to be more than 250,000. Among various inherited metabolic diseases, FH is the most frequent and frequently encountered disease in daily medical practice, but patients heterozygous for FH are not always correctly diagnosed. Therefore, we decided to perform genetic testing in the diagnosis of FH.The Data Access Committee of the National Bioscience Database Center (NBDC) approved that this personal data was made published according to the NBDC Guidelines for Human Data Sharing (https://humandbs.biosciencedbc.jp/en/guidelines/data-sharing-guidelines) as the NBDC Research ID hum0439 and the application ID J-DS001007-001.