{"id":"hum0439","version":1,"url":"https://humandbs.dbcls.jp/research/hum0439/v1","datePublished":"2024-02-27","versions":[{"version":1,"datePublished":"2024-02-27"}],"title":{"ja":"脂質異常症に関わる遺伝子と病態との関連の検討","en":"Investigation of the relationship between the genes involved in dyslipidemia and the pathogenesis of the disease"},"summary":{"aims":{"ja":"家族性高コレステロール血症（Familial Hypercholesterolemia: FH）は、low density lipoprotein（LDL）受容体関連遺伝子の変異による遺伝性疾患である。遺伝的背景のない高コレステロール血症に比べてFHでは、LDL-C増加の程度が著しく、動脈硬化の進展が早く、また、それに伴う臓器障害の程度も強いため、動脈硬化性疾患の予防を目的としたLDL-C低下治療が必要である。FHヘテロ接合体患者は500人に1人以上、ホモ接合体患者は100万人に1人以上の頻度で認められ、わが国におけるFH患者総数は、25万人以上と推定される。様々な遺伝性代謝疾患の中でもFHは最も頻度が高く、日常診療において高頻度に遭遇する疾患といえるが、FHヘテロ接合体患者が正しく診断されているわけではない。そのため、FHの診断に役立てる目的で遺伝子検査を行うこととした。","en":"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, 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 are found 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 one of the most frequent and frequently encountered diseases 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."},"methods":{"ja":"LDLR遺伝子およびPCSK9遺伝子について、CRISPR-Cas法を用いてゲノムを切り出し、ナノポアシーケンサによる解列決定を行う","en":"For the LDLR and PCSK9 genes, the genome is cut out using the CRISPR-Cas method, and only that portion is analyzed using a nanopore sequencer."},"targets":{"ja":"FH患者5名、対照1名","en":"Genome sequence information from nanopore sequencing of LDLR and PCSK9 genes in 5 FH patients and 1 control"},"url":{"ja":[{"url":"https://cardio.kuhp.kyoto-u.ac.jp/res-group/gr_metabolic/","text":"https://cardio.kuhp.kyoto-u.ac.jp/res-group/gr_metabolic/"}],"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"家族性高コレステロール血症：5症例\n対照者：1名\n（日本人）","en":"Familial hypercholesterolemia: 5 cases\n1 Control\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"家族性高コレステロール血症（Familial Hypercholesterolemia: FH）5症例、対照1名の末梢血から抽出したDNAを用いたLDLR遺伝子およびPCSK9遺伝子のTarget Capture Sequencing解析結果をfastqファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 5 familial hypercholesterolemia (FH) patients and 1 control were used for the target capture sequencing analysis for LDLR and PCSK9 genes. Fastq files are provided."},"dataProviders":[{"name":{"ja":"尾野 亘","en":"Koh Ono"},"organization":{"name":{"ja":"京都大学大学院医学研究科 循環器内科学","en":"Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine"}}}],"researchProjects":[{"name":{"ja":"脂質異常症に関わる遺伝子と病態との関連の検討","en":"Investigation of the relationship between the genes involved in dyslipidemia and the pathogenesis of the disease"},"url":{"ja":[{"url":"https://cardio.kuhp.kyoto-u.ac.jp/res-group/gr_metabolic/","text":"https://cardio.kuhp.kyoto-u.ac.jp/res-group/gr_metabolic/"}],"en":null}}],"grants":[{"title":{"ja":"長鎖非コードRNAの循環器疾患における機能解明と疾患治療への応用","en":"Elucidation of the functions of long non-coding RNA in cardiovascular diseases"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["JP20H03675"]}],"relatedPublications":[{"title":"CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing.","doi":"https://doi.org/10.1371/journal.pone.0297231","datasets":["DRA017996"]}],"datasets":["DRA017996"],"controlledAccessUsers":[]}