https://scholars.lib.ntu.edu.tw/handle/123456789/621205
標題: | Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation | 作者: | CHIA-TI TSAI Hsieh, Chia-Shan SHENG-NAN CHANG Chuang, Eric Y Ueng, Kwo-Chang Tsai, Chin-Feng Lin, Tsung-Hsien CHO-KAI WU JEN-KUANG LEE LIAN-YU LIN YI-CHIH WANG CHIH-CHIEH YU LING-PING LAI Tseng, Chuen-Den HWANG, JUEY-JEN FU-TIEN CHIANG JIUNN-LEE LIN ERIC YAO-YU CHUANG |
關鍵字: | CALCIUM-CHANNEL; EXPRESSION; REPOLARIZATION; POPULATION; MYOCYTES; HEART; POLYMORPHISMS; ASSOCIATION; PHENOTYPES; CANDIDATE | 公開日期: | 2-二月-2016 | 出版社: | NATURE PUBLISHING GROUP | 卷: | 7 | 期: | 1 | 起(迄)頁: | 10190 | 來源出版物: | Nature communications | 摘要: | Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia. Previous genome-wide association studies had identified single-nucleotide polymorphisms in several genomic regions to be associated with AF. In human genome, copy number variations (CNVs) are known to contribute to disease susceptibility. Using a genome-wide multistage approach to identify AF susceptibility CNVs, we here show a common 4,470-bp diallelic CNV in the first intron of potassium interacting channel 1 gene (KCNIP1) is strongly associated with AF in Taiwanese populations (odds ratio=2.27 for insertion allele; P=6.23 × 10(-24)). KCNIP1 insertion is associated with higher KCNIP1 mRNA expression. KCNIP1-encoded protein potassium interacting channel 1 (KCHIP1) is physically associated with potassium Kv channels and modulates atrial transient outward current in cardiac myocytes. Overexpression of KCNIP1 results in inducible AF in zebrafish. In conclusions, a common CNV in KCNIP1 gene is a genetic predictor of AF risk possibly pointing to a functional pathway. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/621205 | ISSN: | 2041-1723 | DOI: | 10.1038/ncomms10190 |
顯示於: | 醫學系 |
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