脂肪肝
全基因组关联研究
生物
候选基因
基因
表型
遗传关联
遗传学
疾病
生物信息学
单核苷酸多态性
医学
内科学
基因型
作者
Peter Saliba‐Gustafsson,Johanne Marie Justesen,Amanda Ranta,Disha Sharma,Ewa Bielczyk-Maczyńska,Jiehan Li,Laeya A. Najmi,Maider Apodaka,Patricia Aspichueta,Hanna M. Björck,Per Eriksson,Anders Franco‐Cereceda,Mike Gloudemans,Endrina Mújica,Marcel den Hoed,Themistocles L. Assimes,Thomas Quertermous,Iván Cárcamo-Orive,Chong Y. Park,Joshua W. Knowles
出处
期刊:Cold Spring Harbor Laboratory - medRxiv
日期:2024-02-04
标识
DOI:10.1101/2024.02.03.24302258
摘要
Non-alcoholic fatty liver disease (NAFLD) is the most prevalent chronic liver pathology in western countries, with serious public health consequences. Efforts to identify causal genes for NAFLD have been hampered by the relative paucity of human data from gold-standard magnetic resonance quantification of hepatic fat. To overcome insufficient sample size, genome-wide association studies using NAFLD surrogate phenotypes have been used, but only a small number of loci have been identified to date. In this study, we combined GWAS of NAFLD composite surrogate phenotypes with genetic colocalization studies followed by functional in vitro screens to identify bona fide causal genes for NAFLD.
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