单位:[1]Department of Neurosurgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430000, China外科学系神经外科华中科技大学同济医学院附属同济医院[2]Department of Nuclear Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430000, China核医学科华中科技大学同济医学院附属同济医院[3]Hepatic Surgery Center and Hubei Key Laboratory of Hepato-Biliary-Pancreatic Diseases, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430000, China外科学系肝脏外科华中科技大学同济医学院附属同济医院[4]Department of Neurosurgery, General Hospital of Central Theatre Command of People’s Liberation Army, Wuhan, Hubei, 430000, China
Altered promoter activity has been generally observed in diverse biological processes, including tumorigenesis. Accumulating evidence suggests that employing a quantitative trait locus mapping approach is effective in comprehending the genetic basis of promoter activity. By utilizing genot ype dat a from The Cancer Genome Atlas and calculating corresponding promoter activity v alues using proA ctiv, w e sy stematically e v aluated the impact of genetic variants on promoter activity and identified > 1.0 million promoter activity quantitative trait loci (paQTLs) as both cis-and trans-acting. A dditionally, le v eraging data from the genome-wide association study (GWAS) cat alog , w e disco v ered > 1.3 million paQTLs that o v erlap with kno wn GWAS linkage disequilibrium regions. R emarkably, similar to 9324 paQTLs e xhibited significant associations with patient prognosis. Moreo v er, in v estigating the impact of promoter activity on > 10 0 0 imputed antitumor therapy responses among pan-cancer patients re v ealed > 43 0 0 0 million significant associations. Furthermore, similar to 25 0 0 0 significant associations were identified bet ween promoter activit y and immune cell abundance. Finally, a user-friendly dat a port al, Pancan-paQTL ( https://www.hbpding .com/P ancanP aQTL/), w as constructed f or users to browse, search and download data of interest. Pancan-paQTL serves as a comprehensive multidimensional database, enabling functional and clinical in v estigations into genetic v ariants associated with promoter activity, drug responses and immune infiltration across multiple cancer types. [GRAPHICS]
基金:
Author contributions: Conception and design: R.L., D.W. and G.L. Development of methodology: D.W. and G.L. Acquisition of data (provided animals, acquired and managed patients, provided facilities, etc.): R.L., D.W., J.L. and G.L. Analysis and interpretati
第一作者单位:[1]Department of Neurosurgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430000, China
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推荐引用方式(GB/T 7714):
Li Ran,Wan Dongyi,Liang Junnan,et al.Pan-cancer analysis of promoter activity quantitative trait loci[J].NAR CANCER.2023,5(4):doi:10.1093/narcan/zcad053.