Evidence map›Paper›PMID 39910069›Full record

ArticleNature communications2025

Massively parallel variant-to-function mapping determines functional regulatory variants of non-small cell lung cancer.

Congcong Chen, Yang Li, Yayun Gu, Qiqi Zhai, Songwei Guo, Jun Xiang, Yuan Xie, Mingxing An, Chenmeijie Li, Na Qin and 19 more

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

29 authors.

Congcong Chen *Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.ORCID http://orcid.org/0009-0008-0557-865X
Yang Li *Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Yayun Gu *State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Qiqi Zhai *Department of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, 211116, Jiangsu, China.
Songwei GuoDepartment of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, 211116, Jiangsu, China.
Jun XiangDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Yuan XieDepartment of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, 211116, Jiangsu, China.
Mingxing AnDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Chenmeijie LiState Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Na QinDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Yanan ShiDepartment of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, 211116, Jiangsu, China.
Liu YangDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Jun ZhouDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Xianfeng XuDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Ziye XuDepartment of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, 211116, Jiangsu, China.
Kai WangDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Meng ZhuDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Yue JiangDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Yuanlin HeDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.
Jing XuDepartment of Thoracic Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, China.
Rong YinJiangsu Key Laboratory of Molecular and Translational Cancer Research, Department of Thoracic Surgery Jiangsu Cancer Hospital, Jiangsu Institute of Cancer Research, Nanjing Medical University Affiliated Cancer Hospital, Nanjing, 210029, Jiangsu, China.
Liang ChenDepartment of Thoracic Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, China.
Lin XuJiangsu Key Laboratory of Molecular and Translational Cancer Research, Department of Thoracic Surgery Jiangsu Cancer Hospital, Jiangsu Institute of Cancer Research, Nanjing Medical University Affiliated Cancer Hospital, Nanjing, 210029, Jiangsu, China.
Juncheng DaiDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.ORCID http://orcid.org/0000-0002-3909-5671
Guangfu JinDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.ORCID http://orcid.org/0000-0003-0249-5337
Zhibin HuDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China.ORCID http://orcid.org/0000-0002-8277-5234
Cheng WangDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China. cheng_wang29@njmu.edu.cn.ORCID http://orcid.org/0000-0002-8193-9276
Hongxia MaDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China. hongxiama@njmu.edu.cn.ORCID http://orcid.org/0000-0002-9821-6955
Hongbing ShenDepartment of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, Jiangsu, China. hbshen@njmu.edu.cn.ORCID http://orcid.org/0000-0002-2581-5906

Funding

National Natural Science Foundation of China (National Science Foundation of China) 82072579National Natural Science Foundation of China (National Science Foundation of China) 82103926National Natural Science Foundation of China (National Science Foundation of China) 82322032National Natural Science Foundation of China (National Science Foundation of China) 82388102
6 · The paper itself

Abstract

Genome-wide association studies have identified thousands of genetic variants associated with non-small cell lung cancer (NSCLC), however, it is still challenging to determine the causal variants and to improve disease risk prediction. Here, we applied massively parallel reporter assays to perform NSCLC variant-to-function mapping at scale. A total of 1249 candidate variants were evaluated, and 30 potential causal variants within 12 loci were identified. Accordingly, we proposed three genetic architectures underlying NSCLC susceptibility: multiple causal variants in a single haplotype block (e.g. 4q22.1), multiple causal variants in multiple haplotype blocks (e.g. 5p15.33), and a single causal variant (e.g. 20q11.23). We developed a modified polygenic risk score using the potential causal variants from Chinese populations, improving the performance of risk prediction in 450,821 Europeans from the UK Biobank. Our findings not only augment the understanding of the genetic architecture underlying NSCLC susceptibility but also provide strategy to advance NSCLC risk stratification.

Indexed as

Carcinoma, Non-Small-Cell LungLung NeoplasmsAsian PeopleFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHaplotypesHumansMaleMultifactorial InheritancePolymorphism, Single NucleotideWhiteWhite People

Identifiers

PMID39910069
PMCPMC11799298

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.