Evidence map›Paper›PMID 39119875›Full record

ArticleAdvanced science (Weinheim, Baden-Wurttemberg, Germany)2024

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.

Min-Jun Wang, Yuan-Chen Wang, Emmanuelle Masson, Ya-Hui Wang, Dong Yu, Yang-Yang Qian, Xin-Ying Tang, Shun-Jiang Deng, Liang-Hao Hu, Lei Wang and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Advanced science (Weinheim, Baden-Wurttemberg, Germany), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Review
  6. Article
  7. Review
  8. 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

18 authors.

Min-Jun WangDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Yuan-Chen WangDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Emmanuelle MassonInserm, EFS, UMR 1078, GGB, Univ Brest, Brest, F-29200, France.
Ya-Hui WangDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Dong YuCenter for Translational Medicine, Naval Medical University, Shanghai, 200433, China.
Yang-Yang QianDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Xin-Ying TangDepartment of Prevention and Health Care, Eastern Hepatobiliary Surgery Hospital, Naval Medical University, Shanghai, 200438, China.
Shun-Jiang DengDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Liang-Hao HuDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Lei WangDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Li-Juan WangDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Vinciane ReboursPancreatology and Digestive Oncology Department, Beaujon Hospital, APHP - Clichy, Université Paris Cité, Paris, 92110, France.
David N CooperInstitute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, CF14 4XN, United Kingdom.
Claude FérecInserm, EFS, UMR 1078, GGB, Univ Brest, Brest, F-29200, France.
Zhao-Shen LiDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Jian-Min ChenInserm, EFS, UMR 1078, GGB, Univ Brest, Brest, F-29200, France.
Wen-Bin ZouDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.
Zhuan LiaoDepartment of Gastroenterology, Shanghai Institute of Pancreatic Diseases, Shanghai Key Laboratory of Nautical Medicine and Translation of Drugs and Medical Devices, Changhai Hospital, National Key Laboratory of Immunity and Inflammation, Naval Medical University, Shanghai, 200433, China.ORCID 0000-0001-8506-8159

Funding

Association des Pancréatites Chroniques Héréditaires, FranceAssociation Gaétan Saleün, FranceInstitut National de la Santé et de la Recherche MédicaleNational Natural Science Foundation of China 32070732National Natural Science Foundation of China 81873588National Natural Science Foundation of China 82120108006National Natural Science Foundation of China 82222012Scientific Innovation Program of the Shanghai Municipal Education Committee 201901070007E00052
6 · The paper itself

Abstract

Chronic pancreatitis (CP) is a complex disease with genetic and environmental factors at play. Through trio exome sequencing, a de novo SEC16A frameshift variant in a Chinese teenage CP patient is identified. Subsequent targeted next-generation sequencing of the SEC16A gene in 1,061 Chinese CP patients and 1,196 controls reveals a higher allele frequency of rare nonsynonymous SEC16A variants in patients (4.90% vs 2.93%; odds ratio [OR], 1.71; 95% confidence interval [CI], 1.26-2.33). Similar enrichments are noted in a French cohort (OR, 2.74; 95% CI, 1.67-4.50) and in a biobank meta-analysis (OR, 1.16; 95% CI, 1.04-1.31). Notably, Chinese CP patients with SEC16A variants exhibit a median onset age 5 years earlier than those without (40.0 vs 45.0; p = 0.012). Functional studies using three CRISPR/Cas9-edited HEK293T cell lines show that loss-of-function SEC16A variants disrupt coat protein complex II (COPII) formation, impede secretory protein vesicles trafficking, and induce endoplasmic reticulum (ER) stress due to protein overload. Sec16a

Indexed as

Endoplasmic ReticulumEndoplasmic Reticulum StressPancreatitis, ChronicAdolescentAdultAnimalsChinaDisease Models, AnimalFemaleGenetic Predisposition to DiseaseGolgi ApparatusHEK293 CellsHumansMaleMiceVesicular Transport ProteinsSEC16A protein, humanSec16a protein, mouseVesicular Transport Proteinsdisease predispositionendoplasmic reticulum stresspancreatitisprotein vesicle traffickingSEC16A

Identifiers

PMID39119875
PMCPMC11481239

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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 OpenQuestion graph.