Evidence map›Paper›PMID 33433679›Full record

ArticleHuman genetics2021

RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction.

Qian Jiang, Yang Wang, Yang Gao, Hui Wang, Zhen Zhang, Qi Li, Shuhua Xu, Wei Cai, Long Li

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.0field-weighted citation impact, top 25% of its field
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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Is There Any Mosaicism inFrontiers in pediatrics · 2022
    Article
  4. Review
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

9 authors at 4 institutions in 1 country.

Qian Jiang *Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.ORCID http://orcid.org/0000-0001-6023-2290
Yang Wang *Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, Shanghai, 200092, China.
Yang GaoKey Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
Hui WangDepartment of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.
Zhen ZhangDepartment of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, No. 2 Yabao Rd., Chaoyang District, Beijing, 100020, China.
Qi LiDepartment of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, No. 2 Yabao Rd., Chaoyang District, Beijing, 100020, China.
Shuhua XuKey Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
Wei CaiDepartment of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, Shanghai, 200092, China. caiw204@sjtu.edu.cn.
Long LiDepartment of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, No. 2 Yabao Rd., Chaoyang District, Beijing, 100020, China. lilong23@126.com.
Children's Hospital of Capital Institute of Pediatrics · CNCapital Institute of Pediatrics · CNChinese Academy of Sciences · CNShanghai Jiao Tong University · CN

Funding

Key Research Program of Frontier Sciences of the Chinese Academy of Sciences QYZDJ-SSW-SYS009Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition 17DZ2272000Shanghai Municipal Population and Family Planning Commission (CN) 201840028the Chinese Academy of Medical Sciences Initiative for Innovative Medicine CAMS-I2Mthe National Natural Science Foundation of China 31711530221the National Natural Science Foundation of China 31771388the National Natural Science Foundation of China 31961130380the National Natural Science Foundation of China 81630039the National Natural Science Foundation of China 81670469the National Natural Science Foundation of China 81700451the National Natural Science Foundation of China 81771620the National Natural Science Foundation of China 82070532the National Natural Science Foundation of China 91731303the National Science Fund for Distinguished Young Scholars 31525014the Public Welfare Industry Research Special Foundation of China 201402007the Shanghai Municipal Science and Technology Major Project 2017SHZDZX01
6 · The paper itself

Abstract

Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of enteric ganglia along variable lengths of the intestine. Genetic defects play a major role in HSCR pathogenesis with nearly 50% of patients having a structural or regulatory deficiency in the major susceptibility gene RET. However, complete molecular defects remain poorly characterized in most patients. Here, we performed detailed genetic, molecular, and populational investigations of rare null mutations and modifiers at the RET locus. We first verified the pathogenicity of three RET splice site mutants (c.1879 + 1G > A, c.2607 + 5G > A and c.2608-3C > G) at the RNA level. We also identified significantly higher risk allele (genotype) frequencies, and their over-transmission, from unaffected parents to affected offspring of three functionally independent enhancer variants (rs2506030, rs7069590 and rs2435357, with odd ratios (OR) of 2.09, 2.71 and 7.59, respectively, P < 0.001). These three common variants are in significant (P < 4.64 × 10

Indexed as

PenetranceChinaFemaleGenetic Predisposition to DiseaseHirschsprung DiseaseHumansInfantInfant, NewbornIntestinesLinkage DisequilibriumMalePolymorphism, Single NucleotideProtein IsoformsProto-Oncogene Proteins c-retSequence Analysis, DNAProtein IsoformsProto-Oncogene Proteins c-retRET protein, human

Identifiers

PMID33433679
OpenAlexW3119941804

What OpenQuestion holds

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Registered trials

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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.