Evidence map›Paper›PMID 30814063›Full record

ArticleBlood2019

A gene-based recessive diplotype exome scan discovers

Shicheng Guo, Shuai Jiang, Narendranath Epperla, Yanyun Ma, Mehdi Maadooliat, Zhan Ye, Brent Olson, Minghua Wang, Terrie Kitchner, Jeffrey Joyce and 10 more

Open access · bronzeAbstract read
In one paragraph

Article in Blood, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

13 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. FGF-based drug discovery: advances and challenges.Nature reviews. Drug discovery · 2025
    Review
  5. Review
  6. Review
  7. International journal of molecular sciences · 2021
    Article
  8. Article
  9. Article
  10. FGF/FGFR signaling in health and disease.Signal transduction and targeted therapy · 2020
    Review
  11. [Progress on epigenetic regulation of iron homeostasis].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2020
    Review
  12. Review
  13. Inherited iron overload disorders.Translational gastroenterology and hepatology · 2020
    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

20 authors at 8 institutions in 2 countries.

Shicheng GuoCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI.ORCID 0000-0002-7047-9972
Shuai JiangState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and.ORCID 0000-0002-4203-5557
Narendranath EpperlaDivision of Hematology, The Ohio State University, Columbus, OH.ORCID 0000-0002-8216-3457
Yanyun MaState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and.ORCID 0000-0001-9541-1854
Mehdi MaadooliatCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI.ORCID 0000-0002-5408-2676
Zhan YeBiomedical Informatics Research Center, Marshfield Clinic Research Institute, Marshfield, WI.ORCID 0000-0002-0426-0382
Brent OlsonBiomedical Informatics Research Center, Marshfield Clinic Research Institute, Marshfield, WI.
Minghua WangDepartment of Biochemistry and Molecular Biology, Medical College, Soochow University, Suzhou, China.ORCID 0000-0003-3996-9874
Terrie KitchnerCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI.
Jeffrey JoyceCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI.
Peng AnBeijing Advanced Innovation Center for Food Nutrition and Human Health, China Agricultural University, Beijing, China.
Fudi WangNutrition Discovery Innovation Center, School of Public Health, Zhejiang University School of Medicine, Hangzhou, China.
Robert StrennBiomedical Informatics Research Center, Marshfield Clinic Research Institute, Marshfield, WI.
Joseph J MazzaClinical Research Center and.
Jennifer K MeeceIntegrated Research and Development Laboratory, Marshfield Clinic Research Institute, Marshfield, WI.
Wenyu WuDepartment of Dermatology, Huashan Hospital, Fudan University, Shanghai, China.
Li JinState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and.
Judith A SmithDepartment of Pediatrics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI.
Jiucun WangState Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and.ORCID 0000-0003-2765-0620
Steven J SchrodiCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI.ORCID 0000-0003-2304-8528
Marshfield Clinic · USFudan University · CNChina Agricultural University · CNMarquette University · USSoochow University · CNThe Ohio State University · USUniversity of Wisconsin–Madison · USZhejiang University · CN

Funding

University of Wisconsin Institute for Clinical and Translational ResearchUL1TR002373 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI ELIZABETH S BURNSIDE, Allan R. Brasier · 2017 to 2026
$75.9M
Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
INSTITUTIONAL CTSA (UW-MADISON): CLINICAL TRIALSUL1RR025011 · NCRR · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2007 to 2011
$29.5M
NCATS NIH HHS UL1 TR000427NCATS NIH HHS UL1 TR002373NCRR NIH HHS UL1 RR025011
6 · The paper itself

Abstract

Standard analyses applied to genome-wide association data are well designed to detect additive effects of moderate strength. However, the power for standard genome-wide association study (GWAS) analyses to identify effects from recessive diplotypes is not typically high. We proposed and conducted a gene-based compound heterozygosity test to reveal additional genes underlying complex diseases. With this approach applied to iron overload, a strong association signal was identified between the fibroblast growth factor-encoding gene,

Indexed as

Gene Expression RegulationGenetic Predisposition to DiseaseAmino Acid SequenceCase-Control StudiesDiploidyExomeFemaleFibroblast Growth Factor 6Follow-Up StudiesGenes, RecessiveGenome-Wide Association StudyHemochromatosisHepcidinsHumansIronIron OverloadFGF6 protein, humanFibroblast Growth Factor 6HAMP protein, humanHepcidinsIron

Identifiers

PMID30814063
PMCPMC6484389
OpenAlexW2916596987

What Socratic holds

Textmetadata
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.