Evidence map›Paper›PMID 15221640›Full record

ArticleJournal of human genetics2004

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.

Junichi Kamimura, Keiko Wakui, Hiroko Kadowaki, Yukio Watanabe, Kazuaki Miyake, Naoki Harada, Michiyo Sakamoto, Akira Kinoshita, Koh-Ichiro Yoshiura, Tohru Ohta and 6 more

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Article in Journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

15 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Article
  5. The inositol pyrophosphate pathway in health and diseases.Biological reviews of the Cambridge Philosophical Society · 2018
    Review
  6. Article
  7. Article
  8. Chemical pyrophosphorylation of functionally diverse peptides.Journal of the American Chemical Society · 2014
    Article
  9. Review
  10. Article
  11. Article
  12. Review
  13. Review
  14. Article
  15. 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

16 authors.

Junichi KamimuraDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Keiko WakuiDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Hiroko KadowakiDepartment of Clinical Bioinformatics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Yukio WatanabeDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Kazuaki MiyakeDivision of Diabetes, Digestive and Kidney Disease, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.
Naoki HaradaDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Michiyo SakamotoDivision of Pediatrics, Yamagata City Hospital Saiseikan, Yamagata, Japan.
Akira KinoshitaDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Koh-Ichiro YoshiuraDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Tohru OhtaCREST, Japan Science and Technology Agency, Kawaguchi, Japan.
Tatsuya KishinoCREST, Japan Science and Technology Agency, Kawaguchi, Japan.
Mutsuo IshikawaDepartment of Obstetrics and Gynecology, Asahikawa Medical College, Asahikawa, Japan.
Masato KasugaDivision of Diabetes, Digestive and Kidney Disease, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.
Yoshimitsu FukushimaCREST, Japan Science and Technology Agency, Kawaguchi, Japan.
Norio NiikawaDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. naomat@yokohama-cu.ac.jp.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal translocation, t(3;9)(p21.31;q33.1). To isolate a candidate gene susceptible to T2DM, we constructed physical maps covering both the 3p and 9q breakpoints of the translocation in the family. Consequently, the inositol hexaphosphate kinase 1 gene ( IHPK1) (OMIM *606991) was found to be disrupted at the 3p21.31 breakpoint. We then carried out sequence analysis for all coding regions of IHPK1 in 405 unrelated T2DM patients in order to validate whether aberrations of the gene are common in T2DM patients, but we failed to detect any pathogenic changes. The disruption of IHPK1 or another predisposing gene affected by position effect of the translocation may explain the T2DM phenotype at least in this family. Alternatively, the IHPK1 disruption in the family is a chance association.

Indexed as

Chromosomes, Human, Pair 3Chromosomes, Human, Pair 9Translocation, GeneticAdolescentChromosomes, Artificial, BacterialCloning, MolecularCosmidsDiabetes Mellitus, Type 2DNA Mutational AnalysisExonsFamily HealthFemaleHumansIn Situ Hybridization, FluorescenceMaleModels, GeneticIP6K1 protein, humanPhosphotransferases (Phosphate Group Acceptor)

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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.