Evidence map›Paper›PMID 27888582›Full record

ArticleJournal of diabetes investigation2017

Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes.

Misako Okuno, Yoshihito Kasahara, Masafumi Onodera, Noriyuki Takubo, Michiko Okajima, Shigeru Suga, Nobuyuki Watanabe, Junichi Suzuki, Tadayuki Ayabe, Tatsuhiko Urakami and 12 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of diabetes investigation, 2017. 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
0.6field-weighted citation impact, top 21% 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, 8 citations in OpenAlex.

  1. Article
  2. Cell reports. Medicine · 2021
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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

22 authors at 6 institutions in 2 countries.

Misako OkunoDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Yoshihito KasaharaThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Masafumi OnoderaDepartment of Human Genetics, National Research Institute for Child Health and Development, Tokyo, Japan.
Noriyuki TakuboThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Michiko OkajimaThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Shigeru SugaThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Nobuyuki WatanabeDepartment of Human Genetics, National Research Institute for Child Health and Development, Tokyo, Japan.
Junichi SuzukiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Tadayuki AyabeDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Tatsuhiko UrakamiDepartment of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
Tomoyuki KawamuraThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Nobuyuki KikuchiThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Ichiro YokotaThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Toru KikuchiThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Shin AmemiyaThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
Kazuhiko NakabayashiDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Keiko HayashiDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kenichiro HataDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Yoichi MatsubaraDepartment of Institute Director, National Research Institute for Child Health and Development, Tokyo, Japan.
Tsutomu OgataDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Maki FukamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Shigetaka SugiharaThe Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, Kanazawa, Japan.
National Center For Child Health and Development · JPDiabetes Australia · AUJapanese Society for Dialysis Therapy · JPKanazawa University · JPJuntendo University · JPSaitama Medical University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

AIMS/

introductionAlthough genome-wide association studies have identified more than 50 susceptibility genes for type 1 diabetes, low-frequency risk variants could remain unrecognized. The present study aimed to identify novel type 1 diabetes susceptibility genes by newly established methods. MATERIALS AND

methodsWe carried out whole-exome sequencing and genome-wide copy-number analysis for a Japanese family consisting of two patients with type 1 diabetes and three unaffected relatives. Further mutation screening was carried out for 127 sporadic cases. The functional consequences of identified substitutions were evaluated by in silico analyses and fluorescence-activated cell sorting of blood samples.

resultsWhole-exome sequencing and genome-wide copy-number analysis of familial cases showed co-segregation of the p.V863L substitution in CD101, the human homolog of an autoimmune diabetes gene in the non-obese diabetic mouse, with type 1 diabetes. Mutation screening of CD101 in 127 sporadic cases detected the p.V678L and p.T944R substitutions in two patients. The p.V863L, p.V678L and p.T944R substitutions were absent or extremely rare in the general population, and were assessed as 'probably/possibly damaging' by in silico analyses. CD101 expression on monocytes, granulocytes and myeloid dendritic cells of mutation-positive patients was weaker than that of control individuals.

conclusionsThese results raise the possibility that CD101 is a susceptibility gene for type 1 diabetes.

Indexed as

Genetic Predisposition to DiseaseMutationAdolescentAnimalsAntigens, CDAsian PeopleChildChild, PreschoolDiabetes Mellitus, Type 1Exome SequencingFemaleHumansMaleMembrane GlycoproteinsMicePolymorphism, Single NucleotideAntigens, CDCD101 antigen, humanMembrane GlycoproteinsDisease susceptibilityExomeMutation

Identifiers

PMID27888582
PMCPMC5415474
OpenAlexW2533569153

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.