Evidence map›Paper›PMID 30226566›Full record

ArticleInternational journal of molecular medicine2018

Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.

Yoshiji Yamada, Kimihiko Kato, Mitsutoshi Oguri, Hideki Horibe, Tetsuo Fujimaki, Yoshiki Yasukochi, Ichiro Takeuchi, Jun Sakuma

Open access · hybridAbstract read
In one paragraph

Article in International journal of molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 11% 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

35 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.

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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

8 authors at 3 institutions in 1 country.

Yoshiji YamadaDepartment of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu, Mie 514‑8507, Japan.
Kimihiko KatoDepartment of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu, Mie 514‑8507, Japan.
Mitsutoshi OguriDepartment of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu, Mie 514‑8507, Japan.
Hideki HoribeDepartment of Cardiovascular Medicine, Gifu Prefectural Tajimi Hospital, Tajimi, Gifu 507‑8522, Japan.
Tetsuo FujimakiDepartment of Cardiovascular Medicine, Northern Mie Medical Center Inabe General Hospital, Inabe, Mie 511‑0428, Japan.
Yoshiki YasukochiDepartment of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu, Mie 514‑8507, Japan.
Ichiro TakeuchiCREST, Japan Science and Technology Agency, Kawaguchi, Saitama 332‑0012, Japan.
Jun SakumaCREST, Japan Science and Technology Agency, Kawaguchi, Saitama 332‑0012, Japan.
Mie University · JPJapan Science and Technology Agency · JPGifu Prefectural Tajimi Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Early‑onset cardiovascular and renal diseases have a strong genetic component. In the present study, exome‑wide association studies (EWASs) were performed to identify genetic variants that confer susceptibility to early‑onset myocardial infarction (MI), hypertension, or chronic kidney disease (CKD) in Japanese individuals. A total of 8,093 individuals aged ≤65 years was enrolled in the study. The EWASs for MI, hypertension, and CKD were performed in 6,926 subjects (1,152 cases, 5,774 controls), 8,080 subjects (3,444 cases, 4,636 controls), and 2,556 subjects (1,051 cases, 1,505 controls), respectively. Genotyping of single nucleotide polymorphisms (SNPs) was performed with Illumina Human Exome‑12 DNA Analysis BeadChip or Infinium Exome‑24 BeadChip arrays. The associations of allele frequencies for 31,245, 31,276, or 31,514 SNPs that passed quality control to MI, hypertension, and CKD, respectively, was examined with Fisher's exact test. Bonferroni's correction for statistical significance of association was applied to compensate for multiple comparisons of genotypes with MI, hypertension, or CKD. The EWASs of allele frequencies revealed that 25, 11, and 11 SNPs were significantly associated with MI (P<1.60x10‑6), hypertension (P<1.60x10‑6), or CKD (P<1.59x10‑6), respectively. Multivariable logistic regression analysis with adjustment for covariates showed that all 25, 11, and 11 SNPs were significantly associated with MI (P<0.0005), hypertension (P<0.0011), or CKD (P<0.0011), respectively. On examination of the results from previous genome‑wide association studies and linkage disequilibrium of the identified SNPs, 11 loci (TMOD4, COL6A3, ADGRL3‑CXCL8‑MARCH1, OR52E4, TCHP‑GIT2, CCDC63, 12q24.1, OAS3, PLCB2‑VPS33B, GOSR2, ZNF77), six loci (MOB3C‑TMOD4, COL6A3, COL6A5, CXCL8‑MARCH1, NFKBIL1‑6p21.3‑NCR3, PLCB2‑VPS33B), and seven loci (MOB3C‑TMOD4, COL6A3, COL6A5, ADGRL3‑CXCL8‑MARCH1, MUC17, PLCB2‑VPS33B, ZNF77) were identified as novel loci significantly associated with MI, hypertension, and CKD, respectively. Furthermore, six genes (TMOD4, COL6A3, CXCL8, MARCH1, PLCB2, VPS33B) were significantly associated with MI, hypertension and CKD; two genes (ADGRL3, ZNF77) with MI and CKD; and two genes (COL6A5, MOB3C) with hypertension and CKD. Therefore, 13 novel loci (MOB3C‑TMOD4, COL6A3, ADGRL3‑CXCL8‑MARCH1, OR52E4, TCHP‑GIT2, CCDC63, 12q24.1, OAS3, PLCB2‑VPS33B, ZNF77, COL6A5, NFKBIL1‑NCR3, MUC17) were identified that confer susceptibility to early‑onset MI, hypertension, or CKD. The determination of genotypes for the SNPs at these loci may provide informative for assessment of the genetic risk for MI, hypertension, or CKD.

Indexed as

Polymorphism, Single NucleotideAdultAgedAsian PeopleExome SequencingFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansHypertensionJapanLinkage DisequilibriumMaleMiddle Aged

Identifiers

PMID30226566
PMCPMC6192728
OpenAlexW2892260291

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.