Evidence map›Paper›PMID 24533076›Full record

ArticlePloS one2014

A genetic variant in vitamin B12 metabolic genes that reduces the risk of congenital heart disease in Han Chinese populations.

Jue Wang, Jian-Yuan Zhao, Feng Wang, Qian-Qian Peng, Jia Hou, Shu-Na Sun, Yong-Hao Gui, Wen-Yuan Duan, Bin Qiao, Hong-Yan Wang

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

Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.8field-weighted citation impact, top 27% 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

7 citing papers in PubMed, 12 citations in OpenAlex.

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  7. A missense mutation inOncotarget · 2017
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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

10 authors at 5 institutions in 1 country.

Jue WangThe State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
Jian-Yuan ZhaoThe State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
Feng WangChildren's Hospital Shanghai, Fudan University, Shanghai, China.
Qian-Qian PengCAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
Jia HouChildren's Hospital Shanghai, Fudan University, Shanghai, China.
Shu-Na SunChildren's Hospital Shanghai, Fudan University, Shanghai, China.
Yong-Hao GuiChildren's Hospital Shanghai, Fudan University, Shanghai, China.
Wen-Yuan DuanInstitute of Cardiovascular Disease General Hospital of Jinan Military Region, Jinan, China.
Bin QiaoInstitute of Cardiovascular Disease General Hospital of Jinan Military Region, Jinan, China.
Hong-Yan WangThe State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China ; Children's Hospital Shanghai, Fudan University, Shanghai, China ; The Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Children's Hospital of Fudan University · CNJinan Military General Hospital · CNFudan University · CNShanghai Institutes for Biological Sciences · CNState Key Laboratory of Genetic Engineering

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenome-wide association studies on components of the one-carbon metabolic pathway revealed that human vitamin B12 levels could be significantly influenced by variations in the fucosyltransferase 2 (FUT2), cubilin (CUBN), and transcobalamin-I (TCN1) genes. An altered vitamin B12 level is an important factor that disturbs the homeostasis of the folate metabolism pathway, which in turn can potentially lead to the development of congenital heart disease (CHD). Therefore, we investigated the association between the variants of vitamin B12-related genes and CHD in Han Chinese populations. METHODS AND

resultsSix variants of the vitamin B12-related genes were selected for analysis in two independent case-control studies, with a total of 868 CHD patients and 931 controls. The variant rs11254363 of the CUBN gene was associated with a decreased risk of developing CHD in both the separate and combined case-control studies. Combined samples from the two cohorts had a significant decrease in CHD risk for the G allele (OR = 0.48, P = 1.7×10⁻⁵) and AG+GG genotypes (OR = 0.49, P = 4×10⁻⁵), compared with the wild-type A allele and AA genotype, respectively.

conclusionsConsidering the G allele of variant rs11254363 of the CUBN gene was associated with an increased level of circulating vitamin B12. This result suggested that the carriers of the G allele would benefit from the protection offered by the high vitamin B12 concentration during critical heart development stages. This finding shed light on the unexpected role of CUBN in CHD development and highlighted the interplay of diet, genetics, and human birth defects.

Indexed as

Polymorphism, Single NucleotideAllelesAsian PeopleCase-Control StudiesChildChild, PreschoolChinaFemaleFucosyltransferasesGalactoside 2-alpha-L-fucosyltransferaseGenetic MarkersGenetics, PopulationGenotypeHaplotypesHeart FailureHumansFucosyltransferasesGalactoside 2-alpha-L-fucosyltransferaseGenetic Markersintrinsic factor-cobalamin receptorReceptors, Cell SurfaceTranscobalaminsVitamin B 12

Identifiers

PMID24533076
PMCPMC3922769
OpenAlexW2074097478

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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.