Evidence map›Paper›PMID 30911047›Full record

ArticleScientific reports2019

Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population.

Changfei Deng, Ying Deng, Liang Xie, Li Yu, Lijun Liu, Hanmin Liu, Li Dai

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
3.5field-weighted citation impact, top 7% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.

  1. Pooled it
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  11. [MaternalZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
    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

7 authors at 2 institutions in 1 country.

Changfei DengNational Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Ying DengNational Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Liang XieKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Li YuDepartment of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Lijun LiuKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Hanmin LiuKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Li DaiNational Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. daili@scu.edu.cn.
West China Second University Hospital of Sichuan University · CNSichuan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic polymorphisms of folate pathway genes have been reported to be associated with congenital heart diseases (CHDs); however, the results remain conflicting. We conducted a family-based case-control study, which included160 CHD case-parent triads and 208 control-parent triads to explore the association of 18 genetic variants of seven folate metabolism-related genes with the risk of CHDs. The MTR C allele of rs1770449 (OR = 1.961, 95%CI: 1.379-2.788) and the MTR A allele of rs1050993 (OR = 1.994, 95%CI: 1.401-2.839) in infants were associated with an increased risk of CHDs. Over-transmission of SNPs rs1770449 and rs1050993 and haplotype CAA (rs1770449-rs1805087-rs1050993) in MTR were detected in total CHDs. The above mentioned associations of MTR with CHDs were also observed in septal defects and conotruncal heart defects subgroups. Without maternal periconceptional folate intake, the risk of CHDs among women carrying the rs1770449 "CT or CC" genotype or the rs1050993 "AG or AA" genotype in MTR was 3.262(95%CI: 1.656-6.429) or 3.263(95%CI: 1.656-6.429) times greater than the aOR in women carrying wild genotype, respectively. Our study suggests that MTR polymorphisms (rs1770449 and rs1050993) may be associated with the risk of CHDs and modify the relation between maternal folate intake and CHDs.

Indexed as

Genetic Predisposition to Disease5-Methyltetrahydrofolate-Homocysteine S-MethyltransferaseAdultAllelesCase-Control StudiesChinaFemaleFolic AcidGenetic Association StudiesGenotypeHaplotypesHeart DiseasesHumansInheritance PatternsMaleMaternal Exposure5-Methyltetrahydrofolate-Homocysteine S-MethyltransferaseFolic AcidMTR protein, human

Identifiers

PMID30911047
PMCPMC6433945
OpenAlexW2925253104

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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.