Evidence map›Paper›PMID 27677362›Full record

ArticleEuropean journal of clinical nutrition2017

Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.

S K Jaiswal, K K Sukla, A Chauhan, A R Lakhotia, A Kumar, A K Rai

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Article in European journal of clinical nutrition, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

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3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 16 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

S K JaiswalCentre for Genetic Disorders, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
K K SuklaCytogenetics Laboratory, Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
A ChauhanApplied Microbiology, Department of Botany, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
A R LakhotiaDepartment of Gynecology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
A KumarDepartment of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
A K RaiCentre for Genetic Disorders, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Banaras Hindu University · INInstitute of Medical Sciences · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesCholine is an essential nutrient involved in one-carbon metabolism, but its role in mechanisms underlying meiotic non-disjunction is poorly known. The relationship between folate-homocysteine metabolic pathway gene polymorphism and Down syndrome (DS) risk has been widely analyzed, but there are limited reports on its correlation with choline metabolism. In the present case-control association study, we investigated the relationship of three single-nucleotide polymorphisms (SNPs) (phosphatidylethanolamine N-methyltransferase (PEMT) rs12325817, choline dehydrogenase (CHDH) rs12676 and homocysteine methyltransferase (BHMT) rs3733890) of choline metabolism with risk for DS. SUBJECT/

methodsGenotyping of 228 mothers of a down syndrome child (DSM) and 200 control mothers (CMs) for all SNPs was performed by PCR coupled with restriction fragment length polymorphism method.

resultsA significantly increased risk for BHMT +742AA genotype with an odds ratio of 4.96 (95% confidence interval (CI): 1.66-14.88, P=0.0036) was observed. For PEMT rs12325817 and CHDH rs12676, no significant difference in allelic and genotypic frequencies was observed. In genotypic combination analysis considering PEMT -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT -744GC/CHDH +432GG/BHMT +742GG genotypic combination was significantly higher in DSM compared with that in CMs with an odds ratio of 2.061 (95% CI: 1.10-3.86, P=0.0342). We also observed an epistatic interaction between methylenetetrahydrofolate reductase (MTHFR) rs1801133 and choline metabolic pathway gene variants.

conclusionsOur findings indicate impaired choline metabolism showing a greater risk for DS, especially in a population associated with homocysteine-folate impairment. Further studies are required to confirm our findings.

Indexed as

AdultBetaine-Homocysteine S-MethyltransferaseCase-Control StudiesChildCholineCholine DehydrogenaseDown SyndromeFemaleFolic AcidGenetic Association StudiesGenotypeHomocysteineHumansMetabolic Networks and PathwaysMothersOdds RatioBetaine-Homocysteine S-MethyltransferaseBHMT protein, humanCholineCholine DehydrogenaseFolic AcidHomocysteinePEMT protein, humanPhosphatidylethanolamine N-Methyltransferase

Identifiers

PMID27677362
OpenAlexW2526223897

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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.