Evidence map›Paper›PMID 20154341›Full record

ArticleHuman molecular genetics2010

Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.

Leslie A Lange, Damien C Croteau-Chonka, Amanda F Marvelle, Li Qin, Kyle J Gaulton, Christopher W Kuzawa, Thomas W McDade, Yunfei Wang, Yun Li, Shawn Levy and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 8 pooled it
3.7field-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

50 citing papers in PubMed, 8 syntheses or guidelines pooled it, 69 citations in OpenAlex.

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  17. Is there any relationship between mutation in CPS1 Gene and pregnancy loss?International journal of reproductive biomedicine · 2019
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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

14 authors at 4 institutions in 2 countries.

Leslie A LangeDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Damien C Croteau-Chonka
Amanda F Marvelle
Li Qin
Kyle J Gaulton
Christopher W Kuzawa
Thomas W McDade
Yunfei Wang
Yun Li
Shawn Levy
Judith B Borja
Ethan M Lange
Linda S Adair
Karen L Mohlke
Northwestern University · USUniversity of North Carolina at Chapel Hill · USUniversity of San Carlos · PHVanderbilt University · US

Funding

UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3M
UNIV OF NORTH CAROLINA CLINICAL NUTRITION RESEARCH UNITP30DK056350 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SUSAN M. SMITH · 1999 to 2026
$31.6M
Carolina Population CenterR24HD050924 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI MORGAN, SAMUEL PHILIP · 2005 to 2014
$10.0M
Pre-doctoral Training Program in Integrative Vascular BiologyT32HL069768 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Christopher P. Mack · 2002 to 2026
$9.7M
NRSA IN GENETICST32GM007092 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SEKELSKY, JEFF J. · 1985 to 2019
$5.9M
Genetic Epidemiology of Body Mass Index, Adiposity and Weight GainR01DK078150 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI MOHLKE, KAREN L. · 2007 to 2010
$2.3M
Obesity development and CVD risk factor--Filipino womenR01HL085144 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ADAIR, LINDA S · 2006 to 2009
$1.9M
An Interdisciplinary Strategy for Obesity (RMI)P20RR020649 · NCRR · UNIV OF NORTH CAROLINA CHAPEL HILL · PI POPKIN, BARRY M · 2004 to 2006
$1.7M
Effect of Health on Education &Work in Filipino YouthR01TW005596 · FIC · UNIVERSITY OF NORTH CAROLINA CHAPEL HILL · PI ADAIR, LINDA S · 2001 to 2005
$1.5M
FIC NIH HHS TW05596NCRR NIH HHS RR20649NHLBI NIH HHS HL085144NHLBI NIH HHS T32 HL69768NICHD NIH HHS R24 HD050924NIDDK NIH HHS DK078150NIDDK NIH HHS DK56350NIEHS NIH HHS ES10126NIGMS NIH HHS T32 GM007092
6 · The paper itself

Abstract

Plasma homocysteine (Hcy) level is associated with cardiovascular disease and may play an etiologic role in vascular damage, a precursor for atherosclerosis. We performed a genome-wide association study for Hcy in 1786 unrelated Filipino women from the Cebu Longitudinal Health and Nutrition Survey (CLHNS). The most strongly associated single-nucleotide polymorphism (SNP) (rs7422339, P = 4.7 x 10(-13)) encodes Thr1405Asn in the gene CPS1 and explained 3.0% of variation in the Hcy level. The widely studied MTHFR C677T SNP (rs1801133) was also highly significant (P = 8.7 x 10(-10)) and explained 1.6% of the trait variation. We also genotyped these two SNPs in 1679 CLHNS young adult offspring. The MTHFR C677T SNP was strongly associated with Hcy (P = 1.9 x 10(-26)) and explained approximately 5.1% of the variation in the offspring. In contrast, the CPS1 variant was significant only in females (P = 0.11 in all; P = 0.0087 in females). Combined analysis of all samples confirmed that the MTHFR variant was more strongly associated with Hcy in the offspring (interaction P = 1.2 x 10(-5)). Furthermore, although there was evidence for a positive synergistic effect between the CPS1 and MTHFR SNPs in the offspring (interaction P = 0.0046), there was no significant evidence for an interaction in the mothers (P = 0.55). These data confirm a recent finding that CPS1 is a locus influencing Hcy levels in women and suggest that genetic effects on Hcy may differ across developmental stages.

Indexed as

Genome-Wide Association StudyCarbamoyl-Phosphate Synthase (Ammonia)Cardiovascular DiseasesFemaleFollow-Up StudiesGenetic Predisposition to DiseaseHealth SurveysHomocysteineHumansMethylenetetrahydrofolate Reductase (NADPH2)MothersNutrition SurveysPhilippinesPolymorphism, Single NucleotideQuantitative Trait LociReproducibility of ResultsCarbamoyl-Phosphate Synthase (Ammonia)HomocysteineMethylenetetrahydrofolate Reductase (NADPH2)

Identifiers

PMID20154341
PMCPMC2860887
OpenAlexW2129606441

What OpenQuestion holds

Textmetadata
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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.