Evidence map›Paper›PMID 19935835›Full record

ArticleEuropean journal of human genetics : EJHG2010

Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.

Antonio Alcina, Sreeram V Ramagopalan, Oscar Fernández, Antonio Catalá-Rabasa, María Fedetz, Dorothy Ndagire, Laura Leyva, Carmen Arnal, Concepción Delgado, Miguel Lucas and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. Review
  3. Aggressive multiple sclerosis (1): Towards a definition of the phenotype.Multiple sclerosis (Houndmills, Basingstoke, England) · 2020
    Article
  4. The return of metabolism: biochemistry and physiology of the pentose phosphate pathway.Biological reviews of the Cambridge Philosophical Society · 2015
    Review
  5. Review
  6. 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

13 authors at 5 institutions in 2 countries.

Antonio AlcinaDepartment of Cell Biology and Immunology, Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain.
Sreeram V Ramagopalan
Oscar Fernández
Antonio Catalá-Rabasa
María Fedetz
Dorothy Ndagire
Laura Leyva
Carmen Arnal
Concepción Delgado
Miguel Lucas
Guillermo Izquierdo
George C Ebers
Fuencisla Matesanz
Centre for Human Genetics · GBConsejo Superior de Investigaciones Científicas · ESHospital Universitario Virgen Macarena · ESInstituto de Parasitología y Biomedicina "López - Neyra" · ESHospital Universitario Virgen de las Nieves · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A recent genome-wide association study (GWAS) performed by the The Wellcome Trust Case-Control Consortium based on 12 374 nonsynonymous single-nucleotide polymorphisms (SNPs) provided evidence for several genes involved in multiple sclerosis (MS) susceptibility. In this study, we aimed at verifying the association of 19 SNPs with MS, with P-values < or =0.005, in an independent cohort of 732 patients and 974 controls, all Caucasian from the South of Spain. We observed an association of the rs17368528 polymorphism with MS (P=0.04, odds ratio (OR)=0.801, 95% confidence interval (CI)=0.648-0.990). The association of this polymorphism with MS was further validated in an independent set of 1318 patients from the Canadian Collaborative Project (P=0.04, OR=0.838, 95% CI=0.716-0.964). This marker is located on chromosome 1p36.22, which is 1 Mb away from the MS-associated kinesin motor protein KIF1B, although linkage disequilibrium was not observed between these two markers. The rs17368528 SNP results in an amino-acid substitution (proline to leucine) in the fifth exon of the hexose-6-phosphate dehydrogenase (H6PD) gene, in which some variants have been reported to attenuate or abolish H6PD activity, in individuals with cortisone reductase deficiency. This study corroborates the association of one locus determined by GWAS and points to H6PD as a new candidate gene for MS.

Indexed as

Genetic Predisposition to DiseaseAdultCanadaCarbohydrate DehydrogenasesCase-Control StudiesCohort StudiesFemaleGenome-Wide Association StudyHumansMaleMultiple SclerosisPolymorphism, Single NucleotideReproducibility of ResultsSpainUnited KingdomCarbohydrate Dehydrogenasesgalactose-6-phosphate dehydrogenase

Identifiers

PMID19935835
PMCPMC2987318
OpenAlexW2056231296

What OpenQuestion holds

Textmetadata
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.