Evidence map›Paper›PMID 37895268›Full record

ArticleGenes2023

Impact of Genetic Variations on Thromboembolic Risk in Saudis with Sickle Cell Disease.

Mohammad A Alshabeeb, Deemah Alwadaani, Farjah H Al Qahtani, Salah Abohelaika, Mohsen Alzahrani, Abdullah Al Zayed, Hussain H Al Saeed, Hala Al Ajmi, Barrak Alsomaie, Mamoon Rashid and 1 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 16% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Sequencing and health data resource of children of African ancestry.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
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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

11 authors at 4 institutions in 2 countries.

Mohammad A AlshabeebKing Abdullah International Medical Research Center (KAIMRC), Riyadh 11426, Saudi Arabia.ORCID 0000-0002-8885-6254
Deemah AlwadaaniKing Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.
Farjah H Al QahtaniHematology/Oncology Center, King Saud University Medical City (KSUMC), Riyadh 11411, Saudi Arabia.
Salah AbohelaikaResearch Department, Qatif Central Hospital (QCH), Qatif 32654, Saudi Arabia.ORCID 0000-0002-0828-3469
Mohsen AlzahraniKing Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.
Abdullah Al ZayedHematology Department, Qatif Central Hospital (QCH), Qatif 32654, Saudi Arabia.
Hussain H Al SaeedHematology Department, Qatif Central Hospital (QCH), Qatif 32654, Saudi Arabia.
Hala Al AjmiKing Abdullah International Medical Research Center (KAIMRC), Riyadh 11426, Saudi Arabia.
Barrak AlsomaieKing Abdullah International Medical Research Center (KAIMRC), Riyadh 11426, Saudi Arabia.
Mamoon RashidKing Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.
Ann K DalyTranslational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE1 7RU, UK.
King Saud bin Abdulaziz University for Health Sciences · SAQatif Central Hospital · SAKing Saud Medical City · SANewcastle University · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSickle cell disease (SCD) is a Mendelian disease characterized by multigenic phenotypes. Previous reports indicated a higher rate of thromboembolic events (TEEs) in SCD patients. A number of candidate polymorphisms in certain genes (e.g., FVL, PRT, and MTHFR) were previously reported as risk factors for TEEs in different clinical conditions. This study aimed to genotype these genes and other loci predicted to underlie TEEs in SCD patients. METHODOLOGY: A multi-center genome-wide association study (GWAS) involving Saudi SCD adult patients with a history of TEEs (n = 65) and control patients without TEE history (n = 285) was performed. Genotyping used the 10× Affymetrix Axiom array, which includes 683,030 markers. Fisher's exact test was used to generate p-values of TEE associations with each single-nucleotide polymorphism (SNP). The haplotype analysis software tool version 1.05, designed by the University of Göttingen, Germany, was used to identify the common inherited haplotypes.

resultsNo association was identified between the targeted single-nucleotide polymorphism rs1801133 in MTHFR and TEEs in SCD (

conclusionsSeven markers showed novel genome-wide associations; two of them were exonic variants (rs317777 in OLFM5P and rs147062602 in OR51B5), and less significant associations (

Indexed as

Anemia, Sickle CellReceptors, OdorantAdultGenome-Wide Association StudyGenotypeHaplotypesHumansNeoplasm ProteinsPolymorphism, Single NucleotideNeoplasm ProteinsOR51E2 protein, humanReceptors, OdorantGWAShaplotypesolfactory receptorsSaudissickle cell disease (SCD)thromboembolic events (TEEs)

Identifiers

PMID37895268
PMCPMC10606407
OpenAlexW4387451796

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.