Evidence map›Paper›PMID 40141459›Full record

ArticleInternational journal of molecular sciences2025

Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.

Ali Alghubayshi, Dayanjan Wijesinghe, Deemah Alwadaani, Farjah H Algahtani, Salah Abohelaika, Mohsen Alzahrani, Hussain H Al Saeed, Abdullah Al Zayed, Suad Alshammari, Yaseen Alhendi and 3 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Review
  2. Sickle cell hepatopathy in Oman: An emerging burden demanding regional action.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association · 2025
    Article
  3. 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.

Ali AlghubayshiDepartment of Clinical Pharmacy, College of Pharmacy, University of Ha'il, Ha'il 55473, Saudi Arabia.
Dayanjan WijesingheDepartment of Pharmacotherapy and Outcomes Science, School of Pharmacy, Virginia Commonwealth University, Richmond, VA 23298, USA.ORCID 0000-0002-2124-5109
Deemah AlwadaaniMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh 11481, Saudi Arabia.ORCID 0000-0001-6536-0777
Farjah H AlgahtaniHematology/Oncology Center, King Saud University Medical City (KSUMC), Riyadh 11411, Saudi Arabia.ORCID 0000-0002-6552-6260
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.
Hussain H Al SaeedHematology Department, Qatif Central Hospital (QCH), Qatif 32654, Saudi Arabia.ORCID 0000-0001-9143-1436
Abdullah Al ZayedHematology Department, Qatif Central Hospital (QCH), Qatif 32654, Saudi Arabia.ORCID 0000-0001-8629-7885
Suad AlshammariDepartment of Pharmacotherapy and Outcomes Science, School of Pharmacy, Virginia Commonwealth University, Richmond, VA 23298, USA.
Yaseen AlhendiKing Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.
Barrak AlsomaieKing Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.
Abdulmonem AlsalehKing Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.ORCID 0000-0002-1188-1451
Mohammad A AlshabeebKing Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.

Funding

King Abdullah International Medical Research Center RC19-083-R
6 · The paper itself

Abstract

Sickle cell disease (SCD) is a severe inherited blood disorder characterized by abnormal hemoglobin (HbS) that leads to varying degrees of severity, including chronic hemolysis, episodic vaso-occlusion, and damage to multiple organs, causing significant morbidity and mortality. While SCD is a monogenic disease, its complications are influenced by polygenic factors. SCD prevalence is notably high in regions including the Middle East, with Saudi Arabia reporting significant cases, particularly in the Eastern Province. Most genetic factors associated with SCD outcomes have been identified in populations predominantly from Africa or of African ancestry. This study aims to identify genetic variants that characterize Saudi SCD patients with the potential to influence disease outcomes in this population. A multicenter case-control genome-wide association study (GWAS) was conducted involving 350 adult Saudi SCD patients and 202 healthy controls. Participants were genotyped using the Affymetrix Axiom array, covering 683,030 markers. Rigorous quality control measures were applied to ensure data integrity. Fisher's exact was used to identify genetic variants with a significant difference in allele frequency (

Indexed as

Anemia, Sickle CellGenetic Predisposition to DiseaseGenome-Wide Association StudyAdultCase-Control StudiesFemaleGene FrequencyGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideSaudi ArabiaYoung Adultgenome-wide association study (GWAS)hemoglobin S (HbS)olfactory receptor clusters (ORs)Saudissickle cell disease (SCD)β-globin subunit

Identifiers

PMID40141459
PMCPMC11942740

What Socratic holds

Textmetadata
LicenceCC BY
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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.