ArticleAnnals of Saudi medicine
Common disease-associated gene variants in a Saudi Arabian population.
Article in Annals of Saudi medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 28 citations in OpenAlex.
- Public Awareness of Genetic Diseases, Preventive Screening, and Genetic Healthcare Services in the Qassim Region, Saudi Arabia: A Cross-Sectional Study.Healthcare (Basel, Switzerland) · 2026Article
- A framework for population health observatory from a global perspective: proposed preliminary maturity model and key performance indicators.Frontiers in public health · 2026Article
- A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.Human mutation · 2026Review
- The role and future of the population health observatory: advancing public health intelligence in Saudi Arabia.Frontiers in public health · 2026Review
- Genomic and epigenomic diversity of breast cancer across Western and MENA populations: implications for precision oncology.Frontiers in oncology · 2026Review
- Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.Frontiers in public health · 2026Article
- Congenital glaucoma prevention program-Evaluation of patient knowledge and acceptance of genetic screening.Journal of genetic counseling · 2025Article
- Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.Genes · 2025Review
- Patterns of population structure and genetic variation within the Saudi Arabian population.bioRxiv : the preprint server for biology · 2025Article
- National strategies for screening neural tube defects in Saudi Arabia: activating prevention and early intervention.Frontiers in public health · 2025Review
- Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.Frontiers in ophthalmology · 2025Review
- Crosstalk: Biochemical Signatures and Clinical Implications in Rare Hereditary Hemolytic Anemias (Hereditary Spherocytosis).Current pharmaceutical design · 2025Article
- Unveiling the heritability of selected unexplored pharmacogenetic markers in the Saudi population.Frontiers in pharmacology · 2025Article
- Challenges in evaluation and reimbursement of drugs for rare diseases in Saudi Arabia: a Delphi expert consensus.Journal of pharmaceutical policy and practice · 2025Article
- Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.BMC pregnancy and childbirth · 2024Article
- The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia.BMC public health · 2024Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.Journal of epidemiology and global health · 2024Article
- Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.BMC medical genomics · 2024Article
- Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study.International journal of environmental research and public health · 2023Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundScreening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because of the highly consanguineous population. The optimal solution for estimating the carrier frequency of the most prevalent diseases is carrier screening.
objectivesIdentify the most influential recessive alleles associated with disease in the Saudi population.
designWe used clinical whole-exome sequencing data from an in-house familial database to evaluate the most prevalent genetic variations associated with disease in a Saudi population. SETTINGS: King Abdullah International Medical Research Center (KAIMRC) and King Abdulaziz Medical City.
methodsWhole exome sequencing data obtained from clinical studies of family members, a cohort of 1314 affected and unaffected individuals, were filtered using the in-house pipeline to extract the most prevalent variant in the dataset.
main outcome measuresMost prevalent genetic variations associated with disease in the Saudi population. SAMPLE SIZE: 1314 affected and unaffected individuals.
resultsWe identified 37 autosomal recessive variants and two heterozygous X-linked variants in 35 genes associated with the most prevalent disorders, which included hematologic (32%), endocrine (21%), metabolic (11%) and immunological (10%) diseases.
conclusionThis study provides an update of the most frequently occurring alleles, which support future carrier screening programs. LIMITATIONS: Single center that might represent the different regions but may be biased. In addition, most of the families included in the database are part of the proband's genetic identification for specific phenotypes. CONFLICT OF INTEREST: None.
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