ArticleAmerican journal of human genetics2004
A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01274208 (Enhanced HCV Nonstructural Protein 3), which is not on this map. Cited by 50 papers.
What it found
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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.
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.
Enhanced HCV Nonstructural Protein 3 (NS3) -Specific T Cell Proliferation,Interferon γ (IFNγ) and Interleukin-10 (IL-10) Secreting Clones, and Peripheral Blood Natural Killers T Cells ( NKT Cells) in Patients With Type I Gaucher Disease Infected With HCV : An Advantage in Anti Hepatitis Immunity?
Who cites it
50 citing papers in PubMed, 114 citations in OpenAlex.
- Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma.PloS one · 2018Trial
- Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawai'i.Science (New York, N.Y.) · 2026Article
- Genetic Allee Effects for Controlling Invasive Populations.Molecular ecology · 2026Article
- Familial Searching utilising the National Forensic DNA Database of South Africa (NFDD-ZA) to aid in the identification of Missing Persons and Unidentified Human Remains.Forensic science international. Synergy · 2025Article
- Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.Diagnostics (Basel, Switzerland) · 2025Article
- Article
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.Neurogenetics · 2025Article
- Genetic variants associated with age-related episodic memory decline implicate distinct memory pathologies.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Clinical and Genetic Analysis of Patients With TK2 Deficiency.Neurology. Genetics · 2024Article
- South Asia: The Missing Diverse in Diversity.Behavior genetics · 2024Review
- Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.Genetics in medicine open · 2024Article
- Applications of genomic research in pediatric endocrine diseases.Clinical and experimental pediatrics · 2023Article
- Review
- Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.Nature medicine · 2023Article
- The landscape of tolerated genetic variation in humans and primates.Science (New York, N.Y.) · 2023Article
- The landscape of tolerated genetic variation in humans and primates.bioRxiv : the preprint server for biology · 2023Article
- Gaucher disease protects against tuberculosis.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14Cell · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
A founder effect can account for the presence of an allele at an unusually high frequency in an isolated population if the allele is selectively neutral and if all copies are identical by descent with a copy that either was carried by a founder individual or arose by mutation later. Here, a statistical test of both aspects of the founder-effect hypothesis is developed. The test is performed by a modified version of a program that implements the Slatkin-Bertorelle test of neutrality. The test is applied to several disease-associated alleles found predominantly in Ashkenazi Jews. Despite considerable uncertainty about the demographic history of Ashkenazi Jews and their ancestors, available genetic data are consistent with a founder effect resulting from a severe bottleneck in population size between a.d. 1100 and a.d. 1400 and an earlier bottleneck in a.d. 75, at the beginning of the Jewish Diaspora. The relatively high frequency of alleles causing four different lysosomal storage disorders, including Tay-Sachs disease and Gaucher disease, can be accounted for if the disease-associated alleles are recessive in their effects on reproductive fitness.
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Registered trials
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.