ArticleAmerican journal of human genetics2000
Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 44 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
- A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach.International journal of biological sciences · 2024Review
- CRISPR Correction of the GBA Mutation in Human-Induced Pluripotent Stem Cells Restores Normal Function to Gaucher Macrophages and Increases Their Susceptibility to Mycobacterium tuberculosis.The Journal of infectious diseases · 2023Article
- Article
- Gaucher disease protects against tuberculosis.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- High Rates of Three CommonGenes · 2020Article
- Glucocerebrosidase: Functions in and Beyond the Lysosome.Journal of clinical medicine · 2020Review
- Glycosphingolipids and Infection. Potential New Therapeutic Avenues.Frontiers in cell and developmental biology · 2019Review
- The USH2A c.2299delG mutation: dating its common origin in a Southern European population.European journal of human genetics : EJHG · 2010Article
- The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.Journal of neural transmission (Vienna, Austria : 1996) · 2009Review
- The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.American journal of hematology · 2009Article
- LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.American journal of human genetics · 2006Article
- A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.American journal of human genetics · 2004Article
- Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.Human genetics · 2004Article
- Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.Neurogenetics · 2004Article
- Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity.American journal of human genetics · 2003Article
- Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.American journal of human genetics · 2001Article
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1 author at 1 institution in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population. A common ancient origin for the N370S mutation in the Ashkenazi Jewish and Spanish populations has been proposed on the basis of both a similar haplotype for associated markers and an age estimate that suggests that this mutation appeared several thousand years ago. However, a reappraisal of haplotype data, using the Risch formula properly along with a Luria-Delbrück setting of the genetic clock, allows identification of the likely origin of the N370S mutation in Ashkenazi Jews between the 11th and 13th centuries. This result is consistent with the estimated ages of other mutations that are frequent among Ashkenazim, with the exception of type II (Glu117Stop) factor XI deficiency, which is deemed to be >3000 years old, predating the separation of the Ashkenazi and Iraqi Jews. The present finding supports the hypothesis of a more recent origin for the N370S mutation and is consistent with both a founder chromosome transfer from Ashkenazim who assimilated in some European populations and a non-Jewish origin of the European N370S-bearing chromosomes.
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