ArticleAmerican journal of human genetics2003
Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 146 citations in OpenAlex.
- Identification of genetic effects underlying type 2 diabetes in South Asian and European populations.Communications biology · 2022Pooled it
- Population-Stratified Human Genetic Studies Are Not Eugenics: A Response to Donohue and Myles.Bioethics · 2026Article
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Allele frequency patterns of 78,122,254 SNPs illuminate diverse possible evolutionary trajectories of human populations.Scientific reports · 2026Article
- Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.bioRxiv : the preprint server for biology · 2025Article
- Fine-scale genetic structure and rare variant frequencies.PloS one · 2024Article
- The collective burden of childhood dementia: a scoping review.Brain : a journal of neurology · 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
- Genomes from a medieval mass burial show Ashkenazi-associated hereditary diseases pre-date the 12th century.Current biology : CB · 2022Article
- Article
- Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.Pediatric neurology · 2021Article
- Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.Frontiers in genetics · 2020Review
- Autosomal recessive diseases among the Israeli Arabs.Human genetics · 2019Article
- A founder deletion in theHuman genome variation · 2019Article
- A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure.European journal of human genetics : EJHG · 2018Article
- Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.Molecular genetics and metabolism reports · 2017Article
- The time and place of European admixture in Ashkenazi Jewish history.PLoS genetics · 2017Article
- Atlas of human diseases influenced by genetic variants with extreme allele frequency differences.Human genetics · 2017Article
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4 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The presence of four lysosomal storage diseases (LSDs) at increased frequency in the Ashkenazi Jewish population has suggested to many the operation of natural selection (carrier advantage) as the driving force. We compare LSDs and nonlysosomal storage diseases (NLSDs) in terms of the number of mutations, allele-frequency distributions, and estimated coalescence dates of mutations. We also provide new data on the European geographic distribution, in the Ashkenazi population, of seven LSD and seven NLSD mutations. No differences in any of the distributions were observed between LSDs and NLSDs. Furthermore, no regular pattern of geographic distribution was observed for LSD versus NLSD mutations-with some being more common in central Europe and others being more common in eastern Europe, within each group. The most striking disparate pattern was the geographic distribution of the two primary Tay-Sachs disease mutations, with the first being more common in central Europe (and likely older) and the second being exclusive to eastern Europe (primarily Lithuania and Russia) (and likely much younger). The latter demonstrates a pattern similar to two other recently arisen Lithuanian mutations, those for torsion dystonia and familial hypercholesterolemia. These observations provide compelling support for random genetic drift (chance founder effects, one approximately 11 centuries ago that affected all Ashkenazim and another approximately 5 centuries ago that affected Lithuanians), rather than selection, as the primary determinant of disease mutations in the Ashkenazi population.
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