ArticleAmerican journal of human genetics1996
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 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.
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Who cites it
55 citing papers in PubMed, 143 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
- Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Hereditary disorders of vitamin-D metabolism and its receptor.Hormones (Athens, Greece) · 2025Review
- Association of the TNFRSF1B-rs1061622 variant with nonresponse to infliximab in ulcerative colitis.Scientific reports · 2025Article
- Altered m6A RNA methylation profiles in depression implicate the dysregulation of discrete cellular functions in males and females.iScience · 2024Article
- SNORA69 is up-regulated in the lateral habenula of individuals with major depressive disorder.Scientific reports · 2024Article
- Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.Journal of applied genetics · 2022Review
- A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.Clinical genetics · 2022Article
- The genetic and epigenetic contributions to the development of nutritional rickets.Frontiers in endocrinology · 2022Review
- Article
- SARS-CoV-2 Receptor ACE2 Gene Is Associated with Hypertension and Severity of COVID 19: Interaction with Sex, Obesity, and Smoking.American journal of hypertension · 2021Article
- NGS-based identification and tracing of microsatellite instability from minute amounts DNA using inter-Alu-PCR.Nucleic acids research · 2021Article
- Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.International journal of molecular sciences · 2021Article
- High Rates of Three CommonGenes · 2020Article
- Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.Scientific reports · 2019Article
- A novel intronic mutation ofMolecular vision · 2019Article
- Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies.American journal of human genetics · 2018Article
- A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.American journal of human genetics · 2018Article
- Rickets presenting as gross motor delay in twin girls.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2018Article
- Sex-specific transcriptional signatures in human depression.Nature medicine · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudo-vitamin D-deficiency rickets (PDDR) was mapped close to D12S90 and between proximal D12S312 and distal (D12S305, D12S104) microsatellites that were subsequently found on a single YAC clone. Analysis of a complex haplotype in linkage disequilibrium (LD) with the disease discriminated among distinct founder effects in French Canadian populations in Acadia and in Charlevoix-Saguenay-Lac-Saint-Jean (Ch-SLSJ), as well as an earlier one in precolonial Europe. A simple demographic model suggested the historical age of the founder effect in Ch-SLSJ to be approximately 12 generations. The corresponding LD data are consistent with this figure when they are analyzed within the framework of Luria-Delbrück model, which takes into account the population growth. Population sampling due to a limited number of first settlers and the rapid demographic expansion appear to have played a major role in the founding of PDDR in Ch-SLSJ and, presumably, other genetic disorders endemic to French Canada. Similarly, the founder effect in Ashkenazim, coinciding with their early settlement in medieval Poland and subsequent expansion eastward, could explain the origin of frequent genetic diseases in this population.
Indexed as
Identifiers
8751865PMC1914903W1522536942What OpenQuestion holds
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.