ArticleProceedings of the National Academy of Sciences of the United States of America1999
Genetic epidemiology of single-nucleotide polymorphisms.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
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Who cites it
82 citing papers in PubMed, 280 citations in OpenAlex.
- A first trial of retrospective collaboration for positional cloning in complex inheritance: assay of the cytokine region on chromosome 5 by the consortium on asthma genetics (COAG).Proceedings of the National Academy of Sciences of the United States of America · 2000Trial
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- Leveraging Single Nucleotide Polymorphism Profiling for Precision Skin Care: How SNPs Shape Individual Responses in Cosmetic Dermatology.Journal of cosmetic dermatology · 2025Review
- Interleukin-1 Beta rs16944 and rs1143634 and Interleukin-6 Receptor rs12083537 Single Nucleotide Polymorphisms as Potential Predictors of COVID-19 Severity.Pathogens (Basel, Switzerland) · 2024Article
- Assessing Privacy Vulnerabilities in Genetic Data Sets: Scoping Review.JMIR bioinformatics and biotechnology · 2024Article
- Epi-SSA: A novel epistasis detection method based on a multi-objective sparrow search algorithm.PloS one · 2024Article
- FromACS omega · 2023Review
- Polymorphisms in genes expressed during amelogenesis and their association with dental caries: a case-control study.Clinical oral investigations · 2023Article
- Selection of a Noninvasive Source of Human DNA Envisaging Genotyping Assays in Epidemiological Studies: Urine or Saliva?Journal of biomolecular techniques : JBT · 2020Article
- Persistent Infection and Long-Term Carriage of Typhoidal and Nontyphoidal Salmonellae.Clinical microbiology reviews · 2019Review
- Variations on a Chip: Technologies of Difference in Human Genetics Research.Journal of the history of biology · 2018Article
- A new haplotype block detection method for dense genome sequencing data based on interval graph modeling of clusters of highly correlated SNPs.Bioinformatics (Oxford, England) · 2018Article
- Combined effects of multiple linked loci on pairwise sibling tests.International journal of legal medicine · 2017Article
- PGAdb-builder: A web service tool for creating pan-genome allele database for molecular fine typing.Scientific reports · 2016Article
- Genetic mapping of high caries experience on human chromosome 13.BMC medical genetics · 2013Article
- Identification and prioritization of NUAK1 and PPP1CC as positional candidate loci for skeletal muscle strength phenotypes.Physiological genomics · 2011Article
- SAQC: SNP array quality control.BMC bioinformatics · 2011Article
- Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction.Psychiatric genetics · 2010Article
- Article
22 more citing papers are in PubMed but not listed here.
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3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
On the causal hypothesis, most genetic determinants of disease are single-nucleotide polymorphisms (SNPs) that are likely to be selected as markers for positional cloning. On the proximity hypothesis, most disease determinants will not be included among markers but may be detected through linkage disequilibrium with other SNPs. In that event, allelic association among SNPs is an essential factor in positional cloning. Recent simulation based on monotonic population expansion suggests that useful association does not usually extend beyond 3 kb. This is contradicted by significant disequilibrium at much greater distances, with corresponding reduction in the number of SNPs required for a cost-effective genome scan. A plausible explanation is that cyclical expansions follow population bottlenecks that establish new disequilibria. Data on more than 1,000 locus pairs indicate that most disequilibria trace to the Neolithic, with no apparent difference between haplotypes that are random or selected through a major disease gene. Short duration may be characteristic of alleles contributing to disease susceptibility and haplotypes characteristic of particular ethnic groups. Alleles that are highly polymorphic in all ethnic groups may be older, neutral, or advantageous, in weak disequilibrium with nearby markers, and therefore less useful for positional cloning of disease genes. Significant disequilibrium at large distance makes the number of suitably chosen SNPs required for genome screening as small as 30,000, or 1 per 100 kb, with greater density (including less common SNPs) reserved for candidate regions.
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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.