ArticleProceedings of the National Academy of Sciences of the United States of America1998
Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 243 citations in OpenAlex.
- Archaeogenetics reveals fine-scale genetic continuity and patterns of kinship and health in medieval Finland.iScience · 2025Article
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- Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.European journal of human genetics : EJHG · 2021Article
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- Understanding the Hidden Complexity of Latin American Population Isolates.American journal of human genetics · 2018Article
- Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset.Scientific reports · 2017Article
- A Scale-Corrected Comparison of Linkage Disequilibrium Levels between Genic and Non-Genic Regions.PloS one · 2015Article
- Distribution and medical impact of loss-of-function variants in the Finnish founder population.PLoS genetics · 2014Article
- Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.American journal of human genetics · 2014Article
- Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.PloS one · 2013Article
- Exome sequencing and complex disease: practical aspects of rare variant association studies.Human molecular genetics · 2012Review
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- An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9.Molecular vision · 2010Article
- Genetic markers and population history: Finland revisited.European journal of human genetics : EJHG · 2009Article
- The primary hyperoxalurias.Kidney international · 2009Review
- Genotype imputation.Annual review of genomics and human genetics · 2009Review
- Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.PloS one · 2008Article
- Article
1 more citing papers are in PubMed but not listed here.
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2 authors at 1 institution in 1 country.
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Abstract
Linkage disequilibrium analysis can provide high resolution in the mapping of disease genes because it incorporates information on recombinations that have occurred during the entire period from the mutational event to the present. A circumstance particularly favorable for high-resolution mapping is when a single founding mutation segregates in an isolated population. We review here the population structure of Finland in which a small founder population some 100 generations ago has expanded into 5.1 million people today. Among the 30-odd autosomal recessive disorders that are more prevalent in Finland than elsewhere, several appear to have segregated for this entire period in the "panmictic" southern Finnish population. Linkage disequilibrium analysis has allowed precise mapping and determination of genetic distances at the 0.1-cM level in several of these disorders. Estimates of genetic distance have proven accurate, but previous calculations of the confidence intervals were too small because sampling variation was ignored. In the north and east of Finland the population can be viewed as having been "founded" only after 1500. Disease mutations that have undergone such a founding bottleneck only 20 or so generations ago exhibit linkage disequilibrium and haplotype sharing over long genetic distances (5-15 cM). These features have been successfully exploited in the mapping and cloning of many genes. We review the statistical issues of fine mapping by linkage disequilibrium and suggest that improved methodologies may be necessary to map diseases of complex etiology that may have arisen from multiple founding mutations.
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