Back to Search
Start Over
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
- Source :
- Lim, ET; Würtz, P; Havulinna, AS; Palta, P; Tukiainen, T; Rehnström, K; et al.(2014). Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population. PLoS Genetics, 10(7). doi: 10.1371/journal.pgen.1004494. UCLA: Retrieved from: http://www.escholarship.org/uc/item/41x607qf, PLoS Genetics, Vol 10, Iss 7, p e1004494 (2014), PLoS genetics, vol 10, iss 7, PLoS Genetics, Public Library of Science, PLoS genetics, 10(7). Public Library of Science
- Publication Year :
- 2014
-
Abstract
- Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious variants that are present at higher frequencies as well as a substantial reduction in rare neutral variation. To explore the potential of the Finnish founder population for studying low-frequency (0.5–5%) variants in complex diseases, we compared exome sequence data on 3,000 Finns to the same number of non-Finnish Europeans and discovered that, despite having fewer variable sites overall, the average Finn has more low-frequency loss-of-function variants and complete gene knockouts. We then used several well-characterized Finnish population cohorts to study the phenotypic effects of 83 enriched loss-of-function variants across 60 phenotypes in 36,262 Finns. Using a deep set of quantitative traits collected on these cohorts, we show 5 associations (p<br />National Institutes of Health (U.S.) (NIH RC2 HL-102925)
- Subjects :
- Male
Cancer Research
Heredity
Genome-wide association study
Cardiovascular
whole exome sequencing
Gene Frequency
2.1 Biological and endogenous factors
Exome
Aetiology
Finland
Genetics (clinical)
Exome sequencing
Genetics
education.field_of_study
low-frequency loss-of-function variants
Cardiovascular disease
Genomics
Sequencing Initiative Suomi (SISu) Project
Founder Effect
3. Good health
Phenotypes
Phenotype
Genetic Diseases
Female
Allelic heterogeneity
Research Article
Common disease-common variant
lcsh:QH426-470
Population
European Continental Ancestry Group
education
Biology
ta3111
White People
Genetic Disorders
Mendelian randomization
Genome-Wide Association Studies
Gene Disruption
Humans
Molecular Biology
Genetic Association Studies
Ecology, Evolution, Behavior and Systematics
Evolutionary Biology
Quantitative Traits
Whites
Genetic Drift
Human Genome
Genetic Diseases, Inborn
Biology and Life Sciences
Computational Biology
Genetic Variation
Human Genetics
Genome Analysis
lcsh:Genetics
Genetics, Population
Inborn
Genetics of Disease
Generic health relevance
3111 Biomedicine
Population Genetics
Genome-Wide Association Study
Developmental Biology
Founder effect
Subjects
Details
- Language :
- English
- ISSN :
- 15537390
- Database :
- OpenAIRE
- Journal :
- Lim, ET; Würtz, P; Havulinna, AS; Palta, P; Tukiainen, T; Rehnström, K; et al.(2014). Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population. PLoS Genetics, 10(7). doi: 10.1371/journal.pgen.1004494. UCLA: Retrieved from: http://www.escholarship.org/uc/item/41x607qf, PLoS Genetics, Vol 10, Iss 7, p e1004494 (2014), PLoS genetics, vol 10, iss 7, PLoS Genetics, Public Library of Science, PLoS genetics, 10(7). Public Library of Science
- Accession number :
- edsair.doi.dedup.....6dde4079b8bb245de50c8ea6b591250b