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Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
- Source :
- Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018), Nature Communications, Nature communications, vol 9, iss 1
- Publication Year :
- 2018
-
Abstract
- Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted loss-of-function (pLOF) variants provide insight into effector transcript and direction of biological effect. In >400,000 UK Biobank participants, we conduct association analyses of 3759 pLOF variants with six metabolic traits, six cardiometabolic diseases, and twelve additional diseases. We identified 18 new low-frequency or rare (allele frequency<br />Examination of predicted loss-of-function (pLOF) genetic variants allows direct identification of genes with therapeutic potential. Here, Emdin et al. perform association analysis for 3759 pLOF variants with 24 traits and highlight protective variants against cardiometabolic and immune phenotypes.
- Subjects :
- 0301 basic medicine
General Physics and Astronomy
Disease
030204 cardiovascular system & hematology
Cardiovascular
0302 clinical medicine
Gene Frequency
Databases, Genetic
2.1 Biological and endogenous factors
Aetiology
lcsh:Science
2. Zero hunger
Genetics
Multidisciplinary
Diabetis
medicine.diagnostic_test
Metabolisme
3. Good health
Fenotip
Heart Disease
Phenotype
Type 2
Biotechnology
Science
Biology
General Biochemistry, Genetics and Molecular Biology
Article
Frameshift mutation
Databases
03 medical and health sciences
Genetic
Genetic variation
Diabetes Mellitus
medicine
Respiratory Hypersensitivity
Humans
Genetic Testing
Obesity
Allele
Allele frequency
Gene
Heart Disease - Coronary Heart Disease
Metabolic and endocrine
Loss function
Genetic testing
Human Genome
Genetic Variation
Proteins
General Chemistry
Atherosclerosis
United Kingdom
Good Health and Well Being
030104 developmental biology
Diabetes Mellitus, Type 2
lcsh:Q
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Nature Communications
- Accession number :
- edsair.doi.dedup.....8e8ad3a2c0ec080c5c7ed976ba62fb2b