ArticleAmerican journal of human genetics2013
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 78 papers, 1 of them a synthesis that pooled it.
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Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Empirically determined baseline masking strategies and other considerations for gene-level burden tests.Nature genetics · 2026Pooled it
- Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.The Journal of clinical investigation · 2020Trial
- Dissecting heritability, environmental risk, and air pollution causal effects using > 50 million individuals in MarketScan.Nature communications · 2024Article
- Article
- Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.Molecular genetics and genomics : MGG · 2023Article
- A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels.Nature genetics · 2022Article
- Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.Nature communications · 2022Article
- Review
- Coding variants identified in patients with diabetes alter PICK1 BAR domain function in insulin granule biogenesis.The Journal of clinical investigation · 2022Article
- Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation.Frontiers in genetics · 2022Article
- Article
- PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.Scientific reports · 2021Article
- Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.Genome medicine · 2020Article
- A mutation map for human glycoside hydrolase genes.Glycobiology · 2020Article
- A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation.Scientific reports · 2020Article
- Targeted exon sequencing in deceased schizophrenia patients in Denmark.International journal of legal medicine · 2020Article
- A rare missense variant inHereditary cancer in clinical practice · 2020Article
- Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.European journal of human genetics : EJHG · 2019Article
- The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes.Current diabetes reports · 2019Review
- Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.Scientific reports · 2019Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It has been hypothesized that, in aggregate, rare variants in coding regions of genes explain a substantial fraction of the heritability of common diseases. We sequenced the exomes of 1,000 Danish cases with common forms of type 2 diabetes (including body mass index > 27.5 kg/m(2) and hypertension) and 1,000 healthy controls to an average depth of 56×. Our simulations suggest that our study had the statistical power to detect at least one causal gene (a gene containing causal mutations) if the heritability of these common diseases was explained by rare variants in the coding regions of a limited number of genes. We applied a series of gene-based tests to detect such susceptibility genes. However, no gene showed a significant association with disease risk after we corrected for the number of genes analyzed. Thus, we could reject a model for the genetic architecture of type 2 diabetes where rare nonsynonymous variants clustered in a modest number of genes (fewer than 20) are responsible for the majority of disease risk.
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