Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

By Jonathan C. Cohen, R. S. Kiss, A. Pertsemlidis, Y. Marcel, R. McPherson, Helen H. Hobbs. Science, 2004

1,127 citations recorded by the source corpus.

Subfields: Biochemistry, Genetics, Surgery

View Paper: https://www.semanticscholar.org/paper/4f620d117a7f8aaafbe5270662abaf2ff75c800f

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Biochemistry

1. Shah Ebrahim

In Genetics

1. Gonçalo R. Abecasis
2. Alkes L Price
3. Sharon R. Browning
4. Matthew Stephens
5. Seunggeun Lee
6. Mark J. Daly
7. Xihong Lin
8. Jonathan Marchini

In Surgery

1. Mark J. Daly
2. David Altshuler
3. Marja-Riitta Taskinen
4. Helen H. Hobbs
5. R. Collins
6. Massimo F. Piepoli

Citations in the corpus

• New approaches to population stratification in genome-wide association studies (2010, background): “Second, exome resequencing projects will aim to identify genes in which individuals with extreme phenotypes have an aggregate excess or deficiency of rare non-synonymous variant”
• Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. (2007, methodology): “Such a missense-accumulation approach to candidate-gene association studies has been successfully used recently in studies of the MC4R gene,(65) tyrosine phosphatome in colorectal cancers,(66) and genes involved in lipid-metabolism disorders.(67) However, two major potential disadvantages of this me”
• Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects (2016, positive): “Naturallyoccurring LoF variants provide a powerful model for understanding the impact of gene inactivation on human phenotype, as illustrated by the development of PCSK9 inhibitors (guided by the discovery of LoF variants in this gene that reduce LDL cholesterol) 20 .”
• Common and rare variants in multifactorial susceptibility to common diseases (2008, result): “Very similar overall results to those described above for colorectal adenomas have been found in a systematic study of the control of plasma levels of HDL cholestero”
• Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans (2008, background): “As nine of the loci with common variants ( ABCA1 , APOA1-APOC3-APOA4-APOA5 , APOB , APOE , CETP , LDLR , LIPC , LPL and PCSK9 ) have also been shown to cause mendelian syndromes or harbor multiple rare alleles that contribute to trait variatio”
• Rare independent mutations in renal salt handling genes contribute to blood pressure variation (2008, result): “Similar findings of multiple rare mutations in genes for mendelian recessive forms of HDL level variatio”
• Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes (2009, neutral): “Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common diseases, raising the question of whether rare variants account for a significant fraction of unexplained heritability 1,2 .”