Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids
- Tanya M. Teslovich, K. Musunuru, S. Kathiresan
- BiologyNature
- 1 August 2010
The results identify several novel loci associated with plasma lipids that are also associated with CAD and provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- E. Speliotes, C. Willer, R. Loos
- Biology, Medicine
- 2010
18 new loci associated with body mass index are identified, one of which includes a copy number variant near GPRC5B, and genes in other newly associated loci may provide new insights into human body weight regulation.
LocusZoom: regional visualization of genome-wide association scan results
LocusZoom is a web-based plotting tool that provides fast visual display of GWAS results in a publication-ready format that visually displays regional information such as the strength and extent of the association signal relative to genomic position, local linkage disequilibrium (LD) and recombination patterns and the positions of genes in the region.
Discovery and Refinement of Loci Associated with Lipid Levels
- C. Willer, Ellen M. Schmidt, G. Abecasis
- BiologyNature Genetics
- 6 October 2013
It is found that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index.
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
- A. Morris, B. Voight, M. McCarthy
- BiologyNature Genetics
- 26 July 2012
A meta-analysis of genetic variants on the Metabochip, including 34,840 cases and 114,981 controls, finds a long tail of additional common variant loci explaining much of the variation in susceptibility to type 2 diabetes.
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
- S. J. Ansley, J. Badano, N. Katsanis
- Biology, MedicineNature
- 9 October 2003
It is shown that BBS is probably caused by a defect at the basal body of ciliated cells, and a new BBS gene is cloned, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility.
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index
- E. Speliotes, C. Willer, R. Loos
- Biology, MedicineNature Genetics
- 10 October 2010
Genetic loci associated with body mass index map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor, which may provide new insights into human body weight regulation.
Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene
- Jin Billy Li, J. Gerdes, S. Dutcher
- BiologyCell
- 14 May 2004
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits
- B. Voight, H. Kang, M. Boehnke
- BiologyPLoS Genetics
- 1 August 2012
The Metabochip and its component SNP sets are described and evaluated, its performance in capturing variation across the allele-frequency spectrum is evaluated, solutions to methodological challenges commonly encountered in its analysis are described, and its performance as a platform for genotype imputation is evaluated.
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.
- D. Arking, D. Cutler, A. Chakravarti
- Biology, PsychologyAmerican Journal of Human Genetics
- 10 January 2008
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