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A high-resolution recombination map of the human genome
Recombination rates are significantly correlated with both cytogenetic structures and sequence and paternal chromosomes show many differences in locations of recombination maxima, suggesting that there is some underlying component determined by both genetic and environmental factors that affects maternal recombination rates.
Genetic studies of body mass index yield new insights for obesity biology
A genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals provide strong support for a role of the central nervous system in obesity susceptibility.
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids
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.
Biological Insights From 108 Schizophrenia-Associated Genetic Loci
Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
A microsatellite within intron 3 of the transcription factor 7–like 2 gene (TCF7L2; formerly TCF4) was associated with type 2 diabetes mellitus and is thought to act through regulation of proglucagon gene expression in enteroendocrine cells via the Wnt signaling pathway.
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
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.
Neuregulin 1 and susceptibility to schizophrenia.
- H. Stefánsson, E. Sigurdsson, K. Stefánsson
- Psychology, MedicineAmerican journal of human genetics
- 1 October 2002
The results of a genomewide scan of schizophrenia families in Iceland show that schizophrenia maps to chromosome 8p, and extensive fine-mapping of the 8p locus and haplotype-association analysis identifies neuregulin 1 (NRG1) as a candidate gene for schizophrenia.
Rate of de novo mutations and the importance of father’s age to disease risk
A study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent–offspring trios at high coverage shows that the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child.
Variant of TREM2 associated with the risk of Alzheimer's disease.
These findings strongly implicate variant TREM2 in the pathogenesis of Alzheimer's disease and find that carriers of rs75932628-T between the ages of 80 and 100 years without Alzheimer’s disease had poorer cognitive function than noncarriers.
Discovery and Refinement of Loci Associated with Lipid Levels
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.