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Recent agreement on stable reference sequences for reporting human genetic variants now allows us to mandate the use of the allele naming conventions developed by the Human Genome Variation Society.
Maps of human genome copy number variation (CNV) are maturing into useful resources for complex disease genetics. Four new studies increase the resolution of CNV maps and seek to locate human phenotypic variation on these maps.
Three large consortia present comprehensive analyses that identify genetic factors influencing smoking initiation, intensity and cessation. The genetic architecture of these three phases of smoking behavior appears to be largely distinct.
A new study reports biallelic mutations in RAD51C in a Fanconi anemia–like disorder, while a second study reports monoallelic mutations in the same gene associated with increased breast cancer risk. These findings strengthen the link between Fanconi anemia and breast cancer–associated pathways.
John Chambers and colleagues identify common variants at four loci associated with serum creatinine levels, a marker of kidney function. Their findings provide insight into the pathways underlying susceptibility to chronic kidney disease.
Caroline Fox and colleagues report results of a large genome-wide association meta-analysis and replication study for indices of renal function. Their work identifies 13 new loci associated with renal function and 7 loci associated with creatinine production and secretion.
Matthew Hurles and colleagues report the sequencing of breakpoints for over 300 CNVs detected in genomes of three individuals, using targeted hybridization-based DNA capture and 454-sequencing.
Steven Perrin and colleagues identified the transcriptionally upregulated co-stimulatory pathway in the SOD1 mouse model of amyotrophic lateral sclerosis. Monoclonal anti-CD40L therapy delayed paralysis and extended survival.
Jeong-Sun Seo and colleagues report a catalog of common CNVs in Asians. The authors integrated high-resolution array CGH data with next-generation DNA sequencing data to discover 3,568 putative Asian-specific CNVs.
Christopher Mathew and colleagues report a homozygous germline mutation of RAD51C in a Fanconi anemia-like disorder. Mutation of RAD51C, encoding a protein involved in homologous recombination-mediated DNA repair, leads to hypersensitivity to DNA cross-linking agents.
Alfons Meindl and colleagues report heterozygous germline mutations in RAD51C in families with breast and ovarian cancer. Mutations were found in 1.3% of 480 pedigrees with breast and ovarian cancer, but not in 620 pedigrees with breast cancer only.
Thorunn Rafnar and colleagues identify a variant on 4p16.3 near FGFR3 associated with increased risk of urinary bladder cancer. They find that the risk allele is more frequent among individuals with tumors that carry an activating somatic mutation in FGFR3, suggesting a link between germline variation, somatic mutation status and cancer risk.
Timothy Radstake and Maureen Mayes and colleagues report results of a genome-wide association study of systemic sclerosis. They identify a new susceptibility locus at CD247.
Mark McCarthy and colleagues report a genome-wide association study of birth weight. They identified two loci, in ADCY5 and near CCNL1, that are associated with birth weight and explain 0.3% and 0.1% of the variance in birth weight, respectively.
Jonathan Marchini and colleagues with the Ox-GSK consortium report a meta-analysis for smoking phenotypes from 20 studies including 41,150 individuals, confirming an association at the CHRNA5–CHRNA3 locus on 15q25 to smoking quantity. They use imputation based on 1,000 Genomes Project Pilot 1 data to refine the association at this locus.
The Tobacco and Genetics Consortium report meta-analyses of several smoking phenotypes across 16 cohorts including 74,053 individuals. They identify three loci associated with cigarettes smoked per day.
Kari Stefansson and colleagues report genome-wide meta-analyses for association to smoking behaviors within the population cohorts of the ENGAGE consortium. They report three loci associated to cigarettes smoked per day.
Pier Paolo Pandolfi and colleagues report the generation of mice that express 80% of normal levels of the PTEN tumor suppressor. The mice develop a spectrum of tumors, including breast tumors that retain two copies of Pten, suggesting that subtle changes in expression can predispose to tumorigenesis.
Zachary Lippman, Dani Zamir and colleagues report that the flowering gene, SINGLE FLOWER TRUSS, displays heterosis for fruit yield in tomato. Heterozygosity at this gene in several distinct genetic backgrounds leads to increases of up to 60% in fruit yield.
