Defining the role of common variation in the genomic and biological architecture of adult human height

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.2014

Development of a molecular test to determine the vitality status of Norway spruce (Picea abies) seedlings during frozen storage

In boreal forest regions, a great portion of forest tree seedlings are stored indoors in late autumn to prevent seedlings from outdoor winter damage. For seedlings to be able to survive in storage it is crucial that they store well and can cope with the dark and cold storage environment. The aim of this study was to search for genes that can determine the vitality status of Norway spruce (Picea abies (L.) Karst.) seedlings during frozen storage. Furthermore, the sensitivity of the ColdNSure (TM) test, a gene activity test that predicts storability was assessed. The storability of seedlings was tested biweekly by evaluating damage with the gene activity test and the electrolyte leakage test after freezing seedlings to -25 A degrees C (the SELdiff-25 method). In parallel, seedlings were frozen stored at -3 A degrees C. According to both methods, seedlings were considered storable from week 41. This also corresponded to the post storage results determined at the end of the storage period. In order to identify vitality indicators, Next Generation Sequencing (NGS) was performed on bud samples collected during storage. Comparing physiological post storage data to gene analysis data revealed numerous vitality related genes. To validate the results, a second trial was performed. In this trial, gene activity was better in predicting seedling storability than the conventional freezing test; this indicates a high sensitivity level of this molecular assay. For multiple indicators a clear switch between damaged and vital seedlings was observed. A collection of indicators will be used in the future development of a commercial vitality test.