Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads

<p>Abstract</p> <p>Background</p> <p>Spontaneous preterm delivery (PTD) has a multifactorial etiology with evidence of a genetic contribution to its pathogenesis. A number of candidate gene case-control studies have been performed on spontaneous PTD, but the results have been inconsistent, and do not fully assess the role of how two genotypes can impact outcome. To elucidate this latter point we re-analyzed data from a previously published case-control candidate gene study, using a case-parent triad design and a hybrid design combining case-parent triads and control-mother dyads. These methods offer a robust approach to genetic association studies for PTD compared to traditional case-control designs.</p> <p>Methods</p> <p>The study participants were obtained from the Norwegian Mother and Child Cohort Study (MoBa). A total of 196 case triads and 211 control dyads were selected for the analysis. A case-parent triad design as well as a hybrid design was used to analyze 1,326 SNPs from 159 candidate genes. We compared our results to those from a previous case-control study on the same samples. Haplotypes were analyzed using a sliding window of three SNPs and a pathway analysis was performed to gain biological insight into the pathophysiology of preterm delivery.</p> <p>Results</p> <p>The most consistent significant fetal gene across all analyses was COL5A2. The functionally similar COL5A1 was significant when combining fetal and maternal genotypes. PON1 was significant with analytical approaches for single locus association of fetal genes alone, but was possibly confounded by maternal effects. Focal adhesion (hsa04510), Cell Communication (hsa01430) and ECM receptor interaction (hsa04512) were the most constant significant pathways.</p> <p>Conclusion</p> <p>This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous PTD. In addition, the pathway analysis implied interactions of genes affecting cell communication and extracellular matrix.</p

Genetic Variation in Functional Traits Influences Arthropod Community Composition in Aspen (Populus tremula L.)

We conducted a study of natural variation in functional leaf traits and herbivory in 116 clones of European aspen, Populus tremula L., the Swedish Aspen (SwAsp) collection, originating from ten degrees of latitude across Sweden and grown in a common garden. In surveys of phytophagous arthropods over two years, we found the aspen canopy supports nearly 100 morphospecies. We identified significant broad-sense heritability of plant functional traits, basic plant defence chemistry, and arthropod community traits. The majority of arthropods were specialists, those coevolved with P. tremula to tolerate and even utilize leaf defence compounds. Arthropod abundance and richness were more closely related to plant growth rates than general chemical defences and relationships were identified between the arthropod community and stem growth, leaf and petiole morphology, anthocyanins, and condensed tannins. Heritable genetic variation in plant traits in young aspen was found to structure arthropod community; however no single trait drives the preferences of arthropod folivores among young aspen genotypes. The influence of natural variation in plant traits on the arthropod community indicates the importance of maintaining genetic variation in wild trees as keystone species for biodiversity. It further suggests that aspen can be a resource for the study of mechanisms of natural resistance to herbivores

Temperate and boreal forest tree phenology: from organ-scale processes to terrestrial ecosystem models

International audienceAbstractKey messageWe demonstrate that, beyond leaf phenology, the phenological cycles of wood and fine roots present clear responses to environmental drivers in temperate and boreal trees. These drivers should be included in terrestrial ecosystem models.ContextIn temperate and boreal trees, a dormancy period prevents organ development during adverse climatic conditions. Whereas the phenology of leaves and flowers has received considerable attention, to date, little is known regarding the phenology of other tree organs such as wood, fine roots, fruits, and reserve compounds.AimsHere, we review both the role of environmental drivers in determining the phenology of tree organs and the models used to predict the phenology of tree organs in temperate and boreal forest trees.ResultsTemperature is a key driver of the resumption of tree activity in spring, although its specific effects vary among organs. There is no such clear dominant environmental cue involved in the cessation of tree activity in autumn and in the onset of dormancy, but temperature, photoperiod, and water stress appear as prominent factors. The phenology of a given organ is, to a certain extent, influenced by processes in distant organs.ConclusionInferring past trends and predicting future trends of tree phenology in a changing climate requires specific phenological models developed for each organ to consider the phenological cycle as an ensemble in which the environmental cues that trigger each phase are also indirectly involved in the subsequent phases. Incorporating such models into terrestrial ecosystem models (TEMs) would likely improve the accuracy of their predictions. The extent to which the coordination of the phenologies of tree organs will be affected in a changing climate deserves further research