3 research outputs found

    Morphological variability of the Bulgarian endemic Betonica bulgarica Degen et Neič. (Lamiaceae) from Sinite Kamani Natural Park, Eastern Balkan Range

    Get PDF
    Four populations of Betonica bulgarica Degen et Neič. at Sinite Kamani Natural Park were morphologically tested. Intrapopulation and interpopulation variabilities were established. The rеlationship between morphological variability, number, area and ecological appurtenance of the studied populations were explored. The results demonstrated that the main source of phenotype variation is intrapopulation variability, mainly due to the age structure of populations. The most variable traits are height of stem and dimensions of leaves. The registered interpopulation variability was affected by the differences in altitude, soil type and differences in environmental conditions and soil properties. Indumentum and morphology of generative organs had taxonomic signifi cance for distinguishing B. bulgarica from the other species in the genus, including the species that were morphologically most similar to it – Betonica officinalis L

    Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

    No full text
    Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely obese children and 1,117 controls. We identified 52 variants contributing to obesity in 2% of cases including multiple novel variants in GNAS, which were sometimes found with accelerated growth rather than short stature as describedw previously. Nominally significant associations were found for rare functional variants in BBS1, BBS9, GNAS, MKKS, CLOCK and ANGPTL6. The p.S284X variant in ANGPTL6 drives the association signal (rs201622589, MAF∼0.1%, odds ratio = 10.13, p-value = 0.042) and results in complete loss of secretion in cells. Further analysis including additional case-control studies and population controls (N = 260,642) did not support association of this variant with obesity (odds ratio = 2.34, p-value = 2.59 × 10-3), highlighting the challenges of testing rare variant associations and the need for very large sample sizes. Further validation in cohorts with severe obesity and engineering the variants in model organisms will be needed to explore whether human variants in ANGPTL6 and other genes that lead to obesity when deleted in mice, do contribute to obesity. Such studies may yield druggable targets for weight loss therapies
    corecore