Palindromic repeats in the two <i>Aconitum</i> cp genomes.

<p>Palindromic repeats in the two <i>Aconitum</i> cp genomes.</p

Primers for SCAR marker development.

<p>Primers for SCAR marker development.</p

Distribution of SSRs in the two <i>Aconitum</i> cp genomes.

<p>(A) SSR type distribution in the two cp genomes. (B) The proportion of SSRs in different regions of the <i>Aconitum</i> cp genomes. (C) SSR distribution between coding and non-coding regions.</p

Molecular phylogenetic tree of 38 plants including 21 <i>Aconitum</i> species based on 70 protein-coding genes in the cp genome.

<p>The tree was constructed by maximum likelihood analysis using MEGA6 with a bootstrap test of 1,000 replications.</p

Size comparison of two <i>Aconitum</i> chloroplast genomic regions.

<p>Size comparison of two <i>Aconitum</i> chloroplast genomic regions.</p

Schematic representations of LSC, SSC, and IR border regions in the eight <i>Aconitum</i> species as well as in <i>N</i>. <i>tabacum</i> and <i>T</i>. <i>coreanum</i>.

<p>Schematic representations of LSC, SSC, and IR border regions in the eight <i>Aconitum</i> species as well as in <i>N</i>. <i>tabacum</i> and <i>T</i>. <i>coreanum</i>.</p

Circular gene map of the two <i>Aconitum</i> species.

<p>Genes drawn inside the circle are transcribed clockwise, and those outside the circle are transcribed counterclockwise. The darker gray in the inner circle corresponds to GC content.</p

The complete chloroplast genome sequence of <i>Aconitum coreanum</i> and <i>Aconitum carmichaelii</i> and comparative analysis with other <i>Aconitum</i> species

<div><p><i>Aconitum</i> species (belonging to the Ranunculaceae) are well known herbaceous medicinal ingredients and have great economic value in Asian countries. However, there are still limited genomic resources available for <i>Aconitum</i> species. In this study, we sequenced the chloroplast (cp) genomes of two <i>Aconitum</i> species, <i>A</i>. <i>coreanum</i> and <i>A</i>. <i>carmichaelii</i>, using the MiSeq platform. The two <i>Aconitum</i> chloroplast genomes were 155,880 and 157,040 bp in length, respectively, and exhibited LSC and SSC regions separated by a pair of inverted repeat regions. Both cp genomes had 38% GC content and contained 131 unique functional genes including 86 protein-coding genes, eight ribosomal RNA genes, and 37 transfer RNA genes. The gene order, content, and orientation of the two <i>Aconitum</i> cp genomes exhibited the general structure of angiosperms, and were similar to those of other <i>Aconitum</i> species. Comparison of the cp genome structure and gene order with that of other <i>Aconitum</i> species revealed general contraction and expansion of the inverted repeat regions and single copy boundary regions. Divergent regions were also identified. In phylogenetic analysis, <i>Aconitum</i> species positon among the Ranunculaceae was determined with other family cp genomes in the Ranunculales. We obtained a barcoding target sequence in a divergent region, <i>ndhC</i>–<i>trnV</i>, and successfully developed a SCAR (sequence characterized amplified region) marker for discrimination of <i>A</i>. <i>coreanum</i>. Our results provide useful genetic information and a specific barcode for discrimination of <i>Aconitum</i> species.</p></div

Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts

Background: Genetic factors influence chronic obstructive pulmonary disease (COPD) risk, but the individual variants that have been identified have small effects. We hypothesised that a polygenic risk score using additional variants would predict COPD and associated phenotypes.Methods: We constructed a polygenic risk score using a genome wide association study of lung function (FEV1 and FEV1/forced vital capacity [FVC]) from the UK Biobank and SpiroMeta. We tested this polygenic risk score in nine cohorts of multiple ethnicities for an association with moderate-to-severe COPD (defined as FEV1/FVC Findings: The polygenic risk score was associated with COPD in European (odds ratio [OR] per SD 1·81 [95% CI 1·74–1·88] and non-European (1·42 [1·34–1·51]) populations. Compared with the first decile, the tenth decile of the polygenic risk score was associated with COPD, with an OR of 7·99 (6·56–9·72) in European ancestry and 4·83 (3·45–6·77) in non-European ancestry cohorts. The polygenic risk score was superior to previously described genetic risk scores and, when combined with clinical risk factors (ie, age, sex, and smoking pack-years), showed improved prediction for COPD compared with a model comprising clinical risk factors alone (AUC 0·80 [0·79–0·81] vs 0·76 [0·75 0·76]). The polygenic risk score was associated with CT imaging phenotypes, including wall area percent, quantitative and qualitative measures of emphysema, local histogram emphysema patterns, and destructive emphysema subtypes. The polygenic risk score was associated with a reduced lung growth pattern. Interpretation: A risk score comprised of genetic variants can identify a small subset of individuals at markedly increased risk for moderate-to-severe COPD, emphysema subtypes associated with cigarette smoking, and patterns of reduced lung growth.</div