13 research outputs found

    The vanin-1 expression in human plasma samples is closely linked with both genotypic N131S mutation and phenotypic HTN.

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    <p>Human plasma samples were collected from 6 HTN patients with WT <i>VNN1</i> (samples 1 to 6), 6 HTN patients with homozygous N131S <i>VNN1</i> (samples 7 to 12), 6 healthy controls with WT <i>VNN1</i> (samples 13 to 18), and 6 healthy controls with homozygous N131S <i>VNN1</i> (samples 19 to 24). Same amount of total plasma proteins were subjected to 8% SDS-PAGE and Western blot analysis; transferrin serves as loading control. (<b>A</b>). IB: immunoblotting. WT: wild type. The vanin-1 protein band intensity was quantified using ImageJ software from the NIH, shown in (<b>B</b>). NS: not significant. Data are reported as mean ± SEM.</p

    Meta-analysis results of the COGENT cohorts data for SNP rs2272996 (N131S).

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    <p>The effect size (beta) is presented in terms of the reference allele A1 for the SNP of interest. SE: standard error. CI: confidence interval.</p>a<p>All COGENT cohorts were included in the meta-analysis. This SNP (rs2272996) was not available in GeneSTAR.</p>b<p>Maywood cohort was excluded from the meta-analysis.</p><p>Meta-analysis results of the COGENT cohorts data for SNP rs2272996 (N131S).</p

    Age-dependent BMI loci.

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    <p>Effect estimates (beta ±95CI) per standard deviation in BMI and risk allele for loci showing age-differences in men & women ≀50y compared to men & women >50y. Loci are ordered by greater magnitude of effect in men & women ≀50y compared to men & women >50y. (95%CI: 95% confidence interval; BMI: body mass index; SD: standard deviation, *Newly identified loci).</p

    Forty-four WHR<sub>adjBMI</sub> loci showing significant sex-differences.

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    <p>Chr: Chromosome; Pos: position; EAF: Effect Allele Frequency; EA: Effect allele; OA: Other allele</p><p><sup>a</sup> ‘Yes’ if the locus is mentioned as WHR<sub>adjBMI</sub> locus for the first time</p><p><sup>b</sup> ‘Yes’ if the sex-difference in the effect on WHR<sub>adjBMI</sub> is reported for the first time</p><p><sup>c</sup> Effect allele is according to the WHR<sub>adjBMI</sub> increasing allele according to the associated sex.</p><p>The table shows the sex-specific (age-group combined) results, ordered by largest, positive effect in women to largest, negative effect in women. The age- and sex-specific results (four strata), more detailed information on the loci and on the screens for which they were detected are given in <b><a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005378#pgen.1005378.s021" target="_blank">S5 Table</a></b>.</p

    Power heatplots.

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    <p>Power for the combination of screens and gain through a priori filtering for varying configurations of effect sizes across the 4 strata. The figures illustrate (A) the power to detect age-difference, sex-difference or age-sex-difference in at least one of our scans (on <i>P</i><sub><i>agediff</i></sub>, <i>P</i><sub><i>sexdiff</i></sub> and <i>P</i><sub><i>agesexdiff</i></sub>, with and without a priori filtering); and (B) a power comparison, comparing approaches with and without a priori filtering on <i>P</i><sub><i>Overall</i></sub> < 1x10<sup>-5</sup>. We here assume four equally sized strata and a total sample size of N = 300,000 (comparable to the sample size in our BMI analyses). We set b<sub>F≀50y</sub> = 0.033 (corresponding to a known and mean BMI effect in <i>MAP2K5</i> region with R<sup>2</sup> = 0.037%), b<sub>M>50y</sub> = 0, and vary b<sub>F>50y</sub> and b<sub>M≀50</sub> on the axes. This strategy allows us to cover the most interesting and plausible interaction effects: Two-way interactions, such as (i) pure age-difference (b<sub>≀50y</sub> = 0.033, b<sub>>50y</sub> = 0) and (ii) pure sex-difference (b<sub>F</sub> = 0.033, b<sub>M</sub> = 0); and three-way interactions, such as (iii) extreme three-way interaction with opposite direction across AGE and SEX, (iv) 1-strata interaction (b<sub>F≀50y</sub> = 0.033, b<sub>F>50y</sub> = b<sub>M≀50y</sub> = b<sub>M>50y</sub> = 0), and (v) 3-strata interaction (b<sub>F≀50y</sub> = b<sub>F>50y</sub> = b<sub>M≀50y</sub> = 0.033, b<sub>M>50y</sub> = 0).</p

    Fifteen BMI loci showing significant age-differences in adults ≀50y compared to adults >50y.

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    <p>Chr: Chromosome; Pos: position; EAF: Effect Allele Frequency; EA: Effect allele; OA: Other allele</p><p><sup>a</sup> ‘Yes’ if the locus is mentioned as BMI locus for the first time</p><p><sup>b</sup> Effect allele is according to the BMI increasing allele according to the associated sex.</p><p>The table shows the age-group specific (sex-combined) results, ordered by largest to smallest effect in adults ≀50y. All loci were detected by the screen on age-difference that included the a-priori filter on <i>P</i><sub><i>Overall</i></sub> < 10<sup>−5</sup>. The age- and sex-specific results (four strata) and more detailed information on the loci are given in <b><a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005378#pgen.1005378.s020" target="_blank">S4 Table</a></b>.</p
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