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Strong associations between neural tube defects (NTDs) and monozygotic (MZ) twinning have long been noted, and it has been suggested that NTD cases who do not present as MZ twins may be the survivors of MZ twinning events. We have recently shown that MZ twins carry a strong, distinctive DNA methylation signature and have developed an algorithm based on genomewide DNA methylation array data that distinguishes MZ twins from dizygotic twins and other relatives at well above chance level. We have applied this algorithm to published methylation data from five fetal tissues (placental chorionic villi, kidney, spinal cord, brain and muscle) collected from spina bifida cases (n = 22), anencephalic cases (n = 15) and controls (n = 19). We see no difference in signature between cases and controls, providing no support for a common etiological role of MZ twinning in NTDs. The strong associations therefore continue to await elucidation.
Previous genetic association studies have failed to identify loci robustly associated with sepsis, and there have been no published genetic association studies or polygenic risk score analyses of patients with septic shock, despite evidence suggesting genetic factors may be involved. We systematically collected genotype and clinical outcome data in the context of a randomized controlled trial from patients with septic shock to enrich the presence of disease-associated genetic variants. We performed genomewide association studies of susceptibility and mortality in septic shock using 493 patients with septic shock and 2442 population controls, and polygenic risk score analysis to assess genetic overlap between septic shock risk/mortality with clinically relevant traits. One variant, rs9489328, located in AL589740.1 noncoding RNA, was significantly associated with septic shock (p = 1.05 × 10–10); however, it is likely a false-positive. We were unable to replicate variants previously reported to be associated (p < 1.00 × 10–6 in previous scans) with susceptibility to and mortality from sepsis. Polygenic risk scores for hematocrit and granulocyte count were negatively associated with 28-day mortality (p = 3.04 × 10–3; p = 2.29 × 10–3), and scores for C-reactive protein levels were positively associated with susceptibility to septic shock (p = 1.44 × 10–3). Results suggest that common variants of large effect do not influence septic shock susceptibility, mortality and resolution; however, genetic predispositions to clinically relevant traits are significantly associated with increased susceptibility and mortality in septic individuals.
Reading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7–73.2 years of age, N = 1505) in which we obtained data using validated measures of several aspects of reading and language abilities. We performed genetic association analysis for a reading and spelling composite score, nonword reading (assessing phonological processing: a core component in learning to read), phonetic spelling, self-reported reading impairment and nonword repetition (a marker of language ability). Given the limited power in a sample of this size (~80% power to find a minimum effect size of 0.005), we focused on analyzing candidate genes that have been associated with dyslexia and developmental speech and language disorders in prior studies. In gene-based tests, FOXP2, a gene implicated in speech/language disorders, was associated with nonword repetition (p < .001), phonetic spelling (p = .002) and the reading and spelling composite score (p < .001). Gene-set analyses of candidate dyslexia and speech/language disorder genes were not significant. These findings contribute to the assessment of genetic associations in reading and language disorders, crucial for understanding their etiology and informing intervention strategies, and validate the approach of using unselected adult samples for gene discovery in language and reading.
The Taipan galaxy survey (hereafter simply ‘Taipan’) is a multi-object spectroscopic survey starting in 2017 that will cover 2π steradians over the southern sky (δ ≲ 10°, |b| ≳ 10°), and obtain optical spectra for about two million galaxies out to z < 0.4. Taipan will use the newly refurbished 1.2-m UK Schmidt Telescope at Siding Spring Observatory with the new TAIPAN instrument, which includes an innovative ‘Starbugs’ positioning system capable of rapidly and simultaneously deploying up to 150 spectroscopic fibres (and up to 300 with a proposed upgrade) over the 6° diameter focal plane, and a purpose-built spectrograph operating in the range from 370 to 870 nm with resolving power R ≳ 2000. The main scientific goals of Taipan are (i) to measure the distance scale of the Universe (primarily governed by the local expansion rate, H0) to 1% precision, and the growth rate of structure to 5%; (ii) to make the most extensive map yet constructed of the total mass distribution and motions in the local Universe, using peculiar velocities based on improved Fundamental Plane distances, which will enable sensitive tests of gravitational physics; and (iii) to deliver a legacy sample of low-redshift galaxies as a unique laboratory for studying galaxy evolution as a function of dark matter halo and stellar mass and environment. The final survey, which will be completed within 5 yrs, will consist of a complete magnitude-limited sample (i ⩽ 17) of about 1.2 × 106 galaxies supplemented by an extension to higher redshifts and fainter magnitudes (i ⩽ 18.1) of a luminous red galaxy sample of about 0.8 × 106 galaxies. Observations and data processing will be carried out remotely and in a fully automated way, using a purpose-built automated ‘virtual observer’ software and an automated data reduction pipeline. The Taipan survey is deliberately designed to maximise its legacy value by complementing and enhancing current and planned surveys of the southern sky at wavelengths from the optical to the radio; it will become the primary redshift and optical spectroscopic reference catalogue for the local extragalactic Universe in the southern sky for the coming decade.
Bipolar disorder is a highly heritable polygenic disorder. Recent
enrichment analyses suggest that there may be true risk variants for
bipolar disorder in the expression quantitative trait loci (eQTL) in the
We sought to assess the impact of eQTL variants on bipolar disorder risk
by combining data from both bipolar disorder genome-wide association
studies (GWAS) and brain eQTL.
To detect single nucleotide polymorphisms (SNPs) that influence
expression levels of genes associated with bipolar disorder, we jointly
analysed data from a bipolar disorder GWAS (7481 cases and 9250 controls)
and a genome-wide brain (cortical) eQTL (193 healthy controls) using a
Bayesian statistical method, with independent follow-up replications. The
identified risk SNP was then further tested for association with
hippocampal volume (n = 5775) and cognitive performance
(n = 342) among healthy individuals.
Integrative analysis revealed a significant association between a brain
eQTL rs6088662 on chromosome 20q11.22 and bipolar disorder (log Bayes
factor = 5.48; bipolar disorder P =
5.85×10–5). Follow-up studies across multiple independent
samples confirmed the association of the risk SNP (rs6088662) with gene
expression and bipolar disorder susceptibility (P =
3.54×10–8). Further exploratory analysis revealed that
rs6088662 is also associated with hippocampal volume and cognitive
performance in healthy individuals.
Our findings suggest that 20q11.22 is likely a risk region for bipolar
disorder; they also highlight the informative value of integrating
functional annotation of genetic variants for gene expression in
advancing our understanding of the biological basis underlying complex
disorders, such as bipolar disorder.
The genetic basis of cardiovascular disease (CVD) is complex and still largely elusive. Plasma lipid concentrations are well-established risk factors for cardiovascular disease (CVD), and have adult heritabilities ranging from 0.48 to 0.87. Estimates for adolescents are slightly higher (range 0.71 to 0.82). To identify loci affecting lipid concentrations across adolescence, we analyzed longitudinal lipid data in a sample of 134 monozygotic and 626 dizygotic twin pairs at ages twelve, fourteen and sixteen, and their siblings, from 760 Australian families. Univariate linkage analysis for each phenotype and time point was supplemented by multivariate analysis across the time points. A genome-wide association scan was also performed on a subset of the subjects (N = 441). The strongest linkage was seen for triglycerides on chromosome 6p24.3 (multivariate –log10p = 6.81; equivalent LOD = 6.13; p = 1.55 × 10–7). Significant linkage was also found for LDL cholesterol on chromosome 2q35 (multivariate –log10p = 5.59; equivalent LOD = 4.53; p = 2.57 × 10–6). In the association analysis, rs10503840 on 8p21.1 was significantly associated with total cholesterol levels at age fourteen (p = 8.24 × 10–7, estimated significance threshold 2.45 × 10–6). Association at p < 2.25 × 10–6 was also found between triglycerides at age 12 and rs10507266, in an intron of THRAP2 (MIM 608771) on 12q24.21; and between HDL-C at age 14 and rs10506325 in an intergenic region of 12q13.13. Suggestive evidence of association at ages twelve and fourteen was found between HDL-C and rs10492859 on 16q23 (p = 2.42 × 10–5 and 2.77 × 10–4, respectively). Further longitudinal genetic studies of cardiovascular risk factors, focused on critical periods of development or change, are needed.
Self-rated health questions have been proven to be a highly reliable and valid measure of overall health as measured by other indicators in many population groups. It also has been shown to be a very good predictor of mortality, chronic or severe diseases, and the need for services, and is positively correlated with clinical assessments. Genetic factors have been estimated to account for 25–64% of the variance in the liability of self-rated health. The aim of the present study was to identify Single Nucleotide Polymorphisms (SNPs) underlying the heritability of self-rated health by conducting a genome-wide association analysis in a large sample of 6,706 Australian individuals aged 18–92. No genome wide significant SNPs associated with self-rated health could be identified, indicating that self-rated health may be influenced by a large number of SNPs with very small effect size. A very large sample will be needed to identify these SNPs.
A high degree of variable growth rate between pigs of the same age has been associated with overall poor herd performance and decreased profitability (Magowan et al., 2007). The aim of the current study was to reduce the variation in growth rate between pigs by grouping them in either uniform or mixed weight groups at weaning and offering them either ‘special’ or ‘normal’ dietary regimes during the post weaning and finishing periods.
The production of fuel from renewable energy sources has generated increasing interest in recent years and biofuel production is being encouraged within the United Kingdom. If current government targets are to be met, approximately 2.7 million tonnes of oil seed rape are needed to supply biodiesel which will result in a significant amount of the by-product glycerol. Glycerol may be a useful source of energy in diets for pigs but there is limited research on the optimum level of inclusion, digestible energy (DE) content or on the effect on performance. Research by Mourot et al (1994) suggested that glycerol tended to reduce performance but significantly improved meat quality as assessed by drip loss. The aim of this study was to investigate the effect of glycerol inclusion in finishing pig diets on performance and meat quality.
Multisystemic therapy (MST) is a highly individualised family- and home-based treatment that has successfully served as a clinically effective and
cost-effective alternative to out-of-home placements (e.g., incarceration,
psychiatric hospitalisation) for youth presenting serious clinical problems.
MST clinical procedures are reviewed and two extensive case summaries
are used to explicate the MST intervention process for treating serious
antisocial behaviour and modifications in that process needed to safely
and effectively serve youth presenting psychiatric emergencies.
An annual legume cover crop was evaluated in pecan orchards to increase coccinellids that would reduce pecan aphids. Treatments were a ‘Dixie’ crimson clover and hairy vetch mixture and a grass sod. Coccinellids were abundant on the legume ground covers, but coccinellid density in the tree canopy was rarely affected by ground cover treatment. There were substantial differences between the coccinellid species collected from the legumes and from the trees. In Oklahoma, Olla v-nigrum (Mulsant) and Cycloneda munda (Say) were the main species in the trees, while Hippodamia convergens Guerin, Coccinella septempunctata L, and Coleomegilla maculata lengi Timberlake were dominant species in the legumes. In Georgia, Harmonia axyridis (Pallas) was the dominant species in the trees, and C. septempunctata in the legumes. Pecan aphids at two Oklahoma sites usually were not affected by cover crop treatment, but at the Georgia site, early-season aphids frequently were lower with a legume cover crop than with a grass sod. The accumulated effect of all aphid predators and parasitoids attracted to the legume aphids may have reduced the density of the pecan aphid.
ac Susceptometry has been used to study a number of magnetic molecular solids including a new compound, Mn(II) octaethyltetraazaporphyrin, α-MnOETAP, and decamethylmanganocenium tetracyanoethenide, Mn(Cp*)2•TCNE, a previously reported molecule-based ferromagnet. Both of these compounds exhibit signatures of ferromagnetism including significant hysteresis below 2 K and rapidly increasing χT (where χ is the molar susceptibility) with decreasing temperature. However, their ac susceptibility data show relatively strong dependence of χ′ and χ″ on the frequency of the applied field, indicating a spinglass state. Other molecular ferromagnetic solids examined show much less sensitivity. These studies indicate that the standard practice of characterization by dc and ac susceptometry at a single frequency are clearly insufficient for identifying the magnetic state of a molecular solid.
We evaluated selected cool-season annual and perennial legumes as potential ground covers to supply nitrogen and to increase beneficial arthropod populations in a pecan orchard. Densities of aphids (Homoptera: Aphididae), lady beetles (Coleoptera: Coccinellidae), damsel bug (Hemiptera: Nabidae), green lacewings (Neuroptera: Chrysopidae), brown lacewings (Neuroptera: Hemerobiidae), hover flies (Diptera: Syrphidae), spined soldier bug and other stink bugs (Hemiptera: Pentatomidae), and spiders (Araneida) were monitored at 7–14 day intervals during the growing season for three years. Aboveground biomass production and nitrogen content of the legumes was measured for two years. Aphids peaked during early spring each year, with the highest density usually on ‘Dixie’ crimson clover and ‘Kenland’ red clover. Density of lady beetles was positively correlated with that of aphids, but spider densities were not. Other arthropods usually were not abundant. Nitrogen in the tops of the annual legumes ranged from 20 kg/ha to 89 kg/ha when assessed after a single harvest at anthesis; for the perennial legumes it was from 108 kg/ha to 179 kg/ha following two harvests in June and September. We chose two annual legumes (‘Dixie’ crimson clover and hairy vetch) and two perennial legumes (‘Louisiana S-1’ white clover and ‘Kenland’ red clover) for further evaluation.
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