Molecular identification of selected bees from the Indian Himalaya: A preliminary effort

DNA barcoding has largely been tested for a wide range of taxa and evidenced as a reliable and rapid molecular tool for species-level identification. The present study lends to generate 156 DNA barcodes, of which 141 belonged to 30 morphologically identified bees from the Indian Himalayan Regions (IHRs). The generated barcode data along with 84 sequences of global database distinctly discriminated all the studied species with sufficient genetic distances and cohesive monophyletic clustering in Bayesian analysis (BA) phylogeny. The species delimitation methods, Automatic Barcode Gap Discovery (ABGD), Bayesian Poisson-Tree-Processes (bPTP), and General Mixed Yule-coalescent (GMYC) yielded 68, 70, and 71 molecular operational taxonomic units (MOTUs) respectively. The present DNA barcode-based examination detected the possible cryptic diversity in two Apis species (A. cerana and A. dorsata), Bombus hypnorum, Lepidotrigona arcifera, and Ceratina sutepensis. The present study also evidenced the species complexes within Bombus albopleuralis and Bombus trifasciatus in the IHRs. The species delimitation methods also detected an additional seven putative species from the IHRs, which were identified up to the genus level. In conclusion, this preliminary effort helps to develop a reliable barcode database of bees from the Indian IHRs to facilitate the future systematics study. These molecular data can be utilized to evaluate the population structures and assist to formulate the effective plans for bee conservation.     

A Bayes factor approach with informative prior for rare genetic variant analysis from next generation sequencing data

The discovery of rare genetic variants through next generation sequencing is a very challenging issue in the field of human genetics. We propose a novel region‐based statistical approach based on a Bayes Factor (BF) to assess evidence of association between a set of rare variants (RVs) located on the same genomic region and a disease outcome in the context of case‐control design. Marginal likelihoods are computed under the null and alternative hypotheses assuming a binomial distribution for the RV count in the region and a beta or mixture of Dirac and beta prior distribution for the probability of RV. We derive the theoretical null distribution of the BF under our prior setting and show that a Bayesian control of the false Discovery Rate can be obtained for genome‐wide inference. Informative priors are introduced using prior evidence of association from a Kolmogorov‐Smirnov test statistic. We use our simulation program, sim1000G, to generate RV data similar to the 1000 genomes sequencing project. Our simulation studies showed that the new BF statistic outperforms standard methods (SKAT, SKAT‐O, Burden test) in case‐control studies with moderate sample sizes and is equivalent to them under large sample size scenarios. Our real data application to a lung cancer case‐control study found enrichment for RVs in known and novel cancer genes. It also suggests that using the BF with informative prior improves the overall gene discovery compared to the BF with noninformative prior.     

Evaluating human autosomal loci for sexually antagonistic viability selection in two large biobanks

Sex and sexual differentiation are pervasive across the tree of life. Because females and males often have substantially different functional requirements, we expect selection to differ between the sexes. Recent studies in diverse species, including humans, suggest that sexually antagonistic viability selection creates allele frequency differences between the sexes at many different loci. However, theory and population-level simulations indicate that sex-specific differences in viability would need to be very large to produce and maintain reported levels of between-sex allelic differentiation. We address this contradiction between theoretical predictions and empirical observations by evaluating evidence for sexually antagonistic viability selection on autosomal loci in humans using the largest cohort to date (UK Biobank, n = 487,999) along with a second large, independent cohort (BioVU, n = 93,864). We performed association tests between genetically ascertained sex and autosomal loci. Although we found dozens of genome-wide significant associations, none replicated across cohorts. Moreover, closer inspection revealed that all associations are likely due to cross-hybridization with sex chromosome regions during genotyping. We report loci with potential for mis-hybridization found on commonly used genotyping platforms that should be carefully considered in future genetic studies of sex-specific differences. Despite being well powered to detect allele frequency differences of up to 0.8% between the sexes, we do not detect clear evidence for this signature of sexually antagonistic viability selection on autosomal variation. These findings suggest a lack of strong ongoing sexually antagonistic viability selection acting on single locus autosomal variation in humans.     

A Multicenter Study of Viral Aetiology of Community-Acquired Pneumonia in Hospitalized Children in Chinese Mainland

Virologica Sinica - Community-acquired pneumonia (CAP) is one of the leading causes of morbidity and mortality in children worldwide. In this study, we aimed to describe the aetiology of viral...     

吗啡皮下自控镇痛泵治疗难治性癌痛的前瞻性多中心随机对照研究

摘要 目的：观察吗啡皮下自控镇痛泵治疗难治性癌痛的临床疗效。方法：采用前瞻性多中心随机对照研究,应用治疗方法分为试验组和对照组,其中试验组使用皮下自控阵痛泵给药,对照组口服吗啡片剂,5 d为一疗程,共计观察3疗程。观察两组患者治疗后疼痛积分改善情况;每疗程吗啡日均用量;疼痛起效时间、最佳缓解时间;镇痛维持时间及剂量稳定天数、爆发痛情况;生活质量改善及不良反应发生率;疗程费用情况。结果：两组患者数字疼痛评分法(numerical rating scale,NRS)评分在治疗后均较镇痛前显著降低（P＜0.05）;在吗啡用量比较方面,试验组吗啡用量显著低于对照组同期用量;试验组在疼痛缓解时间、疼痛最佳缓解时间方面均显著优于对照组;治疗期间试验组平均镇痛维持时间明显长于对照组（P＜0.05）;两组患者治疗后体力状况分析标准(performance status,PS)评分较治疗前显著改善;试验组便秘、嗜睡不良反应发生率显著低于对照组（P＜0.05）。试验组每疗程费用明显低于对照组,具有明显经济优势。结论：吗啡皮下自控镇痛泵给药方式控制难治性癌痛临床疗效确切,止痛效果明显。与对照组比较,疼痛起效时间短,疗程较吗啡用量少,不良反应发生率低,改善了患者生活质量,且减轻了患者经济压力。