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1.
The study of ten thin sections from outcrops from Lower Cretaceous deposits and several thin sections obtained from three petroleum wells, allow us to better characterize the associations of calpionellid zones and subzones of the Berriasian and Lower Valanginian in northern Tunisia. The B and C zones, respectively, show three and two levels with calpionellid associations corresponding to B1, B2, B3 and C1, C2 subzones. In the D zone, associations of the D1 and D2 subzones were identified. The E zone has been characterized for the first time in Tunisia and in southern-Tethyan margin of North Africa, on the basis of its index specie and associated species.  相似文献   

2.
伴随着高通量测序技术的飞速发展,许多新型的非编码RNA陆续被发现,比如长链非编码RNA(lncRNA)和环状RNA(Circular RNA)。先前的研究已经表明这些非编码RNA在基因表达调控过程中起着很重要的作用,并且与癌症的发生有着很密切的联系。但是,由于研究者们仍然对它们行使何种功能知之甚少,鉴定这些非编码RNA是否与人类癌症存在密切的相互关系仍然是一个巨大的挑战。为了促进这一领域的研究,这篇文章的作者分析了大规模的RNA相互作用数据,然后建立了数据库nc2Cancer(http://www.bioinfo.tsinghua.edu.cn/nc2Cancer/index.php)。这个数据库的目标便是提供非编码RNA与癌症之间的全面关系。现在,该nc2Cancer数据库包括了三种类型的非编码RNA分子:长链非编码RNA,环状RNA以及由假基因转录而成的RNA。这项研究将有助于研究者更好地去理解非编码RNA的功能以及它们在人类癌症发生过程中所起到的作用。  相似文献   

3.
We conducted a genome-wide linkage scan and positional association study to identify genes and variants influencing blood lipid levels among participants of the Genetic Epidemiology Network of Salt-Sensitivity(Gen Salt) study. The Gen Salt study was conducted among1906 participants from 633 Han Chinese families. Lipids were measured from overnight fasting blood samples using standard methods.Multipoint quantitative trait genome-wide linkage scans were performed on the high-density lipoprotein, low-density lipoprotein, and logtransformed triglyceride phenotypes. Using dense panels of single nucleotide polymorphisms(SNPs), single-marker and gene-based association analyses were conducted to follow-up on promising linkage signals. Additive associations between each SNP and lipid phenotypes were tested using mixed linear regression models. Gene-based analyses were performed by combining P-values from singlemarker analyses within each gene using the truncated product method(TPM). Significant associations were assessed for replication among777 Asian participants of the Multi-ethnic Study of Atherosclerosis(MESA). Bonferroni correction was used to adjust for multiple testing.In the Gen Salt study, suggestive linkage signals were identified at 2p11.2-2q12.1 [maximum multipoint LOD score(MML)=2.18 at2q11.2] and 11q24.3-11q25(MML=2.29 at 11q25) for the log-transformed triglyceride phenotype. Follow-up analyses of these two regions revealed gene-based associations of charged multivesicular body protein 3(CHMP3), ring finger protein 103(RNF103),AF4/FMR2 family, member 3(AFF3), and neurotrimin(NTM) with triglycerides(P=4 10 4, 1.00 10 5, 2.00 10 5, and1.00 10 7, respectively). Both the AFF3 and NTM triglyceride associations were replicated among MESA study participants(P=1.00 10 7and 8.00 10 5, respectively). Furthermore, NTM explained the linkage signal on chromosome 11. In conclusion, we identified novel genes associated with lipid phenotypes in linkage regions on chromosomes 2 and 11.  相似文献   

4.
Using a phenome-wide association study (PheWAS) approach, we comprehensively tested genetic variants for association with phenotypes available for 70,061 study participants in the Population Architecture using Genomics and Epidemiology (PAGE) network. Our aim was to better characterize the genetic architecture of complex traits and identify novel pleiotropic relationships. This PheWAS drew on five population-based studies representing four major racial/ethnic groups (European Americans (EA), African Americans (AA), Hispanics/Mexican-Americans, and Asian/Pacific Islanders) in PAGE, each site with measurements for multiple traits, associated laboratory measures, and intermediate biomarkers. A total of 83 single nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) were genotyped across two or more PAGE study sites. Comprehensive tests of association, stratified by race/ethnicity, were performed, encompassing 4,706 phenotypes mapped to 105 phenotype-classes, and association results were compared across study sites. A total of 111 PheWAS results had significant associations for two or more PAGE study sites with consistent direction of effect with a significance threshold of p<0.01 for the same racial/ethnic group, SNP, and phenotype-class. Among results identified for SNPs previously associated with phenotypes such as lipid traits, type 2 diabetes, and body mass index, 52 replicated previously published genotype–phenotype associations, 26 represented phenotypes closely related to previously known genotype–phenotype associations, and 33 represented potentially novel genotype–phenotype associations with pleiotropic effects. The majority of the potentially novel results were for single PheWAS phenotype-classes, for example, for CDKN2A/B rs1333049 (previously associated with type 2 diabetes in EA) a PheWAS association was identified for hemoglobin levels in AA. Of note, however, GALNT2 rs2144300 (previously associated with high-density lipoprotein cholesterol levels in EA) had multiple potentially novel PheWAS associations, with hypertension related phenotypes in AA and with serum calcium levels and coronary artery disease phenotypes in EA. PheWAS identifies associations for hypothesis generation and exploration of the genetic architecture of complex traits.  相似文献   

5.
Malting quality is an important trait in breeding barley (Hordeum vulgare L.). It requires elaborate, expensive phenotyping, which involves micro-malting experiments. Although there is abundant historical information available for different cultivars in different years and trials, that historical information is not often used in genetic analyses. This study aimed to exploit historical records to assist in identifying genomic regions that affect malting and kernel quality traits in barley. This genome-wide association study utilized information on grain yield and 18 quality traits accumulated over 25 years on 174 European spring and winter barley cultivars combined with diversity array technology markers. Marker-trait associations were tested with a mixed linear model. This model took into account the genetic relatedness between cultivars based on principal components scores obtained from marker information. We detected 140 marker-trait associations. Some of these associations confirmed previously known quantitative trait loci for malting quality (on chromosomes 1H, 2H, and 5H). Other associations were reported for the first time in this study. The genetic correlations between traits are discussed in relation to the chromosomal regions associated with the different traits. This approach is expected to be particularly useful when designing strategies for multiple trait improvements.  相似文献   

6.
Rice SH 《Genetics》2004,166(1):513-526
Statistical associations between phenotypic traits often result from shared developmental processes and include both covariation between the trait values and more complex associations between higher moments of the joint distribution of traits. In this article, an analytical technique for calculating the covariance between traits is presented on the basis of (1). the distribution of underlying genetic and environmental variation that jointly influences the traits and (2). the mechanics of how these underlying factors influence the development of each trait. It is shown that epistasis can produce patterns of covariation between traits that are not seen in additive models. Applying this approach to a trait in parents and the same trait in their offspring allows us to study the consequences of epistasis for the evolution of additive genetic variance and heritability. This analysis is then extended to the study of more complicated associations between traits. It is shown that even traits that are not correlated may exhibit developmental associations that influence their joint evolution.  相似文献   

7.
Our initial genome-wide association study (GWAS) demonstrated that two SNPs (ARS-BFGL-NGS-33248, UA-IFASA-9288) within the protein tyrosine kinase 2 (PTK2) gene were significantly associated with milk production traits in Chinese Holstein dairy cattle. To further validate if the statistical evidence provided in GWAS were true-positive findings, a replication study was performed herein through genotype-phenotype associations. The two tested SNPs were found to show significant associations with milk production traits, which confirmed the associations observed in the original study. Specifically, SNPs lying in the PTK2 gene were also detected by sequencing 14 unrelated sires in Chinese Holsteins and a total of thirty-three novel SNPs were identified. Thirteen out of these identified SNPs were genotyped and tested for association with milk production traits in an independent resource population. After Bonferroni correction for multiple testing, twelve SNPs were statistically significant for more than two milk production traits. Analyses of pairwise D’ measures of linkage disequilibrium (LD) between all SNPs were also explored. Two haplotype blocks were inferred and the association study at haplotype level revealed similar effects on milk production traits. In addition, the RNA expression analyses revealed that a non-synonymous coding SNP (g.4061098T>G) was involved in the regulation of gene expression. Thus the findings presented here provide strong evidence for associations of PTK2 variants with dairy production traits and may be applied in Chinese Holstein breeding program.  相似文献   

8.
Mapping and association studies of diabetes related genes in the pig   总被引:3,自引:0,他引:3  
The mitogen-activated protein kinase 8 (MAPK8), resistin (RETN), 11 beta hydroxysteroid dehydrogenase isoform 1 (HSD11B1) and protein kinase B Akt2 (AKT2) genes are all genes known to affect insulin signalling and have been implicated in the progression of obesity and type 2 diabetes in humans. In this study, polymorphisms in the porcine diabetes related MAPK8, RETN, HSD11B1 and AKT2 genes were identified, mapped and their associations with phenotypic measurements in swine were analysed. Polymorphisms detected in the MAPK8, RETN and HSD11B1 loci were used to genotype a Berkshire-Yorkshire pig breed reference family. Using linkage analysis, RETN, HSD11B1 and MAPK8 genes were mapped to pig chromosomes 2, 9 and 14, respectively, while the AKT2 gene was physically mapped to pig chromosome 6q21. Results presented here suggest associations between the polymorphisms in the MAPK8, RETN and HSD11B1 genes with several phenotypic measurements, including fat deposition traits in the pig. Because these genes have been implicated in obesity and diabetes in humans, and this study suggests associations with fat related traits, further research on these genes in swine may provide useful information on genetic factors underlying lean pork production.  相似文献   

9.
1. We studied the effect of host abundance on parasite abundance and prevalence using data on 57 associations of fleas (Siphonaptera) and their mammalian hosts from Slovakia. 2. We assumed that flea-induced host mortality could be inferred from the relationship between flea aggregation and flea abundance, whereas host-induced flea mortality could be inferred from the relationship between flea abundance or aggregation and host abundance. 3. Relationships between flea abundance or prevalence and host abundance were either negative (in 23 flea-host associations) or absent (in 34 flea-host associations). Negative relationships between flea abundance and host abundance were always accompanied by negative relationships between flea prevalence and host abundance. 4. The link between flea abundance/prevalence and host abundance was evaluated as the coefficient of determination of the respective regressions. Across flea-host associations, this link decreased with an increase in the degree of flea aggregation (measured as a parameter b of Taylor's power law). 5. Mean crowding of fleas decreased with an increase of host abundance in eight flea-host associations, being asymptotic in four of them. On the other hand, mean crowding of fleas increased with an increase in flea abundance in 49 flea-host associations, being asymptotic in 15 of them. 6. Results of this study suggest that different flea-host associations are governed by different regulating mechanisms, but different regulation mechanisms may act simultaneously within the same flea-host associations.  相似文献   

10.
Integrins alpha(M)beta(2) plays important role on leukocytes, such as adhesion, migration, phagocytosis, and apoptosis. It was hypothesized that homomeric associations of integrin subunits provide a driving force for integrins activation, and simultaneously inducing the formation of integrins clusters. However, experimental reports on homomeric associations between integrin subunits are still controversial. Here, we proved the homomeric associations of the isolated Mac-1 subunits in living cells using three-channel fluorescence resonance energy transfer (FRET) microscopy and FRET spectra methods. We found that the extent of homomeric associations between beta(2) subunits is higher than alpha(M) subunits. Furthermore, FRET imaging indicated that the extent of homomeric associations of the Mac-1 subunits is higher along the plasma membrane than in the cytoplasm. Finally, we suggested that homomeric associations of the transmembrane domains or/and cytoplasmic domains may provide the driving force for the formation of constitutive homomeric associations between alpha(M) or beta(2) subunits.  相似文献   

11.

Background

Fetal hemoglobin (HbF) is an important modulator of sickle cell disease (SCD). HbF has previously been shown to be affected by variants at three loci on chromosomes 2, 6 and 11, but it is likely that additional loci remain to be discovered.

Methods and Findings

We conducted a genome-wide association study (GWAS) in 1,213 SCA (HbSS/HbSβ0) patients in Tanzania. Genotyping was done with Illumina Omni2.5 array and imputation using 1000 Genomes Phase I release data. Association with HbF was analysed using a linear mixed model to control for complex population structure within our study. We successfully replicated known associations for HbF near BCL11A and the HBS1L-MYB intergenic polymorphisms (HMIP), including multiple independent effects near BCL11A, consistent with previous reports. We observed eight additional associations with P<10−6. These associations could not be replicated in a SCA population in the UK.

Conclusions

This is the largest GWAS study in SCA in Africa. We have confirmed known associations and identified new genetic associations with HbF that require further replication in SCA populations in Africa.  相似文献   

12.
Gestation length, birth weight, and weaning weight of F2 Nelore-Angus calves (n = 737) with designed extensive full-sibling and half-sibling relatedness were evaluated for association with 34,957 SNP markers. In analyses of birth weight, random relatedness was modeled three ways: 1) none, 2) random animal, pedigree-based relationship matrix, or 3) random animal, genomic relationship matrix. Detected birth weight-SNP associations were 1,200, 735, and 31 for those parameterizations respectively; each additional model refinement removed associations that apparently were a result of the built-in stratification by relatedness. Subsequent analyses of gestation length and weaning weight modeled genomic relatedness; there were 40 and 26 trait-marker associations detected for those traits, respectively. Birth weight associations were on BTA14 except for a single marker on BTA5. Gestation length associations included 37 SNP on BTA21, 2 on BTA27 and one on BTA3. Weaning weight associations were on BTA14 except for a single marker on BTA10. Twenty-one SNP markers on BTA14 were detected in both birth and weaning weight analyses.  相似文献   

13.
Although the causes of Parkinson's disease (PD) are thought to be primarily environmental, recent studies suggest that a number of genes influence susceptibility. Using targeted case recruitment and online survey instruments, we conducted the largest case-control genome-wide association study (GWAS) of PD based on a single collection of individuals to date (3,426 cases and 29,624 controls). We discovered two novel, genome-wide significant associations with PD-rs6812193 near SCARB2 (p = 7.6 × 10(-10), OR = 0.84) and rs11868035 near SREBF1/RAI1 (p = 5.6 × 10(-8), OR = 0.85)-both replicated in an independent cohort. We also replicated 20 previously discovered genetic associations (including LRRK2, GBA, SNCA, MAPT, GAK, and the HLA region), providing support for our novel study design. Relying on a recently proposed method based on genome-wide sharing estimates between distantly related individuals, we estimated the heritability of PD to be at least 0.27. Finally, using sparse regression techniques, we constructed predictive models that account for 6%-7% of the total variance in liability and that suggest the presence of true associations just beyond genome-wide significance, as confirmed through both internal and external cross-validation. These results indicate a substantial, but by no means total, contribution of genetics underlying susceptibility to both early-onset and late-onset PD, suggesting that, despite the novel associations discovered here and elsewhere, the majority of the genetic component for Parkinson's disease remains to be discovered.  相似文献   

14.
Understanding the spatial organization of the chromosomes in meiotic nuclei is crucial to our knowledge of the genome's functional regulation, stability and evolution. This study examined the nuclear architecture of Mus domesticus 2n=40 pachytene spermatocytes, analyzing the associations among autosomal bivalents via their Centromere Telomere Complexes (CTC). The study developed a nuclear model in which each CTC was represented as a 3D computer object. The probability of a given combination of associations among CTC was estimated by simulating a random distribution of 19 indistinguishable CTC over n indistinguishable "cells" on the nuclear envelope. The estimated association frequencies resulting from this numerical approach were similar to those obtained by quantifying actual associations in pachytene spermatocyte spreads. The nuclear localization and associations of CTC through the meiotic prophase in well-preserved nuclei were also analyzed. We concluded that throughout the meiotic prophase: 1) the CTC of autosomal bivalents are not randomly distributed in the nuclear space; 2) the CTC associate amongst themselves, probably at random, over a small surface of the nuclear envelope, at the beginning of the meiotic prophase; 3) the initial aggregation of centromere regions occurring in lepto-zygotene likely resolves into several smaller aggregates according to patterns of preferential partitioning; 4) these smaller aggregates spread over the inner face of the nuclear envelope, remaining stable until advanced stages of the meiotic prophase or even until the first meiotic division.  相似文献   

15.
The beta 2 electroencephalogram (EEG) phenotype is used as a quantitative measure related to alcoholism, and evidence of linkage and association has previously been reported in the Collaborative Study on the Genetics of Alcoholism data. In this study, associations between the beta 2 EEG phenotype and single nucleotide polymorphisms from whole-genome Illumina and Affymetrix panels were investigated with the regression of offspring on mid-parent method to identify significant genetic effects and to estimate their heritability. Separate regressions on father and mother were performed to identify parent-specific effects. Estimates of the heritability of the beta 2 EEG phenotype were 0.68 +/- 0.12 and 0.52 +/- 0.07 based on father-offspring and mother-offspring pairs, respectively. Significant associations at the 0.0005 level, some of which were parent-specific, were found on chromosomes 1, 2, 5, 6, 7, 8, 11, 12, 15, 16, 17, 18, and 19 with heritability attributable to each SNP ranging from 0.01 to 8%.  相似文献   

16.
1. Individuals of free-living organisms are commonly infected by multiple parasite species. Under such circumstances, positive or negative associations between the species are possible because of direct or indirect interactions, details in parasite transmission ecology and host-mediated factors. One possible mechanism underlying these processes is host immunity, but its role in shaping these associations has rarely been tackled experimentally.
2. In this study, we tested the effect of host immunization on associations between trematode parasites infecting eyes of fish. We first analysed the associations between three species ( Diplostomum spathaceum , Diplostomum gasterostei and Tylodelphys clavata ) in wild hosts, roach ( Rutilus rutilus ) and perch ( Perca fluviatilis ). Second, using rainbow trout ( Oncorhynchus mykiss ) as a model fish species, we experimentally investigated how sequential immunization of the host (i.e. one parasite species infects and immunizes the host first) could affect the associations between two of the species.
3. The results indicated that most of the associations were positive in wild hosts, which supports between-individual variation in host susceptibility, rather than competitive exclusion between the parasite species. However, positive associations were more common in roach than in perch, possibly reflecting differences in ecological conditions of exposure between the host species. The experimental data showed that positive associations between two of the species were eroded by host immunization against one of the parasite species.
4. We conclude that sequential immunization of hosts has a marked effect on interspecific parasite associations and basically can determine if positive associations are detected or not. This implies that correlative results suggesting non-interactive community structure in general may be obscured by the sequence of previous parasite exposure and corresponding dynamics of host immunization.  相似文献   

17.

Key message

Association mapping of drought-related traits in barley was used to increase the density of existing QTL maps without recreating mapping populations.

Abstract

We used 109 spring barley genotypes exhibiting high or low drought tolerance to elucidate the associations between diversity array technology sequencing (DArTseq) and single nucleotide polymorphism (SNP) markers and various physiological parameters related to plant responses to drought conditions. The study was performed in controlled conditions (growth chambers), drought tolerance was phenotyped in the four-leaf seedlings. We identified 58 associations including 34 new markers (i.e., 16 DArTseq and 18 SNP markers). The results for three markers were consistent with the data obtained in an earlier traditional biparental QTL mapping study. The regions neighboring markers on linkage group 2H contained the highest number of significant marker–trait associations. Five markers related to the photosynthetic activity of photosystem II were detected on chromosome 4H. The lowest number of associations were observed for the sequences neighboring DArT markers on linkage group 6H. A chromosome 3H region related to water use efficiency and net photosynthesis rate in both biparental QTL, and association study, may be particularly valuable, as these parameters correspond to the ability of plants to remain highly productive under water deficit stress. Our findings confirm that association mapping can increase the density of existing QTL maps without recreating mapping populations.
  相似文献   

18.
《植物生态学报》2017,41(4):430
Aims Tree mortality is an important ecological process in forest ecosystems. The aims of this study were to determine how tree mortality influences the spatial patterns and interspecific associations of plant species, and what are the causes of tree mortality in a 1 hm2 permanent plot in Baotianman National Nature Reserve, Nanyang City, Henan Province.
Methods We conducted field investigations in the plot and used spatial point pattern analysis to examine the spatial patterns and interspecific associations of 17 species prior to and following mortality.
Important findings (1) Most of the species in the study plot showed an aggregated distribution both pre- and post-mortality. However, the number of species showing aggregated distribution decreased and the number of species showing random distribution increased following the mortality event. (2) Most species were positively associated with Quercus aliena var. acuteserrata both pre- and post-mortality, while some had no apparent association. Following tree mortality, on fine scales, the number of species with positive associations increased, and the number of species with negative associations decreased. (3) Tree mortality was in consistency with the random death hypothesis. The interspecific associations of four species with Q. aliena var. acuteserrata completely changed following death. For most species, the spatial patterns and the interspecific association with Q. aliena var. acuteserrata either changed at minor scales or did not change. The variations in spatial patterns or interspecific associations were inconsistent among species. (4) The dead trees of Q. aliena var. acuteserrata were significantly associated with the living trees in 13 species, but the associations between dead and living trees were not in agreement with the changes in interspecific association following mortality. Only five living tree species competed with the dead trees of Q. aliena var. acuteserrata, and the competition between each of these species and Q. aliena var. acuteserrata intensified after individual death. Tree mortality is the result of a variety of factors. Although the tree mortality in the study plot was in accordance with the random death hypothesis, there were also a few individuals which were dead from competition.  相似文献   

19.
Hypothesis generation in observational, biomedical data science often starts with computing an association or identifying the statistical relationship between a dependent and an independent variable. However, the outcome of this process depends fundamentally on modeling strategy, with differing strategies generating what can be called “vibration of effects” (VoE). VoE is defined by variation in associations that often lead to contradictory results. Here, we present a computational tool capable of modeling VoE in biomedical data by fitting millions of different models and comparing their output. We execute a VoE analysis on a series of widely reported associations (e.g., carrot intake associated with eyesight) with an extended additional focus on lifestyle exposures (e.g., physical activity) and components of the Framingham Risk Score for cardiovascular health (e.g., blood pressure). We leveraged our tool for potential confounder identification, investigating what adjusting variables are responsible for conflicting models. We propose modeling VoE as a critical step in navigating discovery in observational data, discerning robust associations, and cataloging adjusting variables that impact model output.

COVID positivity and vitamin D intake, red meat and heart disease; how can we discern when biomedical associations are reliable and when they are susceptible to our own arbitrary choices and assumptions? This study presents “quantvoe,” a software package for exploring the entirety of possible findings due to the multiverse of associations possible.  相似文献   

20.
The Hantam-Tanqua-Roggeveld subregion is part of the Succulent Karoo hotspot of biodiversity which stretches along the southwestern side of South Africa and Namibia. Forty Whittaker plots were surveyed in the spring of 2005, in eight vegetation associations, to gather diversity data for the Hantam, Tanqua Karoo and Roggeveld areas. Seven plot sizes were used to construct species–area curves using three different models namely: the untransformed linear function, the power function and the exponential function. In general, the power and exponential functions produced a more significant fit to the data than the untransformed linear function. Linear regressions using environmental parameters indicated that altitude, mean annual precipitation and mean annual temperature were significant predictors of species richness at the 1, 10, 100 and 1000 m2 scales. To illustrate the variation in species–area curves and species richness across the landscape, a transect through the study area is discussed. The transect stretches eastwards from the Tanqua Karoo across the escarpment into the Roggeveld and crosses five different vegetation associations. Differences between associations were found in species richness in the 1000 m2 plots. Each association also produced species–area curves with their own characteristics. Slope values for the samples within an association did not differ significantly, although the intercept value often did. Comparisons between associations along the transect revealed significant differences in the slope value between the associations, except for the Dicerothamnus rhinocerotis Mountain Renosterveld which did not differ significantly from the associations bordering it on either side.  相似文献   

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