Human Heredity最新文献

{"title":"Front & Back Matter","authors":"","doi":"10.1159/000501780","DOIUrl":"https://doi.org/10.1159/000501780","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46902129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contents Vol. 83, 2017/2018","authors":"M. Devoto","doi":"10.1159/000501251","DOIUrl":"https://doi.org/10.1159/000501251","url":null,"abstract":"1 46th European Mathematical Genetics Meeting (EMGM) 2018 Cagliari, Italy, April 18–20, 2018 Guest Editors: Bermejo, J.L. (Heidelberg); Devoto, M. (Philadelphia, PA/ Rome); Fischer, C.(Heidelberg) 40 SAGES 2018 Symposium on Advances in Genomics, Epidemiology and Statistics 2018, Philadelphia, PA, USA, June 1, 2018 Guest Editor: Devoto, M. (Philadelphia, PA)","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"83 1","pages":"I - IV"},"PeriodicalIF":1.8,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000501251","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46937844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"W. Kiess, C. Bornehag, C. Gennings","doi":"10.1159/000501052","DOIUrl":"https://doi.org/10.1159/000501052","url":null,"abstract":"225 47th European Mathematical Genetics Meeting (EMGM) 2019 Dublin, Ireland, April 8–9, 2019 Guest Editor: Heron, E.A. (Dublin)","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2019-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47142476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"W. Wiersinga, G. Kahaly, V. Blanchette, L. Brandão, V. Breakey, S. Revel-Vilk","doi":"10.1159/000500054","DOIUrl":"https://doi.org/10.1159/000500054","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46553152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Author Index/Subject Index, Vol. 83, No. 3, 2017/2018","authors":"","doi":"10.1159/000495737","DOIUrl":"https://doi.org/10.1159/000495737","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"83 1","pages":"173 - 173"},"PeriodicalIF":1.8,"publicationDate":"2019-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000495737","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45141877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Title Page/Table of Contents","authors":"J. Wang","doi":"10.1159/000495548","DOIUrl":"https://doi.org/10.1159/000495548","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"83 1","pages":"101 - 104"},"PeriodicalIF":1.8,"publicationDate":"2019-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000495548","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46881049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Bayesian Hierarchical Framework for Pathway Analysis in Genome-Wide Association Studies.","authors":"Lei Zhang,&nbsp;Charalampos Papachristou,&nbsp;Pankaj K Choudhary,&nbsp;Swati Biswas","doi":"10.1159/000508664","DOIUrl":"https://doi.org/10.1159/000508664","url":null,"abstract":"<p><strong>Background: </strong>Pathway analysis allows joint consideration of multiple SNPs belonging to multiple genes, which in turn belong to a biologically defined pathway. This type of analysis is usually more powerful than single-SNP analyses for detecting joint effects of variants in a pathway.</p><p><strong>Methods: </strong>We develop a Bayesian hierarchical model by fully modeling the 3-level hierarchy, namely, SNP-gene-pathway that is naturally inherent in the structure of the pathways, unlike the currently used ad hoc ways of combining such information. We model the effects at each level conditional on the effects of the levels preceding them within the generalized linear model framework. To deal with the high dimensionality, we regularize the regression coefficients through an appropriate choice of priors. The model is fit using a combination of iteratively weighted least squares and expectation-maximization algorithms to estimate the posterior modes and their standard errors. A normal approximation is used for inference.</p><p><strong>Results: </strong>We conduct simulations to study the proposed method and find that our method has higher power than some standard approaches in several settings for identifying pathways with multiple modest-sized variants. We illustrate the method by analyzing data from two genome-wide association studies on breast and renal cancers.</p><p><strong>Conclusion: </strong>Our method can be helpful in detecting pathway association.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 6","pages":"240-255"},"PeriodicalIF":1.8,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508664","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38414153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of miR-210 in the Biological System: A Current Overview.","authors":"Xu Hui,&nbsp;Hisham Al-Ward,&nbsp;Fahmi Shaher,&nbsp;Chun-Yang Liu,&nbsp;Ning Liu","doi":"10.1159/000509280","DOIUrl":"https://doi.org/10.1159/000509280","url":null,"abstract":"<p><strong>Background: </strong>MicroRNAs (miRNAs) represent a group of non-coding RNAs measuring 19-23 nucleotides in length and are recognized as powerful molecules that regulate gene expression in eukaryotic cells. miRNAs stimulate the post-transcriptional regulation of gene expression via direct or indirect mechanisms.</p><p><strong>Summary: </strong>miR-210 is highly upregulated in cells under hypoxia, thereby revealing its significance to cell endurance. Induction of this mRNA expression is an important feature of the cellular low-oxygen response and the most consistent and vigorous target of HIF. Key Message: miR-210 is involved in many cellular functions under the effect of HIF-1α, including the cell cycle, DNA repair, immunity and inflammation, angiogenesis, metabolism, and macrophage regulation. It also plays an important regulatory role in T-cell differentiation and stimulation.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 6","pages":"233-239"},"PeriodicalIF":1.8,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509280","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38458660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Contribution Plot: Decomposition and Graphical Display of the RV Coefficient, with Application to Genetic and Brain Imaging Biomarkers of Alzheimer's Disease.","authors":"JinCheol Choi, Donghuan Lu, Mirza Faisal Beg, Jinko Graham, Brad McNeney","doi":"10.1159/000501334","DOIUrl":"10.1159/000501334","url":null,"abstract":"<p><strong>Background/aims: </strong>Alzheimer's disease (AD) is a chronic neurodegenerative disease that causes memory loss and a decline in cognitive abilities. AD is the sixth leading cause of death in the USA, affecting an estimated 5 million Americans. To assess the association between multiple genetic variants and multiple measurements of structural changes in the brain, a recent study of AD used a multivariate measure of linear dependence, the RV coefficient. The authors decomposed the RV coefficient into contributions from individual variants and displayed these contributions graphically.</p><p><strong>Methods: </strong>We investigate the properties of such a \"contribution plot\" in terms of an underlying linear model, and discuss shrinkage estimation of the components of the plot when the correlation signal may be sparse.</p><p><strong>Results: </strong>The contribution plot is applied to simulated data and to genomic and brain imaging data from the Alzheimer's Disease Neuroimaging Initiative (ADNI).</p><p><strong>Conclusions: </strong>The contribution plot with shrinkage estimation can reveal truly associated explanatory variables.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"59-72"},"PeriodicalIF":1.1,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48183543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estimating Uterine Fibroid SNP-Based Heritability in European American Women with Imaging-Confirmed Fibroids.","authors":"Michael J Bray,&nbsp;Lea K Davis,&nbsp;Eric S Torstenson,&nbsp;Sarah H Jones,&nbsp;Todd L Edwards,&nbsp;Digna R Velez Edwards","doi":"10.1159/000501335","DOIUrl":"https://doi.org/10.1159/000501335","url":null,"abstract":"<p><strong>Background: </strong>Heritability estimates (including twin and single nucleotide polymorphism [SNP]-based heritability studies) for fibroids have been inconsistent across prior studies ranging between 9 and 69%. These inconsistencies are due to variations in study design and included populations. A major design issue has been lack of imaging confirmation to identify controls, where asymptomatic women without imaging confirmation may be misclassified as controls leading to an attenuation of heritability estimates. To reconcile the differences in prior heritability estimates and the impact of misclassification of controls on heritability, we determined SNP-based heritability and characterized the genetic architecture of pelvic image-confirmed fibroid cases and controls.</p><p><strong>Methods: </strong>Analyses were performed among women of European American descent using genome-wide SNP data from BioVU, a clinical database composed of DNA linked to de-identified electronic health records. We estimated the genetic variance explained by all SNPs using Genome-Wide Complex Trait Analysis on imputed data. Fibroid cases and controls were identified using a previously reported phenotyping algorithm that required pelvic imaging confirmation.</p><p><strong>Results: </strong>In total, we used 1,067 image-confirmed fibroid cases and 1,042 image-confirmed fibroid controls. The SNP-based heritability estimate for fibroid risk was h2 = 0.33 ± 0.18 (p = 0.040). We investigated the relationship between heritability per chromosome and chromosome length (r2 < 1%), with chromosome 8 explaining the highest proportion of variance for fibroid risk. There was no enrichment for intergenic or genic SNPs for the fibroid SNP-based heritability. Excluding loci previously associated with fibroid risk from genome-wide association study did not attenuate fibroid heritability suggesting that loci associating with fibroid risk are yet to be discovered.</p><p><strong>Conclusions: </strong>We observed that fibroid SNP-based heritability was higher than the previous estimate using genome-wide SNP data that relied on self-reported outcomes, but within the range of prior twin pair studies. Furthermore, these data support that imprecise phenotyping can significantly affect the ability to estimate heritability using genotype data.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 2","pages":"73-81"},"PeriodicalIF":1.8,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000501335","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9824469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}