Human Heredity最新文献

{"title":"Exome-Wide Pan-Cancer Analysis of Germline Variants in 8,719 Individuals Finds Little Evidence of Rare Variant Associations.","authors":"Zoe Guan,&nbsp;Ronglai Shen,&nbsp;Colin B Begg","doi":"10.1159/000519355","DOIUrl":"https://doi.org/10.1159/000519355","url":null,"abstract":"<p><strong>Background: </strong>Many cancer types show considerable heritability, and extensive research has been done to identify germline susceptibility variants. Linkage studies have discovered many rare high-risk variants, and genome-wide association studies (GWAS) have discovered many common low-risk variants. However, it is believed that a considerable proportion of the heritability of cancer remains unexplained by known susceptibility variants. The \"rare variant hypothesis\" proposes that much of the missing heritability lies in rare variants that cannot reliably be detected by linkage analysis or GWAS. Until recently, high sequencing costs have precluded extensive surveys of rare variants, but technological advances have now made it possible to analyze rare variants on a much greater scale.</p><p><strong>Objectives: </strong>In this study, we investigated associations between rare variants and 14 cancer types.</p><p><strong>Methods: </strong>We ran association tests using whole-exome sequencing data from The Cancer Genome Atlas (TCGA) and validated the findings using data from the Pan-Cancer Analysis of Whole Genomes Consortium (PCAWG).</p><p><strong>Results: </strong>We identified four significant associations in TCGA, only one of which was replicated in PCAWG (BRCA1 and ovarian cancer).</p><p><strong>Conclusions: </strong>Our results provide little evidence in favor of the rare variant hypothesis. Much larger sample sizes may be needed to detect undiscovered rare cancer variants.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"86 1-4","pages":"34-44"},"PeriodicalIF":1.8,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8889565/pdf/nihms-1780279.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39843210","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":"Contents Vol. 84, 2019","authors":"Mulin Li","doi":"10.1159/000512546","DOIUrl":"https://doi.org/10.1159/000512546","url":null,"abstract":"203 48th European Mathematical Genetics Meeting (EMGM) 2020 Lausanne, Switzerland, April 16–17, 2020 Guest Editors: Zoltan Kutalik; Matthew Robinson (Lausanne)","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"I - IV"},"PeriodicalIF":1.8,"publicationDate":"2020-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512546","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47953741","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":"","doi":"10.1159/000512996","DOIUrl":"https://doi.org/10.1159/000512996","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2020-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45010251","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":"","doi":"10.1159/000510011","DOIUrl":"https://doi.org/10.1159/000510011","url":null,"abstract":"203 48th European Mathematical Genetics Meeting (EMGM) 2020 Lausanne, Switzerland, April 16–17, 2020 Guest Editors: Zoltan Kutalik; Matthew Robinson (Lausanne) Cover illustration iStock.com Cytogenetic and Genome Research has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of the contributions have centered on genome research, including gene regulation and expression, cancer genetics, comparative genetics and human malformation syndromes. The journal publishes key papers on the insights into the mechanisms of chromosome aberrations in somatic, meiotic and malignant cells. Its scope includes studies on invertebrate and plant cytogenetics and genomics. Also featured are recent international reports on human and animal chromosome nomenclature. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research. Cytogenetic and Genome Research Founded: 1962 Category: Basic Research Field of Interest: Genetics Listed in bibliographic services, including: PubMed/MEDLINE, Web of Science, Google Scholar, Scopus, Embase 2019: Volumes 157, 158, 159 4 issues per volume Language: English ISSN 1424–8581 e-ISSN 1424–859X More information at w w w.karger.com/cgr A leading journal on human, animal and plant genomes and chromosomes Impact Factor: 1.587 5-Year Impact Factor: 1.682 Editor-in-Chief M. Schmid, Würzburg Executive Editors L.A. Cannizzaro, New York, NY T. Haaf, Würzburg Managing Editors T. Gößwein, Würzburg M. Guttenbach, Würzburg K. Schmid, Würzburg Associate Editors R.D. Burnside, Research Triangle Park, NC A. Geurts Van Kessel, Nijmegen A. Houben, Gatersleben O. Riess, Tübingen J. Smith, Roslin Selected contributions • Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum: Çakmaklı, S.; Çankaya, T.; Gürsoy, S.; Koç, A.; Kırbıyık, Ö.; Kılıçarslan, Ö.A.; Özer, E.; Erçal, D.; Bozkaya, Ö.G. (Izmir) • Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients: Kim, S.Y.; Lee, B.Y.; Oh, A.R.; Park, S.Y.; Lee, H.S.; Seo, J.T. (Seoul) • Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences: Marlet, L.; Alix, E.; Till, M. (Bron); Raskin-Champion, F.; Attia, J.; Boggio, D. (Pierre-Bénite); Sanlaville, D.; Schluth-Bolard, C. (Bron) • The Relationship between the (In-)Stability of NORs and Their Chromosomal Location: The Example of Cercopithecidae and a Short Review of Other Primates: Gerbault-Seureau, M.; Cacheux, L.; Dutrillaux, B. (Paris) • Production and Molecular Cytogenetic Characterization of a Durum Wheat-Thinopyrum elongatum 7E Disomic Addition Line with Resistance to Fusarium Head Blight: Liu, H.; Dai, Y. (Yangzhou/Ottawa, ON); Chi, D. (Ottawa, ON); Huang, S. (Nanjing); Li, H.; Duan, Y. (Yangzhou); Cao,","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46721003","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":"Publisher's Note","authors":"","doi":"10.1159/000509257","DOIUrl":"https://doi.org/10.1159/000509257","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"159 - 159"},"PeriodicalIF":1.8,"publicationDate":"2020-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509257","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43143979","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":"","doi":"10.1159/000507067","DOIUrl":"https://doi.org/10.1159/000507067","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"1 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44768084","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":"Variants in ACE2 and TMPRSS2 Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank Subjects.","authors":"David Curtis","doi":"10.1159/000515200","DOIUrl":"10.1159/000515200","url":null,"abstract":"<p><p>It is plausible that variants in the ACE2 and TMPRSS2 genes might contribute to variation in COVID-19 severity and that these could explain why some people become very unwell whereas most do not. Exome sequence data was obtained for 49,953 UK Biobank subjects, of whom 82 had tested positive for SARS-CoV-2 and could be presumed to have severe disease. A weighted burden analysis was carried out using SCOREASSOC to determine whether there were differences between these cases and the other sequenced subjects in the overall burden of rare, damaging variants in ACE2 or TMPRSS2. There were no statistically significant differences in weighted burden scores between cases and controls for either gene. There were no individual DNA sequence variants with a markedly different frequency between cases and controls. Whether there are small effects on severity, or whether there might be rare variants with major effect sizes, would require studies in much larger samples. Genetic variants affecting the structure and function of the ACE2 and TMPRSS2 proteins are not the main explanation for why some people develop severe symptoms in response to infection with SARS-CoV-2. This research was conducted using the UK Biobank Resource.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 2","pages":"66-68"},"PeriodicalIF":1.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0f/c6/hhe-0001.PMC8089417.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25517295","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":"Methylenetetrahydrofolate Reductase Dimer Configuration as a Risk Factor for Maternal Meiosis I-Derived Trisomy 21.","authors":"Jadranka Vraneković,&nbsp;Ivana Babić Božović,&nbsp;Iva Bilić Čače,&nbsp;Bojana Brajenović Milić","doi":"10.1159/000515121","DOIUrl":"https://doi.org/10.1159/000515121","url":null,"abstract":"<p><strong>Background: </strong>Evidence suggests that the dimer configuration of methylenetetrahydrofolate reductase (MTHFR) enzyme might be destabilized by polymorphisms in monomers at the positions C677T and A1298C. It has been observed that these polymorphisms may lead to stable (CCAA, CCAC, CCCC) and unstable (CTAA, CTAC, TTAA) enzyme dimer configurations.</p><p><strong>Objective: </strong>The aim of this study was to evaluate the association of the MTHFR enzyme dimer configuration and folate dietary intake with the stage of meiotic nondisjunction in mothers of children with maternally derived trisomy 21.</p><p><strong>Methods: </strong>A total of 119 mothers of children with maternally derived free trisomy 21 were included in the study. The mean maternal age at the time of the birth of the child with trisomy 21 was 32.3 ± 6.4 (range 16-43) years. All mothers were Caucasian. Parental origin of trisomy 21 and meiotic stage of nondisjunction was determined using short tandem repeat markers spanning from the centromere to the telomere of chromosome 21q. The MTHFR C677T and A1298C polymorphism was evaluated by PCR-RFLP.</p><p><strong>Results: </strong>Increased frequency of the MTHFR genotype combinations CTAA, CTAC, and TTAA was found in the group of mothers with meiosis I (MI) nondisjunction (p = 0.007). No differences were found between study participants regarding dietary and lifestyles habits.</p><p><strong>Conclusion: </strong>The risk for MI nondisjunction of chromosome 21 was 4.6-fold higher in cases who had CTAA, CTAC, and TTAA MTHFR genotype combinations and who did not used folic acid supplements in the preconception period.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 2","pages":"61-65"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000515121","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25531121","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":"Voltage-Gated Sodium Channel β1 Gene: An Overview.","authors":"Hisham Al-Ward,&nbsp;Chun-Yang Liu,&nbsp;Ning Liu,&nbsp;Fahmi Shaher,&nbsp;Murad Al-Nusaif,&nbsp;Jing Mao,&nbsp;Hui Xu","doi":"10.1159/000516388","DOIUrl":"https://doi.org/10.1159/000516388","url":null,"abstract":"<p><strong>Background: </strong>Voltage-gated sodium channels are protein complexes composed of 2 subunits, namely, pore-forming α- and regulatory β-subunits. A β-subunit consists of 5 proteins encoded by 4 genes (i.e., SCN1B-SCN4B).</p><p><strong>Summary: </strong>β1-Subunits regulate sodium ion channel functions, including gating properties, subcellular localization, and kinetics. Key Message: Sodium channel β1- and its variant β1B-subunits are encoded by SCN1B. These variants are associated with many human diseases, such as epilepsy, Brugada syndrome, Dravet syndrome, and cancers. On the basis of previous research, we aimed to provide an overview of the structure, expression, and involvement of SCN1B in physiological processes and focused on its role in diseases.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 3-6","pages":"101-109"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000516388","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38952099","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":"49th European Mathematical Genetics Meeting (EMGM) 2021.","authors":"Emmanuelle Génin","doi":"10.1159/000516194","DOIUrl":"https://doi.org/10.1159/000516194","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"85 2","pages":"69-100"},"PeriodicalIF":1.8,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000516194","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38899048","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}