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International Network of Twin Registries (INTR): Building a Platform for International Collaboration
Buchwald, Dedra,Kaprio, Jaakko,Hopper, John L.,Sung, Joohon,Goldberg, Jack,Fortier, Isabel,Busjhan, Andreas,Sumathipala, Athula,Cozen, Wendy,Mack, Thomas,Craig, Jeffrey M.,Harris, Jennifer R. Cambridge University Press 2014 TWIN RESEARCH AND HUMAN GENETICS - Vol.17 No.6
<P>The International Network of Twin Registries (INTR) aims to foster scientific collaboration and promote twin research on a global scale by working to expand the resources of twin registries around the world and make them available to researchers who adhere to established guidelines for international collaboration. Our vision is to create an unprecedented scientific network of twin registries that will advance knowledge in ways that are impossible for individual registries, and includes the harmonization of data. INTR will also promote a broad range of activities, including the development of a website, formulation of data harmonization protocols, creation of a library of software tools for twin studies, design of a search engine to identify research partners, establishment of searchable inventories of data and biospecimens, development of templates for informed consent and data sharing, organization of symposia at International Society of Twin Studies conferences, support for scholar exchanges, and writing grant proposals.</P>
Hijacking the Vuze BitTorrent network: all your hop are belong to us
Chan-Tin, Eric,Heorhiadi, Victor,Hopper, Nicholas,Yongdae Kim IET 2015 IET information security Vol.9 No.4
<P>Vuze is a popular file-sharing client. When looking for content, Vuze selects from its list of neighbours, a set of 20 nodes to be contacted; the selection is performed such that the neighbours closest to the content in terms of Vuze ID are contacted first. To improve efficiency of its searches, Vuze implements a network coordinate system: from the set of 20 to-be-contacted nodes, queries are sent to the closest nodes in terms of network distance, which is calculated by the difference in network coordinates. However, network coordinate systems are inherently insecure and a malicious peer can lie about its coordinate to appear closest to every peer in the network. This allows the malicious peer to bias next-hop choices for victim peers such that queries will be sent to the attacker, thus hijacking every search query. In our experiments, almost 20% of the search queries are hijacked; the cost of performing this attack is minimal - less than $112/month.</P>
Lin, Wei-Yu,Camp, Nicola J,Ghoussaini, Maya,Beesley, Jonathan,Michailidou, Kyriaki,Hopper, John L,Apicella, Carmel,Southey, Melissa C,Stone, Jennifer,Schmidt, Marjanka K,Broeks, Annegien,Van't Veer, L IRL Press 2015 Human molecular genetics Vol.24 No.1
<P>Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 ?? 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 ?? 10(-6)), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 ?? 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.</P>
11q13 is a susceptibility locus for hormone receptor positive breast cancer
Lambrechts, Diether,Truong, Therese,Justenhoven, Christina,Humphreys, Manjeet K.,Wang, Jean,Hopper, John L.,Dite, Gillian S.,Apicella, Carmel,Southey, Melissa C.,Schmidt, Marjanka K.,Broeks, Annegien Wiley (John WileySons) 2012 Human mutation Vol.33 No.7
Yokoyama, Yoshie,Jelenkovic, Aline,Sund, Reijo,Sung, Joohon,Hopper, John L.,Ooki, Syuichi,Heikkilä,, Kauko,Aaltonen, Sari,Tarnoki, Adam D.,Tarnoki, David L.,Willemsen, Gonneke,Bartels, Meike,van B Cambridge University Press 2016 TWIN RESEARCH AND HUMAN GENETICS - Vol.19 No.2
<P>We analyzed birth order differences in means and variances of height and body mass index (BMI) in monozygotic (MZ) and dizygotic (DZ) twins from infancy to old age. The data were derived from the international CODATwins database. The total number of height and BMI measures from 0.5 to 79.5 years of age was 397,466. As expected, first-born twins had greater birth weight than second-born twins. With respect to height, first-born twins were slightly taller than second-born twins in childhood. After adjusting the results for birth weight, the birth order differences decreased and were no longer statistically significant. First-born twins had greater BMI than the second-born twins over childhood and adolescence. After adjusting the results for birth weight, birth order was still associated with BMI until 12 years of age. No interaction effect between birth order and zygosity was found. Only limited evidence was found that birth order influenced variances of height or BMI. The results were similar among boys and girls and also in MZ and DZ twins. Overall, the differences in height and BMI between first- and second-born twins were modest even in early childhood, while adjustment for birth weight reduced the birth order differences but did not remove them for BMI.</P>
( Nicholas M. Brown ),( James F. Mcdonald ),( Robert A. Sershon ),( Robert H. Hopper ) 대한고관절학회 2021 Hip and Pelvis Vol.33 No.3
Purpose: Accurate component placement and restoration of patient anatomy are critical in total hip arthroplasty (THA) surgery. Although intraoperative radiographs are sometimes utilized, it is unclear whether this practice can improve accuracy. Materials and Methods: This study evaluated acetabular cup abduction, anteversion, leg length, and offset among 100 posterior approach THAs performed without imaging (No X-ray group) and compared them to a subsequent series of 100 THAs where an intraoperative radiograph was taken with the trial components in place (X-ray group). THAs were performed using a posterior approach by a single, experienced surgeon whose goal was to place the cup at 45° of abduction and 30° of anteversion. Supine anteroposterior pelvic digital radiographs taken at the first (nominal 4-week) postoperative visit were used for measurements. Results: Slight differences in cup abduction (47°±6° vs 44°±6°, respectively, P=0.003) and anteversion angle (35°±6° vs 31°±6°, respectively, P<0.001) were observed between the X-ray and No X-ray groups; however, a similar proportion of cups within 10°of the target angles was observed (76% vs 83%, respectively, P=0.22). No difference in offset measurements (1.1±6.6 mm vs 0.3±6.9 mm, respectively, P=0.42) or leg lengths (0.3±3.8 mm vs 0.3±4.8 mm, respectively, P=0.94) was observed between the X-ray and No X-ray groups; however, the X-ray group showed less leg length variation (P=0.05). Conclusion: In this study, the routine use of intraoperative radiographs was not associated with improved implant positioning for uncomplicated primary THA.
Zeng, Chenjie,Guo, Xingyi,Long, Jirong,Kuchenbaecker, Karoline B.,Droit, Arnaud,Michailidou, Kyriaki,Ghoussaini, Maya,Kar, Siddhartha,Freeman, Adam,Hopper, John L.,Milne, Roger L.,Bolla, Manjeet K.,Wa BioMed Central 2016 Breast cancer research Vol.18 No.-
<P><B>Background</B></P><P>Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk.</P><P><B>Method</B></P><P>We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/), and in 15,252 <I>BRCA1</I> mutation carriers in the Consortium of Investigators of Modifiers of <I>BRCA1/2</I> (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation.</P><P><B>Results</B></P><P>Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06–1.12; <I>P</I> = 3 × 10<SUP>-9</SUP>), rs805510 (OR = 1.08, 95 % CI = 1.04–1.12, <I>P</I> = 2 × 10<SUP>-5</SUP>), and rs1871152 (OR = 1.04, 95 % CI = 1.02–1.06; <I>P</I> = 2 × 10<SUP>-4</SUP>) identified in the general populations, and rs113824616 (<I>P</I> = 7 × 10<SUP>-5</SUP>) identified in the meta-analysis of BCAC ER-negative cases and <I>BRCA1</I> mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at <I>P</I> < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that <I>PTHLH</I> was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of <I>PTHLH</I> and its nearby gene <I>CCDC91</I> at <I>P</I> < 0.05.</P><P><B>Conclusion</B></P><P>This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk.</P><P><B>Electronic supplementary material</B></P><P>The online version of this article (doi:10.1186/s13058-016-0718-0) contains supplementary material, which is available to authorized users.</P>