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33 results on '"Yu, L. (Lei)"'

1. Inhibition of O-GlcNAc transferase activates type I interferon-dependent antitumor immunity by bridging cGAS-STING pathway

Author: Jianwen Chen, Bao Zhao, Hong Dong, Tianliang Li, Xiang Cheng, Wang Gong, Jing Wang, Junran Zhang, Gang Xin, Yanbao Yu, Yu L Lei, Jennifer D Black, Zihai Li, and Haitao Wen
Subjects: OGT, tumor immunity, cGAS, STING, colorectal cancer, Medicine, Science, Biology (General), QH301-705.5
Abstract: The O-GlcNAc transferase (OGT) is an essential enzyme that mediates protein O-GlcNAcylation, a unique form of posttranslational modification of many nuclear and cytosolic proteins. Recent studies observed increased OGT and O-GlcNAcylation levels in a broad range of human cancer tissues compared to adjacent normal tissues, indicating a universal effect of OGT in promoting tumorigenesis. Here, we show that OGT is essential for tumor growth in immunocompetent mice by repressing the cyclic GMP-AMP synthase (cGAS)-dependent DNA sensing pathway. We found that deletion of OGT (Ogt−/−) caused a marked reduction in tumor growth in both syngeneic mice tumor models and a genetic mice colorectal cancer (CRC) model induced by mutation of the Apc gene (Apcmin). Pharmacological inhibition or genetic deletion of OGT induced a robust genomic instability (GIN), leading to cGAS-dependent production of the type I interferon (IFN-I) and IFN-stimulated genes (ISGs). As a result, deletion of Cgas or Sting from Ogt−/− cancer cells restored tumor growth, and this correlated with impaired CD8+ T-cell-mediated antitumor immunity. Mechanistically, we found that OGT-dependent cleavage of host cell factor C1 (HCF-1) is required for the avoidance of GIN and IFN-I production in tumors. In summary, our results identify OGT-mediated genomic stability and activate cGAS-STING pathway as an important tumor-cell-intrinsic mechanism to repress antitumor immunity.
Published: 2024
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2. TRAF3IP3 negatively regulates cytosolic RNA induced anti-viral signaling by promoting TBK1 K48 ubiquitination

Author: Meng Deng, Jason W. Tam, Lufei Wang, Kaixin Liang, Sirui Li, Lu Zhang, Haitao Guo, Xiaobo Luo, Yang Zhang, Alex Petrucelli, Beckley K. Davis, Brian J. Conti, W. June Brickey, Ching-Chang Ko, Yu L. Lei, Shaocong Sun, and Jenny P. -Y. Ting
Subjects: Science
Abstract: RNA viruses can be detected by immune cell pattern recognition receptors, such as RLRs, resulting in MAVS-TBK1-IRF3 signalling and production of antiviral type 1 interferons. Here the authors show that macrophage TRAF3-interacting protein 3 regulates this signalling pathway by interacting with TRAF3 and TBK1 to suppress interferon responses.
Published: 2020
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3. The Interactions Between Candida albicans and Mucosal Immunity

Author: Yujie Zhou, Lei Cheng, Yu L. Lei, Biao Ren, and Xuedong Zhou
Subjects: Candida albicans, mucosa, immune cell, immune recognition, immune escape, Microbiology, QR1-502
Abstract: Mucosa protects the body against external pathogen invasion. However, pathogen colonies on the mucosa can invade the mucosa when the immunosurveillance is compromised, causing mucosal infection and subsequent diseases. Therefore, it is necessary to timely and effectively monitor and control pathogenic microorganisms through mucosal immunity. Candida albicans is the most prevalent fungi on the mucosa. The C. albicans colonies proliferate and increase their virulence, causing severe infectious diseases and even death, especially in immunocompromised patients. The normal host mucosal immune defense inhibits pathogenic C. albicans through stepwise processes, such as pathogen recognition, cytokine production, and immune cell phagocytosis. Herein, the current advances in the interactions between C. albicans and host mucosal immune defenses have been summarized to improve understanding on the immune mechanisms against fungal infections.
Published: 2021
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4. Ovarian cancer stem cells and macrophages reciprocally interact through the WNT pathway to promote pro-tumoral and malignant phenotypes in 3D engineered microenvironments

Author: Shreya Raghavan, Pooja Mehta, Yuying Xie, Yu L. Lei, and Geeta Mehta
Subjects: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Abstract Background Innate immune cells such as macrophages are abundantly present within malignant ascites, where they share the microenvironment with ovarian cancer stem cells (CSC). Methods To mimic this malignant ascites microenvironment, we created a hanging-drop hetero-spheroid model to bring CSCs and macrophages in close association. Within these hetero-spheroids, CD68+ macrophages (derived from U937 or peripheral blood monocytes) make up ~ 20% of the population, while the rest are ovarian cancer cells and ovarian cancer stem cells (derived from the high grade serous ovarian cancer cell line, OVCAR3). Results Our results indicate that CSCs drive the upregulation of M2 macrophage marker CD206 within hetero-spheroids, compared to bulk ovarian cancer cells, implying an inherently more immuno-suppressive program. Moreover, an increased maintenance of elevated aldehyde dehydrogenase (ALDH) activity is noted within hetero-spheroids that include pre-polarized CD206+ M2 macrophages, implying a reciprocal interaction that drives pro-tumoral activation as well as CSC self-renewal. Consistent with enriched CSCs, we also observe increased levels of pro-tumoral IL-10 and IL-6 cytokines in the CSC/M2-macrophage hetero-spheroids. CSC/M2-macrophage hetero-spheroids are also less sensitive to the chemotherapeutic agent carboplatin and are subsequently more invasive in transwell assays. Using inhibitors of WNT secretion in both CSCs and macrophages, we found that CSC-derived WNT ligands drove CD206+ M2 macrophage activation, and that, conversely, macrophage-derived WNT ligands enriched ALDH+ cells within the CSC compartment of hetero-spheroids. Upon examination of specific WNT ligand expression within the monocyte-derived macrophage system, we observed a significant elevation in gene expression for WNT5B. In CSCs co-cultured with macrophages within hetero-spheroids, increases in several WNT ligands were observed, and this increase was significantly inhibited when WNT5B was knocked down in macrophages. Conclusions Our data implies that macrophage- initiated WNT signaling could play a significant role in the maintenance of stemness, and the resulting phenotypes of chemoresistance and invasiveness. Our results indicate paracrine WNT activation during CSC/M2 macrophages interaction constitutes a positive feedback loop that likely contributes to the more aggressive phenotype, which makes the WNT pathway a potential target to reduce the CSC and M2 macrophage compartments in the tumor microenvironment.
Published: 2019
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5. Long non-coding RNA implicated in the invasion and metastasis of head and neck cancer: possible function and mechanisms

Author: Xiaobo Luo, Yan Qiu, Yuchen Jiang, Fangman Chen, Lu Jiang, Yu Zhou, Hongxia Dan, Xin Zeng, Yu L. Lei, and Qianming Chen
Subjects: Long noncoding RNA, Invasion, Metastasis, Head and neck cancer, Mechanism, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Abstract Head and neck cancer (HNC) ranks as the 6th most common malignancy across the world. Metastasis is a hallmark of cancer, primarily contributing to the relapse and poor prognosis of HNC. Recently, long noncoding RNAs (lncRNAs), previously considered as non-functional, are increasingly appreciated by scholars to play crucial roles in mediating HNC metastasis. LncRNAs, which are located in the nucleus and cytoplasm, mainly exert their function via epigenetic modification, transcriptional control and translational regulation. As several lncRNAs are presently demonstrated to participate in HNC metastasis, we make a summary of the functions and mechanisms regarding these lncRNAs. As shown in the literature, most lncRNAs appear to promote the metastasis of HNC. Hence, we primarily discuss the lncRNAs involved in enhancing metastasis. Additionally, more studies are needed to understand those lncRNAs without clear mechanisms. Furthermore, we introduced the upstream regulator for the aberrant expression of lncRNAs in HNC. Finally, we concisely addressed future research prospects of lncRNAs, particularly the interplay between lncRNAs and tumor immunity as well as lncRNA-targeted therapeutic techniques, and we introduced clustered regularly interspaced short palindromic repeats (CRISPR)-Display as a possibly transformative tool to study lncRNAs. Although lncRNA research is still in the initial stage, it holds great promise to be applied as a prognosticator of HNC and a therapeutic target to inhibit HNC metastasis, which could significantly enhance the outcome of HNC patients.
Published: 2018
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6. SUSD2 suppresses CD8+ T cell antitumor immunity by targeting IL-2 receptor signaling

Author: Bao Zhao, Weipeng Gong, Anjun Ma, Jianwen Chen, Maria Velegraki, Hong Dong, Zihao Liu, Lingling Wang, Tamio Okimoto, Devin M. Jones, Yu L. Lei, Meixiao Long, Kenneth J. Oestreich, Qin Ma, Gang Xin, David P. Carbone, Kai He, Zihai Li, and Haitao Wen
Subjects: Mice, Inbred C57BL, Mice, Cell Line, Tumor, Neoplasms, Immunology, Tumor Microenvironment, Animals, Immunology and Allergy, Receptors, Interleukin-2, Immunotherapy, CD8-Positive T-Lymphocytes, Article, Signal Transduction
Abstract: Dysfunctional CD8(+) T cells, which have defective production of antitumor effectors, represent a major mediator of immunosuppression in the tumor microenvironment. Here, we showed that SUSD2 was a negative regulator of CD8(+) T cell antitumor function. Susd2(−/−) effector CD8(+) T cells showed enhanced production of antitumor molecules, which consequently blunted tumor growth in multiple syngeneic mouse tumor models. Through a quantitative mass spectrometry assay, we found that SUSD2 interacted with interleukin-2 receptor α (IL-2Rα) through sushi domain-dependent protein interactions and that this interaction suppressed the binding of IL-2, an essential cytokine for the effector functions of CD8(+) T cells, to IL-2Rα. SUSD2 was not expressed on regulatory CD4(+) T cells and did not affect the inhibitory function of these cells. Adoptive transfer of Susd2(−/−) chimeric antigen receptor T cells induced a robust antitumor response in mice, highlighting the potential of SUSD2 as an immunotherapy target for cancer.
Published: 2022

7. Fast and robust deconvolution of tumor infiltrating lymphocyte from expression profiles using least trimmed squares.

Author: Yuning Hao, Ming Yan, Blake R Heath, Yu L Lei, and Yuying Xie
Subjects: Biology (General), QH301-705.5
Abstract: Gene-expression deconvolution is used to quantify different types of cells in a mixed population. It provides a highly promising solution to rapidly characterize the tumor-infiltrating immune landscape and identify cold cancers. However, a major challenge is that gene-expression data are frequently contaminated by many outliers that decrease the estimation accuracy. Thus, it is imperative to develop a robust deconvolution method that automatically decontaminates data by reliably detecting and removing outliers. We developed a new machine learning tool, Fast And Robust DEconvolution of Expression Profiles (FARDEEP), to enumerate immune cell subsets from whole tumor tissue samples. To reduce noise in the tumor gene expression datasets, FARDEEP utilizes an adaptive least trimmed square to automatically detect and remove outliers before estimating the cell compositions. We show that FARDEEP is less susceptible to outliers and returns a better estimation of coefficients than the existing methods with both numerical simulations and real datasets. FARDEEP provides an estimate related to the absolute quantity of each immune cell subset in addition to relative percentages. Hence, FARDEEP represents a novel robust algorithm to complement the existing toolkit for the characterization of tissue-infiltrating immune cell landscape. The source code for FARDEEP is implemented in R and available for download at https://github.com/YuningHao/FARDEEP.git.
Published: 2019
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8. Anti-tumor immunity induced by ectopic expression of viral antigens is transient and limited by immune escape

Author: Neeraja Dharmaraj, Stacey L. Piotrowski, Chen Huang, Jared M. Newton, Leonard S. Golfman, Aurelie Hanoteau, Sandeep T. Koshy, Aileen W. Li, Merlyn X. Pulikkathara, Bing Zhang, Jared K. Burks, David J. Mooney, Yu L. Lei, Andrew G. Sikora, and Simon Young
Subjects: immune editing, immunotherapy, biomaterials, mesoporous silica rods, cancer vaccine, head and neck cancer, hpv16 e6 and e7, Immunologic diseases. Allergy, RC581-607, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Immunotherapeutic treatments in head and neck cancer clinical trials include cancer vaccines targeting foreign viral antigens or mutational neoantigens derived from cancer-expressed proteins. Anti-tumor immune responses place cancer cells under selective pressure to lose or downregulate target antigens; therefore, vaccination against virus- or host- “driver” oncogenes are proposed as a strategy to overcome immune escape. Herein, we demonstrate the impact of immunogenic viral antigens on anti-tumor response and immune editing in MOC2-E6E7, a syngeneic murine oral cancer cell line expressing HPV-16 E6 and E7 oncoproteins. Using orthotopic syngeneic models, we observed in vivo tumor growth kinetics of MOC2-E6E7 is delayed in immunocompetent mice compared to parental MOC2 tumors. In contrast, tumor growth remained similar in Rag1-/- mice lacking adaptive immunity. MOC2-E6E7 tumors demonstrated an “inflamed” or immune-activated tumor microenvironment and greater infiltration of CD8+ T cells compared to MOC2. By real-time PCR, we detected downregulation of E6 and E7 genes in MOC2-E6E7 tumors only in immunocompetent mice, suggesting the loss of ectopic viral antigen expression due to immune editing. We then assessed the efficacy of a biomaterials-based mesoporous silica rod (MSR) cancer vaccine targeting HPV-16 E7 in our model. Vaccination induced robust infiltration of antigen-specific CD8+ T cells, which led to tumor growth delay and modestly prolonged survival in MOC2-E6E7 tumors. Increased efficacy was seen in a separate head and neck cancer tumor model, mEER, which obligately expresses E7 antigen. Collectively, our data highlight the need for both immunogenicity and ‘driver’ status of target antigens to be considered in cancer vaccine design.
Published: 2019
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9. Supplementary Figure 1-4 from Inhibition of ATM Increases Interferon Signaling and Sensitizes Pancreatic Cancer to Immune Checkpoint Blockade Therapy

Author: Meredith A. Morgan, Weiping Zou, Theodore S. Lawrence, Yu L. Lei, Ilona Kryczek, Timothy L. Frankel, Marina Pasca di Magliano, Daniel R. Wahl, Nithya Ramnath, Jiaqi Shi, Leslie A. Parsels, Shuang Wei, Joshua D. Parsels, Jenny Lazarus, Xueting Lang, Michael D. Green, and Qiang Zhang
Abstract: SF1: ATM regulates type I interferon signaling in pancreatic cancer. SF2: ATM regulation of the type I interferon pathway is cGAS/STING independent but SRC dependent. SF3: ATM inhibition cooperates with radiation to activate type I interferon signaling. SF4: ATM regulates pancreatic tumor immunity and ICB efficacy in vivo.
Published: 2023

10. Supplementary Tables 2-4 from Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine

Author: Yu L. Lei, Duxin Sun, Gregory T. Wolf, Robert L. Ferris, Jacques E. Nör, Thomas E. Carey, Simon Young, Qianming Chen, Peter J. Polverini, Hongwei Chen, Hongxiang Hu, Emily Bellile, Xinyi Zhao, Blake R. Heath, Xiaobo Luo, Christopher R. Donnelly, Yuying Xie, Kanokwan Sansanaphongpricha, and Yee Sun Tan
Abstract: This file includes Supplementary Tables S2-S4 and captions for all supplementary tables.
Published: 2023

11. Supplementary Figures 1-7 from Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine

Author: Yu L. Lei, Duxin Sun, Gregory T. Wolf, Robert L. Ferris, Jacques E. Nör, Thomas E. Carey, Simon Young, Qianming Chen, Peter J. Polverini, Hongwei Chen, Hongxiang Hu, Emily Bellile, Xinyi Zhao, Blake R. Heath, Xiaobo Luo, Christopher R. Donnelly, Yuying Xie, Kanokwan Sansanaphongpricha, and Yee Sun Tan
Abstract: Figure S1. Generation of HLA-A*02-restricted EGFR-specific CD8+ cytotoxic T lymphocytes; Figure S2. SOX2 inhibits IFN-I signaling by promoting autophagy-mediated degradation of STING; Figure S3. Validation of C57BL/6-syngeneic mouse squamous cell carcinoma cells; Figure S4. Characterization of MOC2-E6/E7 tumors; Figure S5: Clinical and immunological correlations of SOX2 expression in human HNSCC; Figure S6. SatVax (Q19D; Q15L) effectively controls tumor growth in larger established tumors and improves survival; Figure S7. Treatment schedule and individual tumor growth curves of Sox2-positive tumors
Published: 2023

12. Data from Inhibition of ATM Increases Interferon Signaling and Sensitizes Pancreatic Cancer to Immune Checkpoint Blockade Therapy

Author: Meredith A. Morgan, Weiping Zou, Theodore S. Lawrence, Yu L. Lei, Ilona Kryczek, Timothy L. Frankel, Marina Pasca di Magliano, Daniel R. Wahl, Nithya Ramnath, Jiaqi Shi, Leslie A. Parsels, Shuang Wei, Joshua D. Parsels, Jenny Lazarus, Xueting Lang, Michael D. Green, and Qiang Zhang
Abstract: Combinatorial strategies are needed to overcome the resistance of pancreatic cancer to immune checkpoint blockade (ICB). DNA damage activates the innate immune response and improves ICB efficacy. Because ATM is an apical kinase in the radiation-induced DNA damage response, we investigated the effects of ATM inhibition and radiation on pancreatic tumor immunogenicity. ATM was inhibited through pharmacologic and genetic strategies in human and murine pancreatic cancer models both in vitro and in vivo. Tumor immunogenicity was evaluated after ATM inhibition alone and in combination with radiation by assessing TBK1 and Type I interferon (T1IFN) signaling as well as tumor growth following PD-L1/PD-1 checkpoint inhibition. Inhibition of ATM increased tumoral T1IFN expression in a cGAS/STING-independent, but TBK1- and SRC-dependent, manner. The combination of ATM inhibition with radiation further enhanced TBK1 activity, T1IFN production, and antigen presentation. Furthermore, ATM silencing increased PD-L1 expression and increased the sensitivity of pancreatic tumors to PD-L1–blocking antibody in association with increased tumoral CD8+ T cells and established immune memory. In patient pancreatic tumors, low ATM expression inversely correlated with PD-L1 expression. Taken together, these results demonstrate that the efficacy of ICB in pancreatic cancer is enhanced by ATM inhibition and further potentiated by radiation as a function of increased tumoral immunogenicity, underscoring the potential of ATM inhibition in combination with ICB and radiation as an efficacious treatment strategy for pancreatic cancer.Significance:This study demonstrates that ATM inhibition induces a T1IFN-mediated innate immune response in pancreatic cancer that is further enhanced by radiation and leads to increased sensitivity to anti–PD-L1 therapy.See related commentary by Gutiontov and Weichselbaum, p. 3815
Published: 2023

13. Data from Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine

Author: Yu L. Lei, Duxin Sun, Gregory T. Wolf, Robert L. Ferris, Jacques E. Nör, Thomas E. Carey, Simon Young, Qianming Chen, Peter J. Polverini, Hongwei Chen, Hongxiang Hu, Emily Bellile, Xinyi Zhao, Blake R. Heath, Xiaobo Luo, Christopher R. Donnelly, Yuying Xie, Kanokwan Sansanaphongpricha, and Yee Sun Tan
Abstract: Purpose: The response rates of Head and Neck Squamous Cell Carcinoma (HNSCC) to checkpoint blockade are below 20%. We aim to develop a mechanism-based vaccine to prevent HNSCC immune escape.Experimental Design: We performed RNA-Seq of sensitive and resistant HNSCC cells to discover central pathways promoting resistance to immune killing. Using biochemistry, animal models, HNSCC microarray, and immune cell deconvolution, we assessed the role of SOX2 in inhibiting STING-type I interferon (IFN-I) signaling-mediated antitumor immunity. To bypass SOX2-potentiated STING suppression, we engineered a novel tumor antigen–targeted nanosatellite vehicle to enhance the efficacy of STING agonist and sensitize SOX2-expressing HNSCC to checkpoint blockade.Results: The DNA-sensing defense response is the most suppressed pathway in immune-resistant HNSCC cells. We identified SOX2 as a novel inhibitor of STING. SOX2 facilitates autophagy-dependent degradation of STING and inhibits IFN-I signaling. SOX2 potentiates an immunosuppressive microenvironment and promotes HNSCC growth in vivo in an IFN-I-dependent fashion. Our unique nanosatellite vehicle significantly enhances the efficacy of STING agonist. We show that the E6/E7–targeted nanosatellite vaccine expands the tumor-specific CD8+ T cells by over 12-fold in the tumor microenvironment and reduces tumor burden. A combination of nanosatellite vaccine with anti-PD-L1 significantly expands tumor-specific CTLs and limits the populations expressing markers for exhaustion, resulting in more effective tumor control and improved survival.Conclusions: SOX2 dampens the immunogenicity of HNSCC by targeting the STING pathway for degradation. The nanosatellite vaccine offers a novel and effective approach to enhance the adjuvant potential of STING agonist and break cancer tolerance to immunotherapy. Clin Cancer Res; 24(17); 4242–55. ©2018 AACR.
Published: 2023

14. Supplementary Figure Legends from Inhibition of ATM Increases Interferon Signaling and Sensitizes Pancreatic Cancer to Immune Checkpoint Blockade Therapy

Author: Meredith A. Morgan, Weiping Zou, Theodore S. Lawrence, Yu L. Lei, Ilona Kryczek, Timothy L. Frankel, Marina Pasca di Magliano, Daniel R. Wahl, Nithya Ramnath, Jiaqi Shi, Leslie A. Parsels, Shuang Wei, Joshua D. Parsels, Jenny Lazarus, Xueting Lang, Michael D. Green, and Qiang Zhang
Abstract: SF1 Legend: ATM regulates type I interferon signaling in pancreatic cancer. SF2 Legend: ATM regulation of the type I interferon pathway is cGAS/STING independent but SRC dependent. SF3 Legend: ATM inhibition cooperates with radiation to activate type I interferon signaling. SF4 Legend: ATM regulates pancreatic tumor immunity and ICB efficacy in vivo.
Published: 2023

15. Supplementary Table S1 from Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine

Author: Yu L. Lei, Duxin Sun, Gregory T. Wolf, Robert L. Ferris, Jacques E. Nör, Thomas E. Carey, Simon Young, Qianming Chen, Peter J. Polverini, Hongwei Chen, Hongxiang Hu, Emily Bellile, Xinyi Zhao, Blake R. Heath, Xiaobo Luo, Christopher R. Donnelly, Yuying Xie, Kanokwan Sansanaphongpricha, and Yee Sun Tan
Abstract: List of deferentially expressed genes in HNSCC cancer cells resistant to immune killing
Published: 2023

16. Supervised capacity preserving mapping: a clustering guided visualization method for scRNA-seq data

Author: Zhiqian Zhai, Yu L Lei, Rongrong Wang, and Yuying Xie
Subjects: Statistics and Probability, Computational Mathematics, Computational Theory and Mathematics, Sequence Analysis, RNA, Gene Expression Profiling, Cluster Analysis, Single-Cell Analysis, Molecular Biology, Biochemistry, Algorithms, Computer Science Applications
Abstract: Motivation The rapid development of scRNA-seq technologies enables us to explore the transcriptome at the cell level on a large scale. Recently, various computational methods have been developed to analyze the scRNAseq data, such as clustering and visualization. However, current visualization methods, including t-SNE and UMAP, are challenged by the limited accuracy of rendering the geometric relationship of populations with distinct functional states. Most visualization methods are unsupervised, leaving out information from the clustering results or given labels. This leads to the inaccurate depiction of the distances between the bona fide functional states. In particular, UMAP and t-SNE are not optimal to preserve the global geometric structure. They may result in a contradiction that clusters with near distance in the embedded dimensions are in fact further away in the original dimensions. Besides, UMAP and t-SNE cannot track the variance of clusters. Through the embedding of t-SNE and UMAP, the variance of a cluster is not only associated with the true variance but also is proportional to the sample size. Results We present supCPM, a robust supervised visualization method, which separates different clusters, preserves the global structure and tracks the cluster variance. Compared with six visualization methods using synthetic and real datasets, supCPM shows improved performance than other methods in preserving the global geometric structure and data variance. Overall, supCPM provides an enhanced visualization pipeline to assist the interpretation of functional transition and accurately depict population segregation. Availability and implementation The R package and source code are available at https://zenodo.org/record/5975977#.YgqR1PXMJjM. Supplementary information Supplementary data are available at Bioinformatics online.
Published: 2022

17. T cell receptor richness in peripheral blood increases after cetuximab therapy and correlates with therapeutic response

Author: Benjamin A. Kansy, Gulidanna Shayan, Hyun-Bae Jie, Sandra P. Gibson, Yu L. Lei, Sven Brandau, Stephan Lang, Nicole C Schmitt, Fei Ding, Yan Lin, and Robert L. Ferris
Subjects: tcr, immunosequencing, cetuximab, egfr, cytotoxic t cells, head and neck cancer, immunotherapy, Immunologic diseases. Allergy, RC581-607, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: The role of T cell receptor (TCR) signaling for adaptive immune responses is essential. The ability to respond to a broad spectrum of tumor antigens requires an adaptive selection of various TCR. So far, little is known about the role of TCR richness and clonality in the cellular immune response to head and neck cancer (HNC), though the Endothelial Growth Factor Receptor (EGFR)-specific CD8+ T cell response can be enhanced by cetuximab therapy. Therefore, we investigated differences in TCR sequences between human papillomavirus (HPV)+ and HPV− HNC patients, as well as differences in TCR sequence characteristics between T cells of peripheral blood mononuclear cells (PBMC) and tumor infiltrating lymphocytes (TIL). Additionally, we were able to investigate the TCR richness and clonality in samples pre- and post- treatment in a prospective clinical trial of neoadjuvant cetuximab. Interestingly, HPV+ and HPV− HNSCC did not significantly differ in the extent of TCR clonality and richness in PBMC or TIL. However, neoadjuvant cetuximab treatment increased the number of unique TCR sequences in PBMC (p = 0.0003), which was more prominent in the clinical responder patients compared to non-responders (p = 0.04). A trend toward TCR gene focusing was observed in TIL (p = 0.1) post-treatment. Thus, an increase in richness of TCR sequences in the periphery with a focusing at the tumor site is associated with an improved treatment response, suggesting an influence of peripheral quantity and intratumoral quality on adaptive immunity in cetuximab treated patients.
Published: 2018
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18. Combined Pik3ca-H1047R and loss-of-function Notch1 alleles decrease survival time in a 4-nitroquinoline N-oxide-driven head and neck squamous cell carcinoma model

Author: Nicole L. Michmerhuizen, Caitlin Heenan, Jiayu Wang, Elizabeth Leonard, Emily Bellile, Sampath K. Loganathan, Sunny Y. Wong, Yu L. Lei, and J. Chad Brenner
Subjects: Cancer Research, Oncology, Class I Phosphatidylinositol 3-Kinases, Head and Neck Neoplasms, Squamous Cell Carcinoma of Head and Neck, Mutation, Humans, Oxides, Oral Surgery, Receptor, Notch1, 4-Nitroquinoline-1-oxide, Alleles
Published: 2022

19. The Interactions Between

Author: Yujie, Zhou, Lei, Cheng, Yu L, Lei, Biao, Ren, and Xuedong, Zhou
Subjects: Candida albicans, immune escape, Review, immune recognition, immune cell, Microbiology, mucosa
Abstract: Mucosa protects the body against external pathogen invasion. However, pathogen colonies on the mucosa can invade the mucosa when the immunosurveillance is compromised, causing mucosal infection and subsequent diseases. Therefore, it is necessary to timely and effectively monitor and control pathogenic microorganisms through mucosal immunity. Candida albicans is the most prevalent fungi on the mucosa. The C. albicans colonies proliferate and increase their virulence, causing severe infectious diseases and even death, especially in immunocompromised patients. The normal host mucosal immune defense inhibits pathogenic C. albicans through stepwise processes, such as pathogen recognition, cytokine production, and immune cell phagocytosis. Herein, the current advances in the interactions between C. albicans and host mucosal immune defenses have been summarized to improve understanding on the immune mechanisms against fungal infections.
Published: 2021

20. Generation and Culture of Mouse Embryonic Fibroblasts

Author: Yee Sun, Tan and Yu L, Lei
Subjects: Mice, Cell Culture Techniques, Animals, Endothelial Cells, Cell Differentiation, Epithelial Cells, Fibroblasts, Embryo, Mammalian, Article, Signal Transduction
Abstract: In addition to leukocytes, a variety of cells also participate in the innate immune response, including endothelial cells, epithelial cells, and fibroblasts. Thus, the study of these cells is highly relevant in broadening our understanding of mechanisms that modulate innate immunity. With the rise of genetically engineered animals, it is now common to confirm in vitro data acquired using immortalized cell lines with more physiologically relevant primary cells from these animals ex vivo. Indeed, many studies exploring innate immune system function employ mouse embryonic fibroblasts (MEFs). These cells are relatively simple to generate and are a powerful tool to explore regulatory networks, examine biochemical profiling of protein complexes, and investigate novel signaling pathways associated with innate immune system signaling. Here, we provide a robust protocol to isolate, maintain, and store primary MEFs. This protocol is designed for users with minimal experience using mouse models. We have also added precautions and common pitfalls associated with these procedures.
Published: 2019

21. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, D.W. (David W), Okada, Y. (Yukinori), Moore, K.H.S. (Kristjan H S), Mason, D. (Dan), Pirastu, N. (Nicola), Gandin, I. (Ilaria), Mattsson, H. (Hannele), Barnes, C.L.K. (Catriona L K), Lin, K. (Kuang), Zhao, J.H. (Jing Hua), Deelen, P. (Patrick), Rohde, R. (Rebecca), Schurmann, C. (Claudia), Guo, X. (Xiuqing), Giulianini, F. (Franco), Zhang, W. (Weihua), Medina-Gomez, M.C. (Carolina), Karlsson, R. (Robert), Bao, Y. (Yanchun), Bartz, T.M. (Traci M), Baumbach, C. (Clemens), Biino, G. (Ginevra), Bixley, M.J. (Matthew J), Brumat, M. (Marco), Chai, J.-F. (Jin-Fang), Corre, T. (Tanguy), Cousminer, D.L. (Diana), Dekker, A.M. (Annelot M), Eccles, D.A. (David A), Eijk, K.R. (Kristel) van, Fuchsberger, C. (Christian), Gao, H. (He), Germain, M. (Marine), Gordon, S.D. (Scott D.), de Haan, H.G. (Hugoline G), Harris, S.E. (Sarah), Hofer, E. (Edith), Huerta-Chagoya, A. (Alicia), Igartua, C. (Catherine), Jansen, I. (Iris), Jia, Y. (Yucheng), Kacprowski, T. (Tim), Karlsson, T. (Torgny), Kleber, M.E. (Marcus), Li, S.A. (Shengchao Alfred), Li-Gao, R. (Ruifang), Mahajan, A. (Anubha), Matsuda, K. (Koichi), Meidtner, K. (Karina), Meng, W. (Weihua), Montasser, M.E. (May E.), Most, P.J. (Peter) van der, Munz, M. (Matthias), Nutile, T. (Teresa), Palviainen, T. (Teemu), Prasad, G. (Gauri), Prasad, R.B. (Rashmi B), Priyanka, T.D.S. (Tallapragada Divya Sri), Rizzi, F. (Federica), Salvi, E. (Erika), Sapkota, B.R. (Bishwa R), Shriner, D. (Daniel), Skotte, L. (Line), Smart, M.C. (Melissa C), Smith, A.V. (Albert), Spek, A. (Ashley) van der, Spracklen, C.N. (Cassandra N), Strawbridge, R.J. (Rona), Tajuddin, S.M. (Salman M), Trompet, S. (Stella), Turman, C. (Constance), Verweij, N. (Niek), Viberti, C. (Clara), Wang, L. (Lihua), Warren, H. (Helen), Wootton, R.E. (Robyn E), Yanek, L.R. (Lisa), Yao, J. (Jie), Yousri, N.A. (Noha A), Zhao, W. (Wei), Adeyemo, A.A. (Adebowale A), Afaq, S. (Saima), Aguilar-Salinas, C.A. (Carlos Alberto), Akiyama, M. (Masato), Albert, M.L. (Matthew L), Allison, M.A. (Matthew A), Alver, M. (Maris), Aung, T. (Tin), Azizi, J. (Joshan), Bentley, A.R. (Amy), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Borja, J.B. (Judith B), Borst, G.J. (Gert) de, Bottinger, E.P. (Erwin), Broer, L. (Linda), Campbell, H. (Harry), Chanock, S.J. (Stephen), Chee, M.-L. (Miao-Li), Chen, G. (Guanjie), Chen, Y.-D.I. (Yii-Der I), Chen, Z. (Zhengming), Chiu, Y.-F. (Yen-Feng), Cocca, M. (Massimiliano), Collins, F.S. (Francis), Concas, M.P. (Maria Pina), Corley, J. (Janie), Cugliari, G. (Giovanni), Dam, R.M. (Rob) van, Damulina, A. (Anna), Daneshpour, M.S. (Maryam S), Day, F.R. (Felix), Delgado, G., Dhana, K. (Klodian), Doney, A.S.F. (Alex), Dörr, M. (Marcus), Doumatey, A. (Ayo), Dzimiri, N. (Nduna), Ebenesersdóttir, S.S. (S Sunna), Elliott, J. (Joshua), Elliott, P. (Paul), Ewert, R. (Ralf), Felix, J.F. (Janine), Fischer, K. (Krista), Freedman, B.I. (Barry), Girotto, S., Goel, A. (Anuj), Gögele, M. (Martin), Goodarzi, M. (Mark), Graff, M.J. (Maud J.L.), Granot-Hershkovitz, E. (Einat), Grodstein, F. (Francine), Guarrera, S. (Simonetta), Gudbjartsson, D.F. (Daniel), Guity, K. (Kamran), Gunnarsson, B. (Bjarni), Guo, Y. (Yu), Hagenaars, S.P. (Saskia P), Haiman, C.A. (Christopher), Halevy, A. (Avner), Harris, T.B. (Tamara B), Hedayati, M. (Mehdi), Heel, D.A. (David) van, Hirata, M. (Makoto), Höfer, I. (Imo), Hsiung, C.A. (Chao Agnes), Huang, J. (Jinyan), Hung, Y.-J. (Yi-Jen), Ikram, M.A. (Arfan), Jagadeesan, A. (Anuradha), Jousilahti, P. (Pekka), Kamatani, Y. (Yoichiro), Kanai, M. (Masahiro), Kerrison, N.D. (Nicola D), Kessler, T. (Thorsten), Khaw, K.-T. (Kay-Tee), Khor, C.C., Kleijn, D.P.V. (Dominique) de, Koh, W.-P. (Woon-Puay), Kolcic, I. (Ivana), Kraft, P. (Peter), Krämer, B.K. (Bernhard), Kutalik, Z. (Zoltán), Kuusisto, J. (Johanna), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lawlor, D.A. (Debbie), Lee, I.-T. (I-Te), Lee, W.-J. (Wen-Jane), Lerch, M. (M.), Li, L. (Liming), Liu, J. (Jianjun), Loh, M. (Marie), London, S.J. (Stephanie J), Loomis, S.J. (Stephanie J.), Lu, Y. (Yingchang), Luan, J. (Jian’an), Mägi, R. (Reedik), Manichaikul, A.W. (Ani W), Manunta, P. (Paolo), Masson, G. (Gisli), Matoba, N. (Nana), Mei, X.W. (Xue W), Meisinger, C. (Christa), Meitinger, T. (Thomas), Mezzavilla, M. (Massimo), Milani, L. (Lili), Millwood, I.Y. (Iona), Momozawa, Y. (Yukihide), Moore, A. (Amy), Morange, P.-E. (P.), Moreno-Macías, H. (Hortensia), Mori, T.A. (Trevor A), Morrison, A.C. (Alanna), Muka, T. (Taulant), Murakami, Y. (Yoshinori), Murray, A.D. (Alison D), Mutsert, R. (Reneé) de, Mychaleckyj, J.C. (Josyf), Nalls, M.A. (Michael), Nauck, M. (Matthias), Neville, M.J. (Matthew), Nolte, I.M. (Ilja), Ong, K.K. (Ken K), Orozco, L. (Lorena), Padmanabhan, S. (Sandosh), Pálsson, G. (Gunnar), Palmer, C.N.A. (Colin), Penninx, B.W.J.H., Pattie, A. (Alison), Polasek, O. (Ozren), Poulter, N.R. (Neil), Pramstaller, P.P. (Peter P), Quintana-Murci, L. (Lluis), Räikkönen, K. (Katri), Ralhan, S. (Sarju), Rao, D.C. (Dabeeru C), Rheenen, W. (Wouter) van, Rich, S.S. (Stephen), Ridker, P.M. (Paul M), Rietveld, C.A. (Cornelius A), Robino, A. (Antonietta), Rooij, F.J.A. (Frank) van, Ruggiero, D., Saba, Y. (Yasaman), Sabanayagam, C. (Charumathi), Sabater-Lleal, M. (Maria), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sandow, K. (Kevin), Schmidt, H. (Helena), Scott, L.J. (Laura J), Scott, W.R. (William R), Sedaghati-Khayat, B. (Bahareh), Sennblad, B. (Bengt), Setten, J. (Jessica) van, Sever, P.J. (Peter J), Sheu, W.H.-H. (Wayne H-H), Shi, Y. (Yuan), Shrestha, S. (Smeeta), Shukla, S.R. (Sharvari Rahul), Sigurdsson, J.K. (Jon K), Sikka, T.T. (Timo Tonis), Singh, J.R. (Jai Rup), Smith, B.H. (Blair), Stancáková, A. (Alena), Stanton, A. (Alice), Starr, J.M. (John), Stefansdottir, L. (Lilja), Straker, L. (Leon), Sulem, P. (Patrick), Sveinbjornsson, G. (Gardar), Swertz, M.A. (Morris A), Taylor, A.M. (Adele M), Taylor, K.D. (Kent), Terzikhan, N. (Natalie), Tham, Y.-C. (Yih-Chung), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Tillander, A. (Annika), Tracy, R.P. (Russell), Tusié-Luna, T. (Teresa), Tzoulaki, I., Vaccargiu, S. (Simona), Vangipurapu, J. (Jagadish), Veldink, J.H. (Jan), Vitart, V. (Veronique), Völker, U. (Uwe), Vuoksimaa, E. (Eero), Wakil, S.M. (Salma M), Waldenberger, M. (Melanie), Wander, G.S. (Gurpreet S), Wang, Y.X. (Ya Xing), Wareham, N.J. (Nick), Wild, S.H. (Sarah), Yajnik, C.S. (Chittaranjan S), Yuan, J.-M. (Jian-Min), Zeng, L. (Lingyao), Zhang, L. (Liang), Zhou, J. (Jie), Amin, N. (Najaf), Asselbergs, F.W. (Folkert), Bakker, S.J.L. (Stephan), Becker, D.M. (Diane), Lehne, B. (Benjamin), Bennett, D.A. (David), Berg, L.H. (Leonard) van den, Berndt, S.I. (Sonja), Bharadwaj, D. (Dwaipayan), Bielak, L.F. (Lawrence F.), Bochud, M. (Murielle), Boehnke, M. (Michael), Bouchard, C. (Claude), Bradfield, J.P. (Jonathan), Brody, J.A. (Jennifer A), Campbell, A. (Archie), Carmi, S. (Shai), Caulfield, M. (Mark), Cesarini, D. (David), Chambers, J.C. (John C), Chandak, G.R. (Giriraj), Cheng, C.-Y. (Ching-Yu), Ciullo, M. (Marina), Warrington, N.M. (Nicole), Cusi, D. (Daniele), Smith, G.D. (George Davey), Deary, I.J. (Ian J), Dorajoo, R. (Rajkumar), Duijn, C.M. (Cornelia) van, Ellinghaus, D. (David), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evangelou, E. (Evangelos), Evans, M.K. (Michele), Faul, J.D. (Jessica D), Feenstra, B. (Bjarke), Feitosa, M.F. (Mary Furlan), Foisy, S. (Sylvain), Franke, A. (Andre), Friedlander, Y. (Yechiel), Gasparini, P. (Paolo), Gieger, C. (Christian), Gonzalez, C. (Clicerio), Goyette, P. (Philippe), Grant, S.F.A. (Struan), Griffiths, L.R. (Lyn R), Groop, L. (Leif), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hakonarson, H. (Hakon), Hamsten, A. (Anders), Harst, P. (Pim) van der, Heng, C.K. (Chew-Kiat), Hicks, A.A. (Andrew A), Hochner, H., Huikuri, H.V. (Heikki), Hunt, S.C. (Steven), Jaddoe, V.W.V. (Vincent), De Jager, P., Johannesson, M. (Magnus), Johansson, A. (Åsa), Jonas, J.B. (Jost B), Jukema, J.W. (Jan Wouter), Junttila, M.J. (Juhani), Kaprio, J. (Jaakko), Kardia, S.L.R. (Sharon), Karpe, F. (Fredrik), Kumari, M. (Meena), Laakso, M. (Markku), van der Laan, S.W. (Sander W), Lahti, J. (Jari), Laudes, M. (Matthias), Lea, R.A. (Rodney A), Lieb, W. (Wolfgang), Lumley, T. (Thomas), Martin, N.G. (Nicholas), Ye, S. (Shu), Matullo, G., McCarthy, M.I. (Mark), Medland, S.E. (Sarah), Merriman, A., Metspalu, A. (Andres), Meyer, B.F. (Brian F), Mohlke, K.L. (Karen L), Montgomery, G.W. (Grant), Mook-Kanamori, D. (Dennis), Munroe, P. (Patricia), North, K.E. (Kari), Nyholt, D.R. (Dale), O’connell, J.R. (Jeffery R), Ober, C. (Carole), Oldehinkel, A.J. (Albertine), Palmas, W. (Walter), Pasterkamp, G.G. (Gerard G), Patin, E. (Etienne), Pennell, C.E. (Craig), Perusse, L. (Louis), Peyser, P.A. (Patricia A.), Pirastu, M. (Mario), Polderman, T.J.C. (Tinca), Porteous, D.J. (David J.), Posthuma, D. (Danielle), Psaty, B.M. (Bruce M), Rioux, J.D. (John), Rivadeneira, F. (Fernando), Rotimi, C. (Charles), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Sanghera, D.K. (Dharambir K), Sattar, N. (Naveed), Schmidt, R. (Reinhold), Schulze, M.B. (Matthias), Schunkert, H. (Heribert), Scott, R.A. (Robert), Shuldiner, A.R. (Alan R), Sim, X. (Xueling), Small, N. (Neil), Smith, J.A. (Jennifer A), Sotoodehnia, N. (Nona), Tai, E.-S. (E-Shyong), Teumer, A. (Alexander), Timpson, N.J. (Nicholas), Toniolo, D. (Daniela), Tregouet, D.-A. (David-Alexandre), Tuomi, T. (Tiinamaija), Vollenweider, P. (Peter), Wang, C.A. (Carol A), Weir, D.R. (David R), Whitfield, J. (John), Wijmenga, C. (Cisca), Wong, T.-Y. (Tien-Yin), Wright, J. (John), Yang, J. (Jingyun), Yu, L. (Lei), Zemel, B.S. (Babette S.), Zonderman, A.B. (Alan B), Perola, M. (Markus), Magnusson, P.K. (Patrik), Uitterlinden, A.G. (André), Kooner, J.S. (Jaspal S.), Chasman, D.I. (Daniel), Loos, R.J.F. (Ruth), Franceschini, N. (Nora), Franke, L. (Lude), Haley, C. (Chris), Hayward, C. (Caroline), Walters, R.G. (Robin G), Perry, J.R.B. (John R. B.), Esko, T. (Tõnu), Helgason, A. (Agnar), Zwart, J-A. (John-Anker), Joshi, P.K. (Peter), Kubo, M. (Michiaki), Wilson, J.F. (James), Clark, D.W. (David W), Okada, Y. (Yukinori), Moore, K.H.S. (Kristjan H S), Mason, D. (Dan), Pirastu, N. (Nicola), Gandin, I. (Ilaria), Mattsson, H. (Hannele), Barnes, C.L.K. (Catriona L K), Lin, K. (Kuang), Zhao, J.H. (Jing Hua), Deelen, P. (Patrick), Rohde, R. (Rebecca), Schurmann, C. (Claudia), Guo, X. (Xiuqing), Giulianini, F. (Franco), Zhang, W. (Weihua), Medina-Gomez, M.C. (Carolina), Karlsson, R. (Robert), Bao, Y. (Yanchun), Bartz, T.M. (Traci M), Baumbach, C. (Clemens), Biino, G. (Ginevra), Bixley, M.J. (Matthew J), Brumat, M. (Marco), Chai, J.-F. (Jin-Fang), Corre, T. (Tanguy), Cousminer, D.L. (Diana), Dekker, A.M. (Annelot M), Eccles, D.A. (David A), Eijk, K.R. (Kristel) van, Fuchsberger, C. (Christian), Gao, H. (He), Germain, M. (Marine), Gordon, S.D. (Scott D.), de Haan, H.G. (Hugoline G), Harris, S.E. (Sarah), Hofer, E. (Edith), Huerta-Chagoya, A. (Alicia), Igartua, C. (Catherine), Jansen, I. (Iris), Jia, Y. (Yucheng), Kacprowski, T. (Tim), Karlsson, T. (Torgny), Kleber, M.E. (Marcus), Li, S.A. (Shengchao Alfred), Li-Gao, R. (Ruifang), Mahajan, A. (Anubha), Matsuda, K. (Koichi), Meidtner, K. (Karina), Meng, W. (Weihua), Montasser, M.E. (May E.), Most, P.J. (Peter) van der, Munz, M. (Matthias), Nutile, T. (Teresa), Palviainen, T. (Teemu), Prasad, G. (Gauri), Prasad, R.B. (Rashmi B), Priyanka, T.D.S. (Tallapragada Divya Sri), Rizzi, F. (Federica), Salvi, E. (Erika), Sapkota, B.R. (Bishwa R), Shriner, D. (Daniel), Skotte, L. (Line), Smart, M.C. (Melissa C), Smith, A.V. (Albert), Spek, A. (Ashley) van der, Spracklen, C.N. (Cassandra N), Strawbridge, R.J. (Rona), Tajuddin, S.M. (Salman M), Trompet, S. (Stella), Turman, C. (Constance), Verweij, N. (Niek), Viberti, C. (Clara), Wang, L. (Lihua), Warren, H. (Helen), Wootton, R.E. (Robyn E), Yanek, L.R. (Lisa), Yao, J. (Jie), Yousri, N.A. (Noha A), Zhao, W. (Wei), Adeyemo, A.A. (Adebowale A), Afaq, S. (Saima), Aguilar-Salinas, C.A. (Carlos Alberto), Akiyama, M. (Masato), Albert, M.L. (Matthew L), Allison, M.A. (Matthew A), Alver, M. (Maris), Aung, T. (Tin), Azizi, J. (Joshan), Bentley, A.R. (Amy), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Borja, J.B. (Judith B), Borst, G.J. (Gert) de, Bottinger, E.P. (Erwin), Broer, L. (Linda), Campbell, H. (Harry), Chanock, S.J. (Stephen), Chee, M.-L. (Miao-Li), Chen, G. (Guanjie), Chen, Y.-D.I. (Yii-Der I), Chen, Z. (Zhengming), Chiu, Y.-F. (Yen-Feng), Cocca, M. (Massimiliano), Collins, F.S. (Francis), Concas, M.P. (Maria Pina), Corley, J. (Janie), Cugliari, G. (Giovanni), Dam, R.M. (Rob) van, Damulina, A. (Anna), Daneshpour, M.S. (Maryam S), Day, F.R. (Felix), Delgado, G., Dhana, K. (Klodian), Doney, A.S.F. (Alex), Dörr, M. (Marcus), Doumatey, A. (Ayo), Dzimiri, N. (Nduna), Ebenesersdóttir, S.S. (S Sunna), Elliott, J. (Joshua), Elliott, P. (Paul), Ewert, R. (Ralf), Felix, J.F. (Janine), Fischer, K. (Krista), Freedman, B.I. (Barry), Girotto, S., Goel, A. (Anuj), Gögele, M. (Martin), Goodarzi, M. (Mark), Graff, M.J. (Maud J.L.), Granot-Hershkovitz, E. (Einat), Grodstein, F. (Francine), Guarrera, S. (Simonetta), Gudbjartsson, D.F. (Daniel), Guity, K. (Kamran), Gunnarsson, B. (Bjarni), Guo, Y. (Yu), Hagenaars, S.P. (Saskia P), Haiman, C.A. (Christopher), Halevy, A. (Avner), Harris, T.B. (Tamara B), Hedayati, M. (Mehdi), Heel, D.A. (David) van, Hirata, M. (Makoto), Höfer, I. (Imo), Hsiung, C.A. (Chao Agnes), Huang, J. (Jinyan), Hung, Y.-J. (Yi-Jen), Ikram, M.A. (Arfan), Jagadeesan, A. (Anuradha), Jousilahti, P. (Pekka), Kamatani, Y. (Yoichiro), Kanai, M. (Masahiro), Kerrison, N.D. (Nicola D), Kessler, T. (Thorsten), Khaw, K.-T. (Kay-Tee), Khor, C.C., Kleijn, D.P.V. (Dominique) de, Koh, W.-P. (Woon-Puay), Kolcic, I. (Ivana), Kraft, P. (Peter), Krämer, B.K. (Bernhard), Kutalik, Z. (Zoltán), Kuusisto, J. (Johanna), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lawlor, D.A. (Debbie), Lee, I.-T. (I-Te), Lee, W.-J. (Wen-Jane), Lerch, M. (M.), Li, L. (Liming), Liu, J. (Jianjun), Loh, M. (Marie), London, S.J. (Stephanie J), Loomis, S.J. (Stephanie J.), Lu, Y. (Yingchang), Luan, J. (Jian’an), Mägi, R. (Reedik), Manichaikul, A.W. (Ani W), Manunta, P. (Paolo), Masson, G. (Gisli), Matoba, N. (Nana), Mei, X.W. (Xue W), Meisinger, C. (Christa), Meitinger, T. (Thomas), Mezzavilla, M. (Massimo), Milani, L. (Lili), Millwood, I.Y. (Iona), Momozawa, Y. (Yukihide), Moore, A. (Amy), Morange, P.-E. (P.), Moreno-Macías, H. (Hortensia), Mori, T.A. (Trevor A), Morrison, A.C. (Alanna), Muka, T. (Taulant), Murakami, Y. (Yoshinori), Murray, A.D. (Alison D), Mutsert, R. (Reneé) de, Mychaleckyj, J.C. (Josyf), Nalls, M.A. (Michael), Nauck, M. (Matthias), Neville, M.J. (Matthew), Nolte, I.M. (Ilja), Ong, K.K. (Ken K), Orozco, L. (Lorena), Padmanabhan, S. (Sandosh), Pálsson, G. (Gunnar), Palmer, C.N.A. (Colin), Penninx, B.W.J.H., Pattie, A. (Alison), Polasek, O. (Ozren), Poulter, N.R. (Neil), Pramstaller, P.P. (Peter P), Quintana-Murci, L. (Lluis), Räikkönen, K. (Katri), Ralhan, S. (Sarju), Rao, D.C. (Dabeeru C), Rheenen, W. (Wouter) van, Rich, S.S. (Stephen), Ridker, P.M. (Paul M), Rietveld, C.A. (Cornelius A), Robino, A. (Antonietta), Rooij, F.J.A. (Frank) van, Ruggiero, D., Saba, Y. (Yasaman), Sabanayagam, C. (Charumathi), Sabater-Lleal, M. (Maria), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sandow, K. (Kevin), Schmidt, H. (Helena), Scott, L.J. (Laura J), Scott, W.R. (William R), Sedaghati-Khayat, B. (Bahareh), Sennblad, B. (Bengt), Setten, J. (Jessica) van, Sever, P.J. (Peter J), Sheu, W.H.-H. (Wayne H-H), Shi, Y. (Yuan), Shrestha, S. (Smeeta), Shukla, S.R. (Sharvari Rahul), Sigurdsson, J.K. (Jon K), Sikka, T.T. (Timo Tonis), Singh, J.R. (Jai Rup), Smith, B.H. (Blair), Stancáková, A. (Alena), Stanton, A. (Alice), Starr, J.M. (John), Stefansdottir, L. (Lilja), Straker, L. (Leon), Sulem, P. (Patrick), Sveinbjornsson, G. (Gardar), Swertz, M.A. (Morris A), Taylor, A.M. (Adele M), Taylor, K.D. (Kent), Terzikhan, N. (Natalie), Tham, Y.-C. (Yih-Chung), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Tillander, A. (Annika), Tracy, R.P. (Russell), Tusié-Luna, T. (Teresa), Tzoulaki, I., Vaccargiu, S. (Simona), Vangipurapu, J. (Jagadish), Veldink, J.H. (Jan), Vitart, V. (Veronique), Völker, U. (Uwe), Vuoksimaa, E. (Eero), Wakil, S.M. (Salma M), Waldenberger, M. (Melanie), Wander, G.S. (Gurpreet S), Wang, Y.X. (Ya Xing), Wareham, N.J. (Nick), Wild, S.H. (Sarah), Yajnik, C.S. (Chittaranjan S), Yuan, J.-M. (Jian-Min), Zeng, L. (Lingyao), Zhang, L. (Liang), Zhou, J. (Jie), Amin, N. (Najaf), Asselbergs, F.W. (Folkert), Bakker, S.J.L. (Stephan), Becker, D.M. (Diane), Lehne, B. (Benjamin), Bennett, D.A. (David), Berg, L.H. (Leonard) van den, Berndt, S.I. (Sonja), Bharadwaj, D. (Dwaipayan), Bielak, L.F. (Lawrence F.), Bochud, M. (Murielle), Boehnke, M. (Michael), Bouchard, C. (Claude), Bradfield, J.P. (Jonathan), Brody, J.A. (Jennifer A), Campbell, A. (Archie), Carmi, S. (Shai), Caulfield, M. (Mark), Cesarini, D. (David), Chambers, J.C. (John C), Chandak, G.R. (Giriraj), Cheng, C.-Y. (Ching-Yu), Ciullo, M. (Marina), Warrington, N.M. (Nicole), Cusi, D. (Daniele), Smith, G.D. (George Davey), Deary, I.J. (Ian J), Dorajoo, R. (Rajkumar), Duijn, C.M. (Cornelia) van, Ellinghaus, D. (David), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evangelou, E. (Evangelos), Evans, M.K. (Michele), Faul, J.D. (Jessica D), Feenstra, B. (Bjarke), Feitosa, M.F. (Mary Furlan), Foisy, S. (Sylvain), Franke, A. (Andre), Friedlander, Y. (Yechiel), Gasparini, P. (Paolo), Gieger, C. (Christian), Gonzalez, C. (Clicerio), Goyette, P. (Philippe), Grant, S.F.A. (Struan), Griffiths, L.R. (Lyn R), Groop, L. (Leif), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hakonarson, H. (Hakon), Hamsten, A. (Anders), Harst, P. (Pim) van der, Heng, C.K. (Chew-Kiat), Hicks, A.A. (Andrew A), Hochner, H., Huikuri, H.V. (Heikki), Hunt, S.C. (Steven), Jaddoe, V.W.V. (Vincent), De Jager, P., Johannesson, M. (Magnus), Johansson, A. (Åsa), Jonas, J.B. (Jost B), Jukema, J.W. (Jan Wouter), Junttila, M.J. (Juhani), Kaprio, J. (Jaakko), Kardia, S.L.R. (Sharon), Karpe, F. (Fredrik), Kumari, M. (Meena), Laakso, M. (Markku), van der Laan, S.W. (Sander W), Lahti, J. (Jari), Laudes, M. (Matthias), Lea, R.A. (Rodney A), Lieb, W. (Wolfgang), Lumley, T. (Thomas), Martin, N.G. (Nicholas), Ye, S. (Shu), Matullo, G., McCarthy, M.I. (Mark), Medland, S.E. (Sarah), Merriman, A., Metspalu, A. (Andres), Meyer, B.F. (Brian F), Mohlke, K.L. (Karen L), Montgomery, G.W. (Grant), Mook-Kanamori, D. (Dennis), Munroe, P. (Patricia), North, K.E. (Kari), Nyholt, D.R. (Dale), O’connell, J.R. (Jeffery R), Ober, C. (Carole), Oldehinkel, A.J. (Albertine), Palmas, W. (Walter), Pasterkamp, G.G. (Gerard G), Patin, E. (Etienne), Pennell, C.E. (Craig), Perusse, L. (Louis), Peyser, P.A. (Patricia A.), Pirastu, M. (Mario), Polderman, T.J.C. (Tinca), Porteous, D.J. (David J.), Posthuma, D. (Danielle), Psaty, B.M. (Bruce M), Rioux, J.D. (John), Rivadeneira, F. (Fernando), Rotimi, C. (Charles), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Sanghera, D.K. (Dharambir K), Sattar, N. (Naveed), Schmidt, R. (Reinhold), Schulze, M.B. (Matthias), Schunkert, H. (Heribert), Scott, R.A. (Robert), Shuldiner, A.R. (Alan R), Sim, X. (Xueling), Small, N. (Neil), Smith, J.A. (Jennifer A), Sotoodehnia, N. (Nona), Tai, E.-S. (E-Shyong), Teumer, A. (Alexander), Timpson, N.J. (Nicholas), Toniolo, D. (Daniela), Tregouet, D.-A. (David-Alexandre), Tuomi, T. (Tiinamaija), Vollenweider, P. (Peter), Wang, C.A. (Carol A), Weir, D.R. (David R), Whitfield, J. (John), Wijmenga, C. (Cisca), Wong, T.-Y. (Tien-Yin), Wright, J. (John), Yang, J. (Jingyun), Yu, L. (Lei), Zemel, B.S. (Babette S.), Zonderman, A.B. (Alan B), Perola, M. (Markus), Magnusson, P.K. (Patrik), Uitterlinden, A.G. (André), Kooner, J.S. (Jaspal S.), Chasman, D.I. (Daniel), Loos, R.J.F. (Ruth), Franceschini, N. (Nora), Franke, L. (Lude), Haley, C. (Chris), Hayward, C. (Caroline), Walters, R.G. (Robin G), Perry, J.R.B. (John R. B.), Esko, T. (Tõnu), Helgason, A. (Agnar), Zwart, J-A. (John-Anker), Joshi, P.K. (Peter), Kubo, M. (Michiaki), and Wilson, J.F. (James)
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
Published: 2019
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22. A genome-wide association study identifies genetic loci associated with specific lobar brain volumes

Author: Lee, S.J. (Sven) van der, Knol, M.J. (Maria J.), Chauhan, G. (Ganesh), Satizabal, C.L. (Claudia), Smith, A.V. (Albert), Hofer, E. (Edith), Bis, J.C. (Joshua), Hibar, D.P. (Derrek P.), Hilal, S. (Saima), Akker, E.B. (Erik) van den, Arfanakis, K. (Konstantinos), Bernard, M. (Manon), Yanek, L.R. (Lisa), Amin, N. (Najaf), Crivello, F. (Fabrice), Cheung, J.W. (Josh W.), Harris, T.B. (Tamara), Saba, Y. (Yasaman), Lopez, O.L. (Oscar), Li, S. (Shuo), van der Grond, J. (Jeroen), Yu, L. (Lei), Paus, T. (Tomas), Roshchupkin, G.V. (Gennady), Amouyel, P. (Philippe), Jahanshad, N. (Neda), Taylor, K.D. (Kent), Yang, Q. (Qiong), Mathias, R.A. (Rasika A.), Boehringer, S. (Stefan), Mazoyer, B. (Bernard), Rice, K. (Ken), Cheng, C.Y. (Ching Yu), Maillard, P. (Pauline), Heemst, D. (Diana) van, Wong, T.Y. (Tien Yin), Niessen, W.J. (Wiro), Beiser, A. (Alexa), Beekman, M. (Marian), Zhao, W. (Wanting), Nyquist, P. (Paul), Chen, C. (Christopher), Launer, L.J. (Lenore), Psaty, B.M. (Bruce M.), Ikram, M.K. (Kamran), Vernooij, M.W. (Meike W.), Schmidt, H. (Helena), Pausova, Z. (Zdenka), Becker, D.M. (Diane), De Jager, P., Thompson, P.M. (Paul), Duijn, C.M. (Cornelia) van, Bennett, D.A. (David), Slagboom, P.E. (Eline), Schmidt, R. (Reinhold), Longstreth Jr, W.T., Ikram, M.A. (Arfan), Seshadri, S. (Sudha), Debette, S. (Stéphanie), Gudnason, V. (Vilmundur), Adams, H.H.H. (Hieab H. H.), DeCarli, C. (Charles), Lee, S.J. (Sven) van der, Knol, M.J. (Maria J.), Chauhan, G. (Ganesh), Satizabal, C.L. (Claudia), Smith, A.V. (Albert), Hofer, E. (Edith), Bis, J.C. (Joshua), Hibar, D.P. (Derrek P.), Hilal, S. (Saima), Akker, E.B. (Erik) van den, Arfanakis, K. (Konstantinos), Bernard, M. (Manon), Yanek, L.R. (Lisa), Amin, N. (Najaf), Crivello, F. (Fabrice), Cheung, J.W. (Josh W.), Harris, T.B. (Tamara), Saba, Y. (Yasaman), Lopez, O.L. (Oscar), Li, S. (Shuo), van der Grond, J. (Jeroen), Yu, L. (Lei), Paus, T. (Tomas), Roshchupkin, G.V. (Gennady), Amouyel, P. (Philippe), Jahanshad, N. (Neda), Taylor, K.D. (Kent), Yang, Q. (Qiong), Mathias, R.A. (Rasika A.), Boehringer, S. (Stefan), Mazoyer, B. (Bernard), Rice, K. (Ken), Cheng, C.Y. (Ching Yu), Maillard, P. (Pauline), Heemst, D. (Diana) van, Wong, T.Y. (Tien Yin), Niessen, W.J. (Wiro), Beiser, A. (Alexa), Beekman, M. (Marian), Zhao, W. (Wanting), Nyquist, P. (Paul), Chen, C. (Christopher), Launer, L.J. (Lenore), Psaty, B.M. (Bruce M.), Ikram, M.K. (Kamran), Vernooij, M.W. (Meike W.), Schmidt, H. (Helena), Pausova, Z. (Zdenka), Becker, D.M. (Diane), De Jager, P., Thompson, P.M. (Paul), Duijn, C.M. (Cornelia) van, Bennett, D.A. (David), Slagboom, P.E. (Eline), Schmidt, R. (Reinhold), Longstreth Jr, W.T., Ikram, M.A. (Arfan), Seshadri, S. (Sudha), Debette, S. (Stéphanie), Gudnason, V. (Vilmundur), Adams, H.H.H. (Hieab H. H.), and DeCarli, C. (Charles)
Abstract: Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes.
Published: 2019
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23. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, D. W. (David W.), Okada, Y. (Yukinori), Moore, K. H. (Kristjan H. S.), Mason, D. (Dan), Pirastu, N. (Nicola), Gandin, I. (Ilaria), Mattsson, H. (Hannele), Barnes, C. L. (Catriona L. K.), Lin, K. (Kuang), Zhao, J. H. (Jing Hua), Deelen, P. (Patrick), Rohde, R. (Rebecca), Schurmann, C. (Claudia), Guo, X. (Xiuqing), Giulianini, F. (Franco), Zhang, W. (Weihua), Medina-Gomez, C. (Carolina), Karlsson, R. (Robert), Bao, Y. (Yanchun), Bartz, T. M. (Traci M.), Baumbach, C. (Clemens), Biino, G. (Ginevra), Bixley, M. J. (Matthew J.), Brumat, M. (Marco), Chai, J.-F. (Jin-Fang), Corre, T. (Tanguy), Cousminer, D. L. (Diana L.), Dekker, A. M. (Annelot M.), Eccles, D. A. (David A.), Van Eijk, K. R. (Kristel R.), Fuchsberger, C. (Christian), Gao, H. (He), Germain, M. (Marine), Gordon, S. D. (Scott D.), de Haan, H. G. (Hugoline G.), Harris, S. E. (Sarah E.), Hofer, E. (Edith), Huerta-Chagoya, A. (Alicia), Igartua, C. (Catherine), Jansen, I. E. (Iris E.), Jia, Y. (Yucheng), Kacprowski, T. (Tim), Karlsson, T. (Torgny), Kleber, M. E. (Marcus E.), Li, S. A. (Shengchao Alfred), Li-Gao, R. (Ruifang), Mahajan, A. (Anubha), Matsuda, K. (Koichi), Meidtner, K. (Karina), Meng, W. (Weihua), Montasser, M. E. (May E.), van der Most, P. J. (Peter J.), Munz, M. (Matthias), Nutile, T. (Teresa), Palviainen, T. (Teemu), Prasad, G. (Gauri), Prasad, R. B. (Rashmi B.), Priyanka, T. D. (Tallapragada Divya Sri), Rizzi, F. (Federica), Salvi, E. (Erika), Sapkota, B. R. (Bishwa R.), Shriner, D. (Daniel), Skotte, L. (Line), Smart, M. C. (Melissa C.), Smith, A. V. (Albert Vernon), van der Spek, A. (Ashley), Spracklen, C. N. (Cassandra N.), Strawbridge, R. J. (Rona J.), Tajuddin, S. M. (Salman M.), Trompet, S. (Stella), Turman, C. (Constance), Verweij, N. (Niek), Viberti, C. (Clara), Wang, L. (Lihua), Warren, H. R. (Helen R.), Wootton, R. E. (Robyn E.), Yanek, L. R. (Lisa R.), Yao, J. (Jie), Yousri, N. A. (Noha A.), Zhao, W. (Wei), Adeyemo, A. A. (Adebowale A.), Afaq, S. (Saima), Alberto Aguilar-Salinas, C. (Carlos), Akiyama, M. (Masato), Albert, M. L. (Matthew L.), Allison, M. A. (Matthew A.), Alver, M. (Maris), Aung, T. (Tin), Azizi, F. (Fereidoun), Bentley, A. R. (Amy R.), Boeing, H. (Heiner), Boerwinkle, E. (Eric), Borja, J. B. (Judith B.), de Borst, G. J. (Gert J.), Bottinger, E. P. (Erwin P.), Broer, L. (Linda), Campbell, H. (Harry), Chanock, S. (Stephen), Chee, M.-L. (Miao-Li), Chen, G. (Guanjie), Chen, Y. I. (Yii-Der I.), Chen, Z. (Zhengming), Chiu, Y.-F. (Yen-Feng), Cocca, M. (Massimiliano), Collins, F. S. (Francis S.), Concas, M. P. (Maria Pina), Corley, J. (Janie), Cugliari, G. (Giovanni), Van Dam, R. M. (Rob M.), Damulina, A. (Anna), Daneshpour, M. S. (Maryam S.), Day, F. R. (Felix R.), Delgado, G. E. (Graciela E.), Dhana, K. (Klodian), Doney, A. S. (Alexander S. F.), Doerr, M. (Marcus), Doumatey, A. P. (Ayo P.), Dzimiri, N. (Nduna), Ebenesersdottir, S. S. (S. Sunna), Elliott, J. (Joshua), Elliott, P. (Paul), Ewert, R. (Ralf), Felix, J. F. (Janine F.), Fischer, K. (Krista), Freedman, B. I. (Barry I.), Girotto, G. (Giorgia), Goel, A. (Anuj), Gogele, M. (Martin), Goodarzi, M. O. (Mark O.), Graff, M. (Mariaelisa), Granot-Hershkovitz, E. (Einat), Grodstein, F. (Francine), Guarrera, S. (Simonetta), Gudbjartsson, D. F. (Daniel F.), Guity, K. (Kamran), Gunnarsson, B. (Bjarni), Guo, Y. (Yu), Hagenaars, S. P. (Saskia P.), Haiman, C. A. (Christopher A.), Halevy, A. (Avner), Harris, T. B. (Tamara B.), Hedayati, M. (Mehdi), van Heel, D. A. (David A.), Hirata, M. (Makoto), Hofer, I. (Imo), Hsiung, C. A. (Chao Agnes), Huang, J. (Jinyan), Hung, Y.-J. (Yi-Jen), Ikram, M. A. (M. Arfan), Jagadeesan, A. (Anuradha), Jousilahti, P. (Pekka), Kamatani, Y. (Yoichiro), Kanai, M. (Masahiro), Kerrison, N. D. (Nicola D.), Kessler, T. (Thorsten), Khaw, K.-T. (Kay-Tee), Khor, C. C. (Chiea Chuen), de Kleijn, D. P. (Dominique P. V.), Koh, W.-P. (Woon-Puay), Kolcic, I. (Ivana), Kraft, P. (Peter), Kramer, B. K. (Bernhard K.), Kutalik, Z. (Zoltan), Kuusisto, J. (Johanna), Langenberg, C. (Claudia), Launer, L. J. (Lenore J.), Lawlor, D. A. (Deborah A.), Lee, I.-T. (I-Te), Lee, W.-J. (Wen-Jane), Lerch, M. M. (Markus M.), Li, L. (Liming), Liu, J. (Jianjun), Loh, M. (Marie), London, S. J. (Stephanie J.), Loomis, S. (Stephanie), Lu, Y. (Yingchang), Luan, J. (Jian'an), Magi, R. (Reedik), Manichaikul, A. W. (Ani W.), Manunta, P. (Paolo), Masson, G. (Gisli), Matoba, N. (Nana), Mei, X. W. (Xue W.), Meisinger, C. (Christa), Meitinger, T. (Thomas), Mezzavilla, M. (Massimo), Milani, L. (Lili), Millwood, I. Y. (Iona Y.), Momozawa, Y. (Yukihide), Moore, A. (Amy), Morange, P.-E. (Pierre-Emmanuel), Moreno-Macias, H. (Hortensia), Mori, T. A. (Trevor A.), Morrison, A. C. (Alanna C.), Muka, T. (Taulant), Murakami, Y. (Yoshinori), Murray, A. D. (Alison D.), de Mutsert, R. (Renee), Mychaleckyj, J. C. (Josyf C.), Nalls, M. A. (Mike A.), Nauck, M. (Matthias), Neville, M. J. (Matt J.), Nolte, I. M. (Ilja M.), Ong, K. K. (Ken K.), Orozco, L. (Lorena), Padmanabhan, S. (Sandosh), Palsson, G. (Gunnar), Pankow, J. S. (James S.), Pattaro, C. (Cristian), Pattie, A. (Alison), Polasek, O. (Ozren), Poulter, N. (Neil), Pramstaller, P. P. (Peter P.), Quintana-Murci, L. (Lluis), Raikkonen, K. (Katri), Ralhan, S. (Sarju), Rao, D. C. (Dabeeru C.), van Rheenen, W. (Wouter), Rich, S. S. (Stephen S.), Ridker, P. M. (Paul M.), Rietveld, C. A. (Cornelius A.), Robino, A. (Antonietta), van Rooij, F. J. (Frank J. A.), Ruggiero, D. (Daniela), Saba, Y. (Yasaman), Sabanayagam, C. (Charumathi), Sabater-Lleal, M. (Maria), Felicita Sala, C. (Cinzia), Salomaa, V. (Veikko), Sandow, K. (Kevin), Schmidt, H. (Helena), Scott, L. J. (Laura J.), Scott, W. R. (William R.), Sedaghati-Khayat, B. (Bahareh), Sennblad, B. (Bengt), van Setten, J. (Jessica), Sever, P. J. (Peter J.), Sheu, W. H. (Wayne H-H), Shi, Y. (Yuan), Shrestha, S. (Smeeta), Shukla, S. R. (Sharvari Rahul), Sigurdsson, J. K. (Jon K.), Sikka, T. T. (Timo Tonis), Singh, J. R. (Jai Rup), Smith, B. H. (Blair H.), Stancakova, A. (Alena), Stanton, A. (Alice), Starr, J. M. (John M.), Stefansdottir, L. (Lilja), Straker, L. (Leon), Sulem, P. (Patrick), Sveinbjornsson, G. (Gardar), Swertz, M. A. (Morris A.), Taylor, A. M. (Adele M.), Taylor, K. D. (Kent D.), Terzikhan, N. (Natalie), Tham, Y.-C. (Yih-Chung), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Tillander, A. (Annika), Tracy, R. P. (Russell P.), Tusie-Luna, T. (Teresa), Tzoulaki, I. (Ioanna), Vaccargiu, S. (Simona), Vangipurapu, J. (Jagadish), Veldink, J. H. (Jan H.), Vitart, V. (Veronique), Volker, U. (Uwe), Vuoksimaa, E. (Eero), Wakil, S. M. (Salma M.), Waldenberger, M. (Melanie), Wander, G. S. (Gurpreet S.), Wang, Y. X. (Ya Xing), Wareham, N. J. (Nicholas J.), Wild, S. (Sarah), Yajnik, C. S. (Chittaranjan S.), Yuan, J.-M. (Jian-Min), Zeng, L. (Lingyao), Zhang, L. (Liang), Zhou, J. (Jie), Amin, N. (Najaf), Asselbergs, F. W. (Folkert W.), Bakker, S. J. (Stephan J. L.), Becker, D. M. (Diane M.), Lehne, B. (Benjamin), Bennett, D. A. (David A.), van den Berg, L. H. (Leonard H.), Berndt, S. I. (Sonja I.), Bharadwaj, D. (Dwaipayan), Bielak, L. F. (Lawrence F.), Bochud, M. (Murielle), Boehnke, M. (Mike), Bouchard, C. (Claude), Bradfield, J. P. (Jonathan P.), Brody, J. A. (Jennifer A.), Campbell, A. (Archie), Carmi, S. (Shai), Caulfield, M. J. (Mark J.), Cesarini, D. (David), Chambers, J. C. (John C.), Chandak, G. R. (Giriraj Ratan), Cheng, C.-Y. (Ching-Yu), Ciullo, M. (Marina), Cornelis, M. (Marilyn), Cusi, D. (Daniele), Smith, G. D. (George Davey), Deary, I. J. (Ian J.), Dorajoo, R. (Rajkumar), van Duijn, C. M. (Cornelia M.), Ellinghaus, D. (David), Erdmann, J. (Jeanette), Eriksson, J. G. (Johan G.), Evangelou, E. (Evangelos), Evans, M. K. (Michele K.), Faul, J. D. (Jessica D.), Feenstra, B. (Bjarke), Feitosa, M. (Mary), Foisy, S. (Sylvain), Franke, A. (Andre), Friedlander, Y. (Yechiel), Gasparini, P. (Paolo), Gieger, C. (Christian), Gonzalez, C. (Clicerio), Goyette, P. (Philippe), Grant, S. F. (Struan F. A.), Griffiths, L. R. (Lyn R.), Groop, L. (Leif), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hakonarson, H. (Hakon), Hamsten, A. (Anders), van der Harst, P. (Pim), Heng, C.-K. (Chew-Kiat), Hicks, A. A. (Andrew A.), Hochner, H. (Hagit), Huikuri, H. (Heikki), Hunt, S. C. (Steven C.), Jaddoe, V. W. (Vincent W. V.), De Jager, P. L. (Philip L.), Johannesson, M. (Magnus), Johansson, A. (Asa), Jonas, J. B. (Jost B.), Jukema, J. W. (J. Wouter), Junttila, J. (Juhani), Kaprio, J. (Jaakko), Kardia, S. L. (Sharon L. R.), Karpe, F. (Fredrik), Kumari, M. (Meena), Laakso, M. (Markku), van der Laan, S. W. (Sander W.), Lahti, J. (Jari), Laudes, M. (Matthias), Lea, R. A. (Rodney A.), Lieb, W. (Wolfgang), Lumley, T. (Thomas), Martin, N. G. (Nicholas G.), Marz, W. (Winfried), Matullo, G. (Giuseppe), McCarthy, M. I. (Mark I.), Medland, S. E. (Sarah E.), Merriman, T. R. (Tony R.), Metspalu, A. (Andres), Meyer, B. F. (Brian F.), Mohlke, K. L. (Karen L.), Montgomery, G. W. (Grant W.), Mook-Kanamori, D. (Dennis), Munroe, P. B. (Patricia B.), North, K. E. (Kari E.), Nyholt, D. R. (Dale R.), O'connell, J. R. (Jeffery R.), Ober, C. (Carole), Oldehinkel, A. J. (Albertine J.), Palmas, W. (Walter), Palmer, C. (Colin), Pasterkamp, G. G. (Gerard G.), Patin, E. (Etienne), Pennell, C. E. (Craig E.), Perusse, L. (Louis), Peyser, P. A. (Patricia A.), Pirastu, M. (Mario), Polderman, T. J. (Tinca J. C.), Porteous, D. J. (David J.), Posthuma, D. (Danielle), Psaty, B. M. (Bruce M.), Rioux, J. D. (John D.), Rivadeneira, F. (Fernando), Rotimi, C. (Charles), Rotter, J. I. (Jerome I.), Rudan, I. (Igor), Den Ruijter, H. M. (Hester M.), Sanghera, D. K. (Dharambir K.), Sattar, N. (Naveed), Schmidt, R. (Reinhold), Schulze, M. B. (Matthias B.), Schunkert, H. (Heribert), Scott, R. A. (Robert A.), Shuldiner, A. R. (Alan R.), Sim, X. (Xueling), Small, N. (Neil), Smith, J. A. (Jennifer A.), Sotoodehnia, N. (Nona), Tai, E.-S. (E-Shyong), Teumer, A. (Alexander), Timpson, N. J. (Nicholas J.), Toniolo, D. (Daniela), Tregouet, D.-A. (David-Alexandre), Tuomi, T. (Tiinamaija), Vollenweider, P. (Peter), Wang, C. A. (Carol A.), Weir, D. R. (David R.), Whitfield, J. B. (John B.), Wijmenga, C. (Cisca), Wong, T.-Y. (Tien-Yin), Wright, J. (John), Yang, J. (Jingyun), Yu, L. (Lei), Zemel, B. S. (Babette S.), Zonderman, A. B. (Alan B.), Perola, M. (Markus), Magnusson, P. K. (Patrik K. E.), Uitterlinden, A. G. (Andre G.), Kooner, J. S. (Jaspal S.), Chasman, D. I. (Daniel I.), Loos, R. J. (Ruth J. F.), Franceschini, N. (Nora), Franke, L. (Lude), Haley, C. S. (Chris S.), Hayward, C. (Caroline), Walters, R. G. (Robin G.), Perry, J. R. (John R. B.), Esko, T. (Tonu), Helgason, A. (Agnar), Stefansson, K. (Kari), Joshi, P. K. (Peter K.), Kubo, M. (Michiaki), Wilson, J. F. (James F.), Clark, D. W. (David W.), Okada, Y. (Yukinori), Moore, K. H. (Kristjan H. S.), Mason, D. (Dan), Pirastu, N. (Nicola), Gandin, I. (Ilaria), Mattsson, H. (Hannele), Barnes, C. L. (Catriona L. K.), Lin, K. (Kuang), Zhao, J. H. (Jing Hua), Deelen, P. (Patrick), Rohde, R. (Rebecca), Schurmann, C. (Claudia), Guo, X. (Xiuqing), Giulianini, F. (Franco), Zhang, W. (Weihua), Medina-Gomez, C. (Carolina), Karlsson, R. (Robert), Bao, Y. (Yanchun), Bartz, T. M. (Traci M.), Baumbach, C. (Clemens), Biino, G. (Ginevra), Bixley, M. J. (Matthew J.), Brumat, M. (Marco), Chai, J.-F. (Jin-Fang), Corre, T. (Tanguy), Cousminer, D. L. (Diana L.), Dekker, A. M. (Annelot M.), Eccles, D. A. (David A.), Van Eijk, K. R. (Kristel R.), Fuchsberger, C. (Christian), Gao, H. (He), Germain, M. (Marine), Gordon, S. D. (Scott D.), de Haan, H. G. (Hugoline G.), Harris, S. E. (Sarah E.), Hofer, E. (Edith), Huerta-Chagoya, A. (Alicia), Igartua, C. (Catherine), Jansen, I. E. (Iris E.), Jia, Y. (Yucheng), Kacprowski, T. (Tim), Karlsson, T. (Torgny), Kleber, M. E. (Marcus E.), Li, S. A. (Shengchao Alfred), Li-Gao, R. (Ruifang), Mahajan, A. (Anubha), Matsuda, K. (Koichi), Meidtner, K. (Karina), Meng, W. (Weihua), Montasser, M. E. (May E.), van der Most, P. J. (Peter J.), Munz, M. (Matthias), Nutile, T. (Teresa), Palviainen, T. (Teemu), Prasad, G. (Gauri), Prasad, R. B. (Rashmi B.), Priyanka, T. D. (Tallapragada Divya Sri), Rizzi, F. (Federica), Salvi, E. (Erika), Sapkota, B. R. (Bishwa R.), Shriner, D. (Daniel), Skotte, L. (Line), Smart, M. C. (Melissa C.), Smith, A. V. (Albert Vernon), van der Spek, A. (Ashley), Spracklen, C. N. (Cassandra N.), Strawbridge, R. J. (Rona J.), Tajuddin, S. M. (Salman M.), Trompet, S. (Stella), Turman, C. (Constance), Verweij, N. (Niek), Viberti, C. (Clara), Wang, L. (Lihua), Warren, H. R. (Helen R.), Wootton, R. E. (Robyn E.), Yanek, L. R. (Lisa R.), Yao, J. (Jie), Yousri, N. A. (Noha A.), Zhao, W. (Wei), Adeyemo, A. A. (Adebowale A.), Afaq, S. (Saima), Alberto Aguilar-Salinas, C. (Carlos), Akiyama, M. (Masato), Albert, M. L. (Matthew L.), Allison, M. A. (Matthew A.), Alver, M. (Maris), Aung, T. (Tin), Azizi, F. (Fereidoun), Bentley, A. R. (Amy R.), Boeing, H. (Heiner), Boerwinkle, E. (Eric), Borja, J. B. (Judith B.), de Borst, G. J. (Gert J.), Bottinger, E. P. (Erwin P.), Broer, L. (Linda), Campbell, H. (Harry), Chanock, S. (Stephen), Chee, M.-L. (Miao-Li), Chen, G. (Guanjie), Chen, Y. I. (Yii-Der I.), Chen, Z. (Zhengming), Chiu, Y.-F. (Yen-Feng), Cocca, M. (Massimiliano), Collins, F. S. (Francis S.), Concas, M. P. (Maria Pina), Corley, J. (Janie), Cugliari, G. (Giovanni), Van Dam, R. M. (Rob M.), Damulina, A. (Anna), Daneshpour, M. S. (Maryam S.), Day, F. R. (Felix R.), Delgado, G. E. (Graciela E.), Dhana, K. (Klodian), Doney, A. S. (Alexander S. F.), Doerr, M. (Marcus), Doumatey, A. P. (Ayo P.), Dzimiri, N. (Nduna), Ebenesersdottir, S. S. (S. Sunna), Elliott, J. (Joshua), Elliott, P. (Paul), Ewert, R. (Ralf), Felix, J. F. (Janine F.), Fischer, K. (Krista), Freedman, B. I. (Barry I.), Girotto, G. (Giorgia), Goel, A. (Anuj), Gogele, M. (Martin), Goodarzi, M. O. (Mark O.), Graff, M. (Mariaelisa), Granot-Hershkovitz, E. (Einat), Grodstein, F. (Francine), Guarrera, S. (Simonetta), Gudbjartsson, D. F. (Daniel F.), Guity, K. (Kamran), Gunnarsson, B. (Bjarni), Guo, Y. (Yu), Hagenaars, S. P. (Saskia P.), Haiman, C. A. (Christopher A.), Halevy, A. (Avner), Harris, T. B. (Tamara B.), Hedayati, M. (Mehdi), van Heel, D. A. (David A.), Hirata, M. (Makoto), Hofer, I. (Imo), Hsiung, C. A. (Chao Agnes), Huang, J. (Jinyan), Hung, Y.-J. (Yi-Jen), Ikram, M. A. (M. Arfan), Jagadeesan, A. (Anuradha), Jousilahti, P. (Pekka), Kamatani, Y. (Yoichiro), Kanai, M. (Masahiro), Kerrison, N. D. (Nicola D.), Kessler, T. (Thorsten), Khaw, K.-T. (Kay-Tee), Khor, C. C. (Chiea Chuen), de Kleijn, D. P. (Dominique P. V.), Koh, W.-P. (Woon-Puay), Kolcic, I. (Ivana), Kraft, P. (Peter), Kramer, B. K. (Bernhard K.), Kutalik, Z. (Zoltan), Kuusisto, J. (Johanna), Langenberg, C. (Claudia), Launer, L. J. (Lenore J.), Lawlor, D. A. (Deborah A.), Lee, I.-T. (I-Te), Lee, W.-J. (Wen-Jane), Lerch, M. M. (Markus M.), Li, L. (Liming), Liu, J. (Jianjun), Loh, M. (Marie), London, S. J. (Stephanie J.), Loomis, S. (Stephanie), Lu, Y. (Yingchang), Luan, J. (Jian'an), Magi, R. (Reedik), Manichaikul, A. W. (Ani W.), Manunta, P. (Paolo), Masson, G. (Gisli), Matoba, N. (Nana), Mei, X. W. (Xue W.), Meisinger, C. (Christa), Meitinger, T. (Thomas), Mezzavilla, M. (Massimo), Milani, L. (Lili), Millwood, I. Y. (Iona Y.), Momozawa, Y. (Yukihide), Moore, A. (Amy), Morange, P.-E. (Pierre-Emmanuel), Moreno-Macias, H. (Hortensia), Mori, T. A. (Trevor A.), Morrison, A. C. (Alanna C.), Muka, T. (Taulant), Murakami, Y. (Yoshinori), Murray, A. D. (Alison D.), de Mutsert, R. (Renee), Mychaleckyj, J. C. (Josyf C.), Nalls, M. A. (Mike A.), Nauck, M. (Matthias), Neville, M. J. (Matt J.), Nolte, I. M. (Ilja M.), Ong, K. K. (Ken K.), Orozco, L. (Lorena), Padmanabhan, S. (Sandosh), Palsson, G. (Gunnar), Pankow, J. S. (James S.), Pattaro, C. (Cristian), Pattie, A. (Alison), Polasek, O. (Ozren), Poulter, N. (Neil), Pramstaller, P. P. (Peter P.), Quintana-Murci, L. (Lluis), Raikkonen, K. (Katri), Ralhan, S. (Sarju), Rao, D. C. (Dabeeru C.), van Rheenen, W. (Wouter), Rich, S. S. (Stephen S.), Ridker, P. M. (Paul M.), Rietveld, C. A. (Cornelius A.), Robino, A. (Antonietta), van Rooij, F. J. (Frank J. A.), Ruggiero, D. (Daniela), Saba, Y. (Yasaman), Sabanayagam, C. (Charumathi), Sabater-Lleal, M. (Maria), Felicita Sala, C. (Cinzia), Salomaa, V. (Veikko), Sandow, K. (Kevin), Schmidt, H. (Helena), Scott, L. J. (Laura J.), Scott, W. R. (William R.), Sedaghati-Khayat, B. (Bahareh), Sennblad, B. (Bengt), van Setten, J. (Jessica), Sever, P. J. (Peter J.), Sheu, W. H. (Wayne H-H), Shi, Y. (Yuan), Shrestha, S. (Smeeta), Shukla, S. R. (Sharvari Rahul), Sigurdsson, J. K. (Jon K.), Sikka, T. T. (Timo Tonis), Singh, J. R. (Jai Rup), Smith, B. H. (Blair H.), Stancakova, A. (Alena), Stanton, A. (Alice), Starr, J. M. (John M.), Stefansdottir, L. (Lilja), Straker, L. (Leon), Sulem, P. (Patrick), Sveinbjornsson, G. (Gardar), Swertz, M. A. (Morris A.), Taylor, A. M. (Adele M.), Taylor, K. D. (Kent D.), Terzikhan, N. (Natalie), Tham, Y.-C. (Yih-Chung), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Tillander, A. (Annika), Tracy, R. P. (Russell P.), Tusie-Luna, T. (Teresa), Tzoulaki, I. (Ioanna), Vaccargiu, S. (Simona), Vangipurapu, J. (Jagadish), Veldink, J. H. (Jan H.), Vitart, V. (Veronique), Volker, U. (Uwe), Vuoksimaa, E. (Eero), Wakil, S. M. (Salma M.), Waldenberger, M. (Melanie), Wander, G. S. (Gurpreet S.), Wang, Y. X. (Ya Xing), Wareham, N. J. (Nicholas J.), Wild, S. (Sarah), Yajnik, C. S. (Chittaranjan S.), Yuan, J.-M. (Jian-Min), Zeng, L. (Lingyao), Zhang, L. (Liang), Zhou, J. (Jie), Amin, N. (Najaf), Asselbergs, F. W. (Folkert W.), Bakker, S. J. (Stephan J. L.), Becker, D. M. (Diane M.), Lehne, B. (Benjamin), Bennett, D. A. (David A.), van den Berg, L. H. (Leonard H.), Berndt, S. I. (Sonja I.), Bharadwaj, D. (Dwaipayan), Bielak, L. F. (Lawrence F.), Bochud, M. (Murielle), Boehnke, M. (Mike), Bouchard, C. (Claude), Bradfield, J. P. (Jonathan P.), Brody, J. A. (Jennifer A.), Campbell, A. (Archie), Carmi, S. (Shai), Caulfield, M. J. (Mark J.), Cesarini, D. (David), Chambers, J. C. (John C.), Chandak, G. R. (Giriraj Ratan), Cheng, C.-Y. (Ching-Yu), Ciullo, M. (Marina), Cornelis, M. (Marilyn), Cusi, D. (Daniele), Smith, G. D. (George Davey), Deary, I. J. (Ian J.), Dorajoo, R. (Rajkumar), van Duijn, C. M. (Cornelia M.), Ellinghaus, D. (David), Erdmann, J. (Jeanette), Eriksson, J. G. (Johan G.), Evangelou, E. (Evangelos), Evans, M. K. (Michele K.), Faul, J. D. (Jessica D.), Feenstra, B. (Bjarke), Feitosa, M. (Mary), Foisy, S. (Sylvain), Franke, A. (Andre), Friedlander, Y. (Yechiel), Gasparini, P. (Paolo), Gieger, C. (Christian), Gonzalez, C. (Clicerio), Goyette, P. (Philippe), Grant, S. F. (Struan F. A.), Griffiths, L. R. (Lyn R.), Groop, L. (Leif), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hakonarson, H. (Hakon), Hamsten, A. (Anders), van der Harst, P. (Pim), Heng, C.-K. (Chew-Kiat), Hicks, A. A. (Andrew A.), Hochner, H. (Hagit), Huikuri, H. (Heikki), Hunt, S. C. (Steven C.), Jaddoe, V. W. (Vincent W. V.), De Jager, P. L. (Philip L.), Johannesson, M. (Magnus), Johansson, A. (Asa), Jonas, J. B. (Jost B.), Jukema, J. W. (J. Wouter), Junttila, J. (Juhani), Kaprio, J. (Jaakko), Kardia, S. L. (Sharon L. R.), Karpe, F. (Fredrik), Kumari, M. (Meena), Laakso, M. (Markku), van der Laan, S. W. (Sander W.), Lahti, J. (Jari), Laudes, M. (Matthias), Lea, R. A. (Rodney A.), Lieb, W. (Wolfgang), Lumley, T. (Thomas), Martin, N. G. (Nicholas G.), Marz, W. (Winfried), Matullo, G. (Giuseppe), McCarthy, M. I. (Mark I.), Medland, S. E. (Sarah E.), Merriman, T. R. (Tony R.), Metspalu, A. (Andres), Meyer, B. F. (Brian F.), Mohlke, K. L. (Karen L.), Montgomery, G. W. (Grant W.), Mook-Kanamori, D. (Dennis), Munroe, P. B. (Patricia B.), North, K. E. (Kari E.), Nyholt, D. R. (Dale R.), O'connell, J. R. (Jeffery R.), Ober, C. (Carole), Oldehinkel, A. J. (Albertine J.), Palmas, W. (Walter), Palmer, C. (Colin), Pasterkamp, G. G. (Gerard G.), Patin, E. (Etienne), Pennell, C. E. (Craig E.), Perusse, L. (Louis), Peyser, P. A. (Patricia A.), Pirastu, M. (Mario), Polderman, T. J. (Tinca J. C.), Porteous, D. J. (David J.), Posthuma, D. (Danielle), Psaty, B. M. (Bruce M.), Rioux, J. D. (John D.), Rivadeneira, F. (Fernando), Rotimi, C. (Charles), Rotter, J. I. (Jerome I.), Rudan, I. (Igor), Den Ruijter, H. M. (Hester M.), Sanghera, D. K. (Dharambir K.), Sattar, N. (Naveed), Schmidt, R. (Reinhold), Schulze, M. B. (Matthias B.), Schunkert, H. (Heribert), Scott, R. A. (Robert A.), Shuldiner, A. R. (Alan R.), Sim, X. (Xueling), Small, N. (Neil), Smith, J. A. (Jennifer A.), Sotoodehnia, N. (Nona), Tai, E.-S. (E-Shyong), Teumer, A. (Alexander), Timpson, N. J. (Nicholas J.), Toniolo, D. (Daniela), Tregouet, D.-A. (David-Alexandre), Tuomi, T. (Tiinamaija), Vollenweider, P. (Peter), Wang, C. A. (Carol A.), Weir, D. R. (David R.), Whitfield, J. B. (John B.), Wijmenga, C. (Cisca), Wong, T.-Y. (Tien-Yin), Wright, J. (John), Yang, J. (Jingyun), Yu, L. (Lei), Zemel, B. S. (Babette S.), Zonderman, A. B. (Alan B.), Perola, M. (Markus), Magnusson, P. K. (Patrik K. E.), Uitterlinden, A. G. (Andre G.), Kooner, J. S. (Jaspal S.), Chasman, D. I. (Daniel I.), Loos, R. J. (Ruth J. F.), Franceschini, N. (Nora), Franke, L. (Lude), Haley, C. S. (Chris S.), Hayward, C. (Caroline), Walters, R. G. (Robin G.), Perry, J. R. (John R. B.), Esko, T. (Tonu), Helgason, A. (Agnar), Stefansson, K. (Kari), Joshi, P. K. (Peter K.), Kubo, M. (Michiaki), and Wilson, J. F. (James F.)
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
Published: 2019

24. Correction: The complex genetics of gait speed: Genome-wide metaanalysis approach [Aging, (Albany NY), 9, 1, (2017), (209-246)]doi 10.18632/aging.101151

Author: Ben-Avraham, D. (Dan), Karasik, D. (David), Verghese, J. (Joe), Lunetta, K.L. (Kathryn), Smith, J.A. (Jennifer A), Eicher, J.D. (John D.), Vered, R. (Rotem), Deelen, J. (Joris), Arnold, A.M. (Alice), Buchman, A.S. (Aron), Tanaka, T. (Toshiko), Faul, J.D. (Jessica D.), Nethander, M. (Maria), Fornage, M. (Myriam), Adams, H.H.H. (Hieab), Matteini, A.M. (Amy M.), Callisaya, M. (Michele), Smith, A.V. (Albert Vernon), Yu, L. (Lei), Jager, P.L. (Philip) de, Evans, D.A. (Denis), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Pattie, A. (Alison), Corley, J. (Janie), Launer, L.J. (Lenore), Knopman, D.S. (Davis S.), Parimi, N. (Neeta), Turner, S.T. (Stephen T.), Bandinelli, S. (Stefania), Beekman, M. (Marian), Gutman, D. (Danielle), Sharvit, L. (Lital), Mooijaart, S.P. (Simon), Liewald, D.C.M. (David), Houwing-Duistermaat, J.J. (Jeanine), Ohlsson, C. (Claes), Moed, H. (Heleen), Verlinden, V.J.A. (Vincent), Mellström, D. (Dan), Geest, J.N. (Jos) van der, Karlsson, M. (Magnus), Hernandez, D.G. (Dena), McWhirter, R. (Rebekah), Liu, Y. (YongMei), Thomson, R. (Russell), Tranah, G.J. (Gregory), Uitterlinden, A.G. (André), Weir, D.R. (David R.), Zhao, W. (Wei), Starr, J.M. (John), Johnson, A.D. (Andrew), Ikram, M.A. (Arfan), Bennett, D.A. (David), Cummings, S., Deary, I.J. (Ian), Harris, T.B. (Tamara), Kardia, S.L.R. (Sharon L.R.), Mosley, T.H. (Thomas H.), Srikanth, V. (Velandai), Windham, B.G. (Gwen), Newman, A.B. (Anne B.), Walston, J. (Jeremy), Davies, G. (Gail), Evans, D.S. (Daniel), Slagboom, P.E. (Eline), Ferrucci, L. (Luigi), Kiel, D.P. (Douglas P.), Murabito, J. (Joanne), Atzmon, G. (Gil), Ben-Avraham, D. (Dan), Karasik, D. (David), Verghese, J. (Joe), Lunetta, K.L. (Kathryn), Smith, J.A. (Jennifer A), Eicher, J.D. (John D.), Vered, R. (Rotem), Deelen, J. (Joris), Arnold, A.M. (Alice), Buchman, A.S. (Aron), Tanaka, T. (Toshiko), Faul, J.D. (Jessica D.), Nethander, M. (Maria), Fornage, M. (Myriam), Adams, H.H.H. (Hieab), Matteini, A.M. (Amy M.), Callisaya, M. (Michele), Smith, A.V. (Albert Vernon), Yu, L. (Lei), Jager, P.L. (Philip) de, Evans, D.A. (Denis), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Pattie, A. (Alison), Corley, J. (Janie), Launer, L.J. (Lenore), Knopman, D.S. (Davis S.), Parimi, N. (Neeta), Turner, S.T. (Stephen T.), Bandinelli, S. (Stefania), Beekman, M. (Marian), Gutman, D. (Danielle), Sharvit, L. (Lital), Mooijaart, S.P. (Simon), Liewald, D.C.M. (David), Houwing-Duistermaat, J.J. (Jeanine), Ohlsson, C. (Claes), Moed, H. (Heleen), Verlinden, V.J.A. (Vincent), Mellström, D. (Dan), Geest, J.N. (Jos) van der, Karlsson, M. (Magnus), Hernandez, D.G. (Dena), McWhirter, R. (Rebekah), Liu, Y. (YongMei), Thomson, R. (Russell), Tranah, G.J. (Gregory), Uitterlinden, A.G. (André), Weir, D.R. (David R.), Zhao, W. (Wei), Starr, J.M. (John), Johnson, A.D. (Andrew), Ikram, M.A. (Arfan), Bennett, D.A. (David), Cummings, S., Deary, I.J. (Ian), Harris, T.B. (Tamara), Kardia, S.L.R. (Sharon L.R.), Mosley, T.H. (Thomas H.), Srikanth, V. (Velandai), Windham, B.G. (Gwen), Newman, A.B. (Anne B.), Walston, J. (Jeremy), Davies, G. (Gail), Evans, D.S. (Daniel), Slagboom, P.E. (Eline), Ferrucci, L. (Luigi), Kiel, D.P. (Douglas P.), Murabito, J. (Joanne), and Atzmon, G. (Gil)
Abstract: Applying HaploReg v4.1 analysis to the 536 variants resulted in 9 categories (Supplementary Table 8): miscRNA (1 variant); snoRNA (2 variants); microRNA (4 variants); snRNA (9 variants); pseudogenes (14 variants); sequencing in progress (43 variants); LINC RNA (86 variants); and 372 variants within protein coding genes. In addition, some variants annotate to the same gene resulting in a total of 139 genes (protein-coding or non-coding). Of those genes, 6 are exceptionally long, containing over a million base-pairs, the longest of which is PTPRT coded by 1117219bp. The shortest genes are the ones coding for micro (MIR3143) or small nuclear (U7) RNAs at 63bp each. There is only partial information regarding the chromatin state of each variant. However, from the information gathered in the analysis we observed 14 transcription start sites and 245 enhancers (Supplementary Table 8).
Published: 2017
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25. GWAS for executive function and processing speed suggests involvement of the CADM2 gene

Author: Ibrahim-Verbaas, C.A. (Carla), Bressler, J. (Jan), Debette, S. (Stéphanie), Schuur, M. (Maaike), Smith, A.V. (Albert), Bis, J.C. (Joshua), Davies, G. (Gail), Trompet, S. (Stella), Smith, J.A., Björnsson, A. (Asgeir), Chibnik, L.B. (Lori), Liu, Y., Vitart, V. (Veronique), Kirin, M. (Mirna), Petrovic, K. (Katja), Polasek, O. (Ozren), Zgaga, L. (Lina), Fawns-Ritchie, C., Hoffmann, P. (Per), Karjalainen, J. (Juha), Lahti, J., Llewellyn, D.J., Schmidt, C.O. (Carsten O.), Mather, R., Chouraki, V. (Vincent), Sun, Q., Resnick, S.M. (Susan), Rose, L.M. (Lynda), Oldmeadow, C. (Christopher), Stewart, M., Smith, B.H., Gudnason, V. (Vilmundur), Yang, Q. (Qiong), Mirza, S.S. (Saira), Jukema, J.W., DeJager, P.L. (Philip L.), Harris, T.B. (Tamara), Liewald, D.C. (David C.), Amin, N. (Najaf), Coker, L.H. (Laura), Stegle, O. (Oliver), Lopez, O.L., Schmidt, R., Teumer, A. (Alexander), Ford, I., Karbalai, N. (Nazanin), Becker, J.T. (James), Jonsdottir, M.K. (Maria K.), Au, R. (Rhoda), Fehrmann, R.S.N. (Rudolf), Herms, S. (Stefan), Nalls, M.A. (Michael), Zhao, W., Turner, S.T. (Stephen), Yaffe, K., Lohman, K. (Kurt), Swieten, J.C. (John) van, Kardia, S.L. (Sharon L.r), Knopman, D.S. (David), Meeks, W.M. (William), Heiss, G. (Gerardo), Holliday, E.G. (Elizabeth), Schofield, P.W., Tanaka, T. (Toshiko), Stott, D.J. (David J.), Wang, J. (Jing), Ridker, P.M. (Paul), Gow, A.J., Pattie, A. (Alison), Starr, J.M. (John), Hocking, L.J., Armstrong, N.J. (Nicola), McLachlan, S. (Stela), Shulman, J.M., Pilling, L.C. (Luke), Eiriksdottir, G. (Gudny), Scott, R. (Rodney), Kochan, N.A. (Nicole A.), Palotie, A. (Aarno), Hsieh, Y.-C. (Yi-Chen), Eriksson, J.G. (Johan G.), Penman, A.D. (Alan), Gottesman, R.F. (Rebecca), Oostra, B.A. (Ben), Yu, L. (Lei), DeStefano, A.L. (Anita), Beiser, A. (Alexa), Garcia, M., Rotter, J.I. (Jerome I.), Nöthen, M.M. (Markus M.), Hofman, A. (Albert), Slagboom, P.E. (Eline), Westendorp, R.G.J., Buckley, B.M. (Brendan M.), Wolf, P.A., Uitterlinden, A.G. (André), Psaty, B.M. (Bruce), Grabe, H.J. (Hans Jörgen), Bandinelli, S. (Stefania), Chasman, D.I. (Daniel), Grodstein, F. (Francine), Räikkönen, K. (Katri), Lambert, J.-C. (J.), Porteous, D.J. (David J.), Price, J.F. (Jackie F.), Sachdev, P.S. (Perminder), Ferrucci, L. (Luigi), Attia, J. (John), Rudan, I. (Igor), Hayward, C., Wright, A.F., Wilson, J.F. (James F), Cichon, S., Franke, L. (Lude), Schmidt, H., Ding, J. (Jingzhong), Craen, A.J. (Anton) de, Fornage, M. (Myriam), Bennett, D.A. (David), Deary, I.J. (Ian), Ikram, M.A. (Arfan), Launer, L.J. (Lenore), Fitzpatrick, A.L. (Annette), Seshadri, S. (Sudha), Duijn, C.M. (Cornelia) van, Mosley, T.H. (Thomas H.), Ibrahim-Verbaas, C.A. (Carla), Bressler, J. (Jan), Debette, S. (Stéphanie), Schuur, M. (Maaike), Smith, A.V. (Albert), Bis, J.C. (Joshua), Davies, G. (Gail), Trompet, S. (Stella), Smith, J.A., Björnsson, A. (Asgeir), Chibnik, L.B. (Lori), Liu, Y., Vitart, V. (Veronique), Kirin, M. (Mirna), Petrovic, K. (Katja), Polasek, O. (Ozren), Zgaga, L. (Lina), Fawns-Ritchie, C., Hoffmann, P. (Per), Karjalainen, J. (Juha), Lahti, J., Llewellyn, D.J., Schmidt, C.O. (Carsten O.), Mather, R., Chouraki, V. (Vincent), Sun, Q., Resnick, S.M. (Susan), Rose, L.M. (Lynda), Oldmeadow, C. (Christopher), Stewart, M., Smith, B.H., Gudnason, V. (Vilmundur), Yang, Q. (Qiong), Mirza, S.S. (Saira), Jukema, J.W., DeJager, P.L. (Philip L.), Harris, T.B. (Tamara), Liewald, D.C. (David C.), Amin, N. (Najaf), Coker, L.H. (Laura), Stegle, O. (Oliver), Lopez, O.L., Schmidt, R., Teumer, A. (Alexander), Ford, I., Karbalai, N. (Nazanin), Becker, J.T. (James), Jonsdottir, M.K. (Maria K.), Au, R. (Rhoda), Fehrmann, R.S.N. (Rudolf), Herms, S. (Stefan), Nalls, M.A. (Michael), Zhao, W., Turner, S.T. (Stephen), Yaffe, K., Lohman, K. (Kurt), Swieten, J.C. (John) van, Kardia, S.L. (Sharon L.r), Knopman, D.S. (David), Meeks, W.M. (William), Heiss, G. (Gerardo), Holliday, E.G. (Elizabeth), Schofield, P.W., Tanaka, T. (Toshiko), Stott, D.J. (David J.), Wang, J. (Jing), Ridker, P.M. (Paul), Gow, A.J., Pattie, A. (Alison), Starr, J.M. (John), Hocking, L.J., Armstrong, N.J. (Nicola), McLachlan, S. (Stela), Shulman, J.M., Pilling, L.C. (Luke), Eiriksdottir, G. (Gudny), Scott, R. (Rodney), Kochan, N.A. (Nicole A.), Palotie, A. (Aarno), Hsieh, Y.-C. (Yi-Chen), Eriksson, J.G. (Johan G.), Penman, A.D. (Alan), Gottesman, R.F. (Rebecca), Oostra, B.A. (Ben), Yu, L. (Lei), DeStefano, A.L. (Anita), Beiser, A. (Alexa), Garcia, M., Rotter, J.I. (Jerome I.), Nöthen, M.M. (Markus M.), Hofman, A. (Albert), Slagboom, P.E. (Eline), Westendorp, R.G.J., Buckley, B.M. (Brendan M.), Wolf, P.A., Uitterlinden, A.G. (André), Psaty, B.M. (Bruce), Grabe, H.J. (Hans Jörgen), Bandinelli, S. (Stefania), Chasman, D.I. (Daniel), Grodstein, F. (Francine), Räikkönen, K. (Katri), Lambert, J.-C. (J.), Porteous, D.J. (David J.), Price, J.F. (Jackie F.), Sachdev, P.S. (Perminder), Ferrucci, L. (Luigi), Attia, J. (John), Rudan, I. (Igor), Hayward, C., Wright, A.F., Wilson, J.F. (James F), Cichon, S., Franke, L. (Lude), Schmidt, H., Ding, J. (Jingzhong), Craen, A.J. (Anton) de, Fornage, M. (Myriam), Bennett, D.A. (David), Deary, I.J. (Ian), Ikram, M.A. (Arfan), Launer, L.J. (Lenore), Fitzpatrick, A.L. (Annette), Seshadri, S. (Sudha), Duijn, C.M. (Cornelia) van, and Mosley, T.H. (Thomas H.)
Abstract: To identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide association study (GWAS) of executive functioning and information processing speed in non-demented older adults from the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium. Neuropsychological testing was available for 5429-32 070 subjects of European ancestry aged 45 years or older, free of dementia and clinical stroke at the time of cognitive testing from 20 cohorts in the discovery phase. We analyzed performance on the Trail Making Test parts A and B, the Letter Digit Substitution Test (LDST), the Digit Symbol Substitution Task (DSST), semant
Published: 2016
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26. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Author: Winkler, T.W. (Thomas W.), Justice, A.E. (Anne), Graff, M.J. (Maud J.L.), Barata, L. (Llilda), Feitosa, M.F. (Mary Furlan), Chu, S. (Su), Czajkowski, J. (Jacek), Esko, T. (Tõnu), Fall, M. (Magnus), Kilpeläinen, T.O. (Tuomas), Lu, Y. (Yingchang), Mägi, R. (Reedik), Mihailov, E. (Evelin), Pers, T.H. (Tune), Rüeger, S. (Sina), Teumer, A. (Alexander), Ehret, G.B. (Georg), Ferreira, T. (Teresa), Heard-Costa, N.L. (Nancy), Karjalainen, J. (Juha), Lagou, V. (Vasiliki), Mahajan, A. (Anubha), Neinast, M.D. (Michael D.), Prokopenko, I. (Inga), Simino, J. (Jeannette), Teslovich, T.M. (Tanya M.), Jansen, R., Westra, H.J. (Harm-Jan), White, C.C. (Charles), Absher, D. (Devin), Ahluwalia, T.S. (Tarunveer Singh), Ahmad, S. (Shafqat), Albrecht, E. (Eva), Alves, A.C. (Alexessander Couto), Bragg-Gresham, J.L. (Jennifer L.), Craen, A.J. (Anton) de, Bis, J.C. (Joshua), Bonnefond, A. (Amélie), Boucher, G. (Gabrielle), Cadby, G. (Gemma), Cheng, Y.-C. (Yu-Ching), Chiang, C.W. (Charleston W K), Delgado, G., Demirkan, A. (Ayşe), Dueker, N. (Nicole), Eklund, N. (Niina), Eiriksdottir, G. (Gudny), Eriksson, J. (Joel), Feenstra, B. (Bjarke), Fischer, K. (Krista), Frau, F. (Francesca), Galesloot, T.E. (Tessel), Geller, F. (Frank), Goel, A. (Anuj), Gorski, M. (Mathias), Grammer, T.B. (Tanja), Gustafsson, S. (Stefan), Haitjema, S. (Saskia), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Jacobs, K.B. (Kevin), Johansson, A. (Åsa), Kaakinen, M. (Marika), Kleber, M.E. (Marcus), Lahti, J. (Jari), Leach, I.M. (Irene Mateo), Lehne, B. (Benjamin), Liu, Y. (Youfang), Lo, K.S., Lorentzon, M. (Mattias), Luan, J. (Jian'An), Madden, P.A. (Pamela), Mangino, M. (Massimo), McKnight, B. (Barbara), Medina-Gomez, C. (Carolina), Monda, K.L. (Keri), Montasser, M.E. (May E.), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nolte, I.M. (Ilja), Panoutsopoulou, K. (Kalliope), Pascoe, L. (Laura), Paternoster, L. (Lavinia), Rayner, N.W. (Nigel William), Renström, F. (Frida), Rizzi, F. (Federica), Rose, L.M. (Lynda), Ryan, K.A. (Kathy A.), Salo, P. (Perttu), Sanna, S. (Serena), Scharnagl, H. (Hubert), Shi, J. (Jianxin), Smith, A.V. (Albert Vernon), Southam, L. (Lorraine), Stancáková, A. (Alena), Steinthorsdottir, V. (Valgerdur), Strawbridge, R.J. (Rona), Sung, Y.J. (Yun Ju), Tachmazidou, I. (Ioanna), Tanaka, T. (Toshiko), Thorleifsson, G. (Gudmar), Trompet, S. (Stella), Pervjakova, N. (Natalia), Tyrer, J.P. (Jonathan), Vandenput, L. (Liesbeth), Van Der Laan, S.W. (Sander W.), Velde, N. (Nathalie) van der, Setten, J. (Jessica) van, Vliet-Ostaptchouk, J.V. (Jana) van, Verweij, N. (Niek), Vlachopoulou, E. (Efthymia), Waite, L. (Lindsay), Wang, S.R. (Sophie), Wang, Z. (Zhaoming), Wild, S.H. (Sarah), Willenborg, C. (Christina), Wilson, J.F. (James), Wong, A. (Andrew), Yang, J. (Jian), Yengo, L. (Loic), Yerges-Armstrong, L.M. (Laura), Yu, L. (Lei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Andersson, E.A. (Ehm Astrid), Bakker, S.J.L. (Stephan), Baldassarre, D. (Damiano), Banasik, K. (Karina), Barcella, M. (Matteo), Barlassina, C. (Cristina), Bellis, C. (Claire), Benaglio, P. (Paola), Blangero, J. (John), Blüher, M. (Matthias), Bonnet, F. (Fabrice), Bonnycastle, L.L. (Lori), Boyd, H.A. (Heather), Bruinenberg, M. (M.), Buchman, A.S. (Aron S.), Campbell, H. (Harry), Chen, Y.D. (Y.), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Cole, J.W. (John W.), Collins, F.S. (Francis), Geus, E.J.C. (Eco) de, Groot, L.C.P.G.M. (Lisette) de, Dimitriou, M. (Maria), Duan, J. (Jubao), Enroth, S. (Stefan), Eury, E. (Elodie), Farmaki, A.-E. (Aliki-Eleni), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gejman, P.V. (Pablo), Gigante, B. (Bruna), Glorioso, N. (Nicola), Go, A.T.J.I. (Attie), Gottesman, R.F. (Rebecca), Gräßler, J. (Jürgen), Grallert, H. (Harald), Grarup, N. (Niels), Gu, Y.-M. (Yu-Mei), Broer, L. (Linda), Ham, A.C. (Annelies), Hansen, T. (T.), Harris, T.B. (Tamara), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Heath, A.C. (Andrew), Henders, A.K. (Anjali), Hernandez, D.G. (Dena), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Hui, J. (Jennie), Husemoen, L.L. (Lise L.), Hutri-Kähönen, N. (Nina), Hysi, P.G. (Pirro), Illig, T. (Thomas), Jager, P.L. (Philip) de, Jalilzadeh, S. (Shapour), Jorgensen, T. (Torben), Jukema, J.W. (Jan Wouter), Juonala, M. (Markus), Kanoni, S. (Stavroula), Karaleftheri, M. (Maria), Khaw, K.T., Kinnunen, L. (Leena), Kittner, T. (Thomas), Koenig, W. (Wolfgang), Kolcic, I. (Ivana), Kovacs, P. (Peter), Krarup, N.T. (Nikolaj T.), Kratzer, W. (Wolfgang), Krüger, J. (Janine), Kuh, D. (Diana), Kumari, M. (Meena), Kyriakou, T. (Theodosios), Langenberg, C. (Claudia), Lannfelt, L. (Lars), Lanzani, C. (Chiara), Lotay, V. (Vaneet), Launer, L.J. (Lenore), Leander, K. (Karin), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y.-P. (Yan-Ping), Lobbens, S. (Stéphane), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Magnusson, P.K. (Patrik), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Milani, L. (Lili), Montgomery, G.W. (Grant W.), Morris, A.P. (Andrew), Narisu, N. (Narisu), Nelis, M. (Mari), Ong, K.K. (Ken), Palotie, A. (Aarno), Perusse, L. (Louis), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Pouta, A. (Anneli), Rheinberger, M. (Myriam), Ribel-Madsen, R. (Rasmus), Richards, M. (Marcus), Rice, K.M. (Kenneth), Rice, T.K. (Treva K.), Rivolta, C. (Carlo), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Scott, W.R. (William R.), Sebert, S. (Sylvain), Sengupta, S. (Sebanti), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Silveira, A. (Angela), Slagboom, P.E. (Eline), Smit, J.H. (Jan), Sparsø, T. (Thomas), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stringham, H.M. (Heather), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Syvänen, A.C., Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Völker, U. (Uwe), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waldenberger, M. (Melanie), Walker, R.W. (Ryan W.), Wennauer, R. (Roman), Widen, E., Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Van Dijk, S. (Suzanne), Schoor, N.M. (Natasja) van, Asselbergs, F.W. (Folkert), Bakker, P.I.W. (Paul) de, Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bennett, D.A. (David A.), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Böger, C.A. (Carsten), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Bornstein, S.R. (Stefan), Bottinger, E.P. (Erwin), Bouchard, C. (Claude), Chambers, J.C. (John), Chanock, S.J. (Stephen), Chasman, D.I. (Daniel), Cucca, F. (Francesco), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evans, D., Faire, U. (Ulf) de, Farrall, M. (Martin), Ferrucci, L. (Luigi), Ford, I. (Ian), Franke, L. (Lude), Franks, P.W. (Paul), Froguel, P. (Philippe), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hall, P. (Per), Hamsten, A. (Anders), Harst, P. (Pim) van der, Hayward, C. (Caroline), Heliovaara, M. (Markku), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hofman, A. (Albert), Hu, F. (Frank), Huikuri, H.V. (Heikki), Hveem, K. (Kristian), James, A. (Alan), Jordan, J.M. (Joanne M.), Jula, A. (Antti), Kähönen, M. (Mika), Kajantie, E. (Eero), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kivimaki, M. (Mika), Knekt, P., Koistinen, H. (Heikki), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kuusisto, J. (Johanna), Maerz, W. (Winfried), Martin, N.G. (Nicholas), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Levinson, D.F. (Douglas), Kao, W.H.L. (Wen), Lokki, M.L., Mäntyselkä, P. (Pekka), Melbye, M. (Mads), Metspalu, A. (Andres), Mitchell, B.D. (Braxton), Moll, F.L. (Frans), Murray, J.C. (Jeffrey), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palmer, C. (Cameron), Pankow, J.S. (James), Pasterkamp, G. (Gerard), Pedersen, N.L. (Nancy), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Quertermous, T. (Thomas), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Rioux, J.D. (John), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Saltevo, J. (Juha), Sattar, N. (Naveed), Schunkert, H. (Heribert), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Sinisalo, J. (Juha), Snieder, H. (Harold), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Staessen, J.A. (Jan A.), Stefania, B. (Bandinelli), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tardif, J.-C. (Jean-Claude), Tremoli, E. (Elena), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Verbeek, A.L.M., Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Vitart, V. (Veronique), Völzke, H. (Henry), Vollenweider, P. (Peter), Waeber, G. (Gérard), Walker, M. (Mark), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Zeggini, E. (Eleftheria), Chakravarti, A. (Aravinda), Clegg, D.J. (Deborah J.), Cupples, L.A. (Adrienne), Gordon-Larsen, P. (Penny), Jaquish, C.E. (Cashell), Rao, D.C. (Dabeeru C.), Abecasis, G.R. (Goncalo R.), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark I.), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia M.), Heid, I.M. (Iris), North, K.E. (Kari), Borecki, I.B. (Ingrid), Kutalik, Z. (Zoltán), Loos, R.J.F. (Ruth), Winkler, T.W. (Thomas W.), Justice, A.E. (Anne), Graff, M.J. (Maud J.L.), Barata, L. (Llilda), Feitosa, M.F. (Mary Furlan), Chu, S. (Su), Czajkowski, J. (Jacek), Esko, T. (Tõnu), Fall, M. (Magnus), Kilpeläinen, T.O. (Tuomas), Lu, Y. (Yingchang), Mägi, R. (Reedik), Mihailov, E. (Evelin), Pers, T.H. (Tune), Rüeger, S. (Sina), Teumer, A. (Alexander), Ehret, G.B. (Georg), Ferreira, T. (Teresa), Heard-Costa, N.L. (Nancy), Karjalainen, J. (Juha), Lagou, V. (Vasiliki), Mahajan, A. (Anubha), Neinast, M.D. (Michael D.), Prokopenko, I. (Inga), Simino, J. (Jeannette), Teslovich, T.M. (Tanya M.), Jansen, R., Westra, H.J. (Harm-Jan), White, C.C. (Charles), Absher, D. (Devin), Ahluwalia, T.S. (Tarunveer Singh), Ahmad, S. (Shafqat), Albrecht, E. (Eva), Alves, A.C. (Alexessander Couto), Bragg-Gresham, J.L. (Jennifer L.), Craen, A.J. (Anton) de, Bis, J.C. (Joshua), Bonnefond, A. (Amélie), Boucher, G. (Gabrielle), Cadby, G. (Gemma), Cheng, Y.-C. (Yu-Ching), Chiang, C.W. (Charleston W K), Delgado, G., Demirkan, A. (Ayşe), Dueker, N. (Nicole), Eklund, N. (Niina), Eiriksdottir, G. (Gudny), Eriksson, J. (Joel), Feenstra, B. (Bjarke), Fischer, K. (Krista), Frau, F. (Francesca), Galesloot, T.E. (Tessel), Geller, F. (Frank), Goel, A. (Anuj), Gorski, M. (Mathias), Grammer, T.B. (Tanja), Gustafsson, S. (Stefan), Haitjema, S. (Saskia), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Jacobs, K.B. (Kevin), Johansson, A. (Åsa), Kaakinen, M. (Marika), Kleber, M.E. (Marcus), Lahti, J. (Jari), Leach, I.M. (Irene Mateo), Lehne, B. (Benjamin), Liu, Y. (Youfang), Lo, K.S., Lorentzon, M. (Mattias), Luan, J. (Jian'An), Madden, P.A. (Pamela), Mangino, M. (Massimo), McKnight, B. (Barbara), Medina-Gomez, C. (Carolina), Monda, K.L. (Keri), Montasser, M.E. (May E.), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nolte, I.M. (Ilja), Panoutsopoulou, K. (Kalliope), Pascoe, L. (Laura), Paternoster, L. (Lavinia), Rayner, N.W. (Nigel William), Renström, F. (Frida), Rizzi, F. (Federica), Rose, L.M. (Lynda), Ryan, K.A. (Kathy A.), Salo, P. (Perttu), Sanna, S. (Serena), Scharnagl, H. (Hubert), Shi, J. (Jianxin), Smith, A.V. (Albert Vernon), Southam, L. (Lorraine), Stancáková, A. (Alena), Steinthorsdottir, V. (Valgerdur), Strawbridge, R.J. (Rona), Sung, Y.J. (Yun Ju), Tachmazidou, I. (Ioanna), Tanaka, T. (Toshiko), Thorleifsson, G. (Gudmar), Trompet, S. (Stella), Pervjakova, N. (Natalia), Tyrer, J.P. (Jonathan), Vandenput, L. (Liesbeth), Van Der Laan, S.W. (Sander W.), Velde, N. (Nathalie) van der, Setten, J. (Jessica) van, Vliet-Ostaptchouk, J.V. (Jana) van, Verweij, N. (Niek), Vlachopoulou, E. (Efthymia), Waite, L. (Lindsay), Wang, S.R. (Sophie), Wang, Z. (Zhaoming), Wild, S.H. (Sarah), Willenborg, C. (Christina), Wilson, J.F. (James), Wong, A. (Andrew), Yang, J. (Jian), Yengo, L. (Loic), Yerges-Armstrong, L.M. (Laura), Yu, L. (Lei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Andersson, E.A. (Ehm Astrid), Bakker, S.J.L. (Stephan), Baldassarre, D. (Damiano), Banasik, K. (Karina), Barcella, M. (Matteo), Barlassina, C. (Cristina), Bellis, C. (Claire), Benaglio, P. (Paola), Blangero, J. (John), Blüher, M. (Matthias), Bonnet, F. (Fabrice), Bonnycastle, L.L. (Lori), Boyd, H.A. (Heather), Bruinenberg, M. (M.), Buchman, A.S. (Aron S.), Campbell, H. (Harry), Chen, Y.D. (Y.), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Cole, J.W. (John W.), Collins, F.S. (Francis), Geus, E.J.C. (Eco) de, Groot, L.C.P.G.M. (Lisette) de, Dimitriou, M. (Maria), Duan, J. (Jubao), Enroth, S. (Stefan), Eury, E. (Elodie), Farmaki, A.-E. (Aliki-Eleni), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gejman, P.V. (Pablo), Gigante, B. (Bruna), Glorioso, N. (Nicola), Go, A.T.J.I. (Attie), Gottesman, R.F. (Rebecca), Gräßler, J. (Jürgen), Grallert, H. (Harald), Grarup, N. (Niels), Gu, Y.-M. (Yu-Mei), Broer, L. (Linda), Ham, A.C. (Annelies), Hansen, T. (T.), Harris, T.B. (Tamara), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Heath, A.C. (Andrew), Henders, A.K. (Anjali), Hernandez, D.G. (Dena), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Hui, J. (Jennie), Husemoen, L.L. (Lise L.), Hutri-Kähönen, N. (Nina), Hysi, P.G. (Pirro), Illig, T. (Thomas), Jager, P.L. (Philip) de, Jalilzadeh, S. (Shapour), Jorgensen, T. (Torben), Jukema, J.W. (Jan Wouter), Juonala, M. (Markus), Kanoni, S. (Stavroula), Karaleftheri, M. (Maria), Khaw, K.T., Kinnunen, L. (Leena), Kittner, T. (Thomas), Koenig, W. (Wolfgang), Kolcic, I. (Ivana), Kovacs, P. (Peter), Krarup, N.T. (Nikolaj T.), Kratzer, W. (Wolfgang), Krüger, J. (Janine), Kuh, D. (Diana), Kumari, M. (Meena), Kyriakou, T. (Theodosios), Langenberg, C. (Claudia), Lannfelt, L. (Lars), Lanzani, C. (Chiara), Lotay, V. (Vaneet), Launer, L.J. (Lenore), Leander, K. (Karin), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y.-P. (Yan-Ping), Lobbens, S. (Stéphane), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Magnusson, P.K. (Patrik), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Milani, L. (Lili), Montgomery, G.W. (Grant W.), Morris, A.P. (Andrew), Narisu, N. (Narisu), Nelis, M. (Mari), Ong, K.K. (Ken), Palotie, A. (Aarno), Perusse, L. (Louis), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Pouta, A. (Anneli), Rheinberger, M. (Myriam), Ribel-Madsen, R. (Rasmus), Richards, M. (Marcus), Rice, K.M. (Kenneth), Rice, T.K. (Treva K.), Rivolta, C. (Carlo), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Scott, W.R. (William R.), Sebert, S. (Sylvain), Sengupta, S. (Sebanti), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Silveira, A. (Angela), Slagboom, P.E. (Eline), Smit, J.H. (Jan), Sparsø, T. (Thomas), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stringham, H.M. (Heather), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Syvänen, A.C., Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Völker, U. (Uwe), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waldenberger, M. (Melanie), Walker, R.W. (Ryan W.), Wennauer, R. (Roman), Widen, E., Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Van Dijk, S. (Suzanne), Schoor, N.M. (Natasja) van, Asselbergs, F.W. (Folkert), Bakker, P.I.W. (Paul) de, Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bennett, D.A. (David A.), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Böger, C.A. (Carsten), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Bornstein, S.R. (Stefan), Bottinger, E.P. (Erwin), Bouchard, C. (Claude), Chambers, J.C. (John), Chanock, S.J. (Stephen), Chasman, D.I. (Daniel), Cucca, F. (Francesco), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evans, D., Faire, U. (Ulf) de, Farrall, M. (Martin), Ferrucci, L. (Luigi), Ford, I. (Ian), Franke, L. (Lude), Franks, P.W. (Paul), Froguel, P. (Philippe), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hall, P. (Per), Hamsten, A. (Anders), Harst, P. (Pim) van der, Hayward, C. (Caroline), Heliovaara, M. (Markku), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hofman, A. (Albert), Hu, F. (Frank), Huikuri, H.V. (Heikki), Hveem, K. (Kristian), James, A. (Alan), Jordan, J.M. (Joanne M.), Jula, A. (Antti), Kähönen, M. (Mika), Kajantie, E. (Eero), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kivimaki, M. (Mika), Knekt, P., Koistinen, H. (Heikki), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kuusisto, J. (Johanna), Maerz, W. (Winfried), Martin, N.G. (Nicholas), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Levinson, D.F. (Douglas), Kao, W.H.L. (Wen), Lokki, M.L., Mäntyselkä, P. (Pekka), Melbye, M. (Mads), Metspalu, A. (Andres), Mitchell, B.D. (Braxton), Moll, F.L. (Frans), Murray, J.C. (Jeffrey), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palmer, C. (Cameron), Pankow, J.S. (James), Pasterkamp, G. (Gerard), Pedersen, N.L. (Nancy), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Quertermous, T. (Thomas), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Rioux, J.D. (John), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Saltevo, J. (Juha), Sattar, N. (Naveed), Schunkert, H. (Heribert), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Sinisalo, J. (Juha), Snieder, H. (Harold), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Staessen, J.A. (Jan A.), Stefania, B. (Bandinelli), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tardif, J.-C. (Jean-Claude), Tremoli, E. (Elena), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Verbeek, A.L.M., Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Vitart, V. (Veronique), Völzke, H. (Henry), Vollenweider, P. (Peter), Waeber, G. (Gérard), Walker, M. (Mark), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Zeggini, E. (Eleftheria), Chakravarti, A. (Aravinda), Clegg, D.J. (Deborah J.), Cupples, L.A. (Adrienne), Gordon-Larsen, P. (Penny), Jaquish, C.E. (Cashell), Rao, D.C. (Dabeeru C.), Abecasis, G.R. (Goncalo R.), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark I.), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia M.), Heid, I.M. (Iris), North, K.E. (Kari), Borecki, I.B. (Ingrid), Kutalik, Z. (Zoltán), and Loos, R.J.F. (Ruth)
Abstract: Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age- and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to ~2.8M SNPs with BMI and WHRadjBMI in four strata (men ≤50y, men >50y, women ≤50y, women >50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR<5%) age-specific effects, of which 11 had larger effects in younger (<50y) than in older adults (≥50y). No sex-dependent effects were identified for B
Published: 2015
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27. Genome-wide studies of verbal declarative memory in nondemented older people: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium

Author: Debette, S. (Stéphanie), Ibrahim-Verbaas, C.A. (Carla), Bressler, J. (Jan), Schuur, M. (Maaike), Smith, A.V. (Davey), Bis, J.C. (Joshua), Davies, G. (Gail), Wolf, C. (Christiane), Gudnason, V. (Vilmundur), Chibnik, L.B. (Lori), Yang, Q. (Qiong Fang), DeStefano, A.L. (Anita), De Quervain, D.J.F. (Dominique J.F.), Srikanth, V. (Velandai), Lahti, J. (Jari), Grabe, H.J. (Hans Jörgen), Smith, J.A. (Jennifer A), Priebe, L., Yu, L. (Lei), Karbalai, N. (Nazanin), Hayward, C. (Caroline), Wilson, J.F. (James F), Campbell, H. (Harry), Petrovic, K. (Katja), Fornage, M. (Myriam), Chauhan, G. (Ganesh), Yeo, R. (Robin), Boxall, R. (Ruth), Becker, J.T. (James), Stegle, O. (Oliver), Mather, R., Chouraki, V. (Vincent), Sun, Q. (Qi), Rose, L.M. (Lynda), Resnick, S.M. (Susan), Oldmeadow, C. (Christopher), Kirin, M. (Mirna), Wright, A. (Alan), Jonsdottir, M.K. (Maria K.), Au, R. (Rhoda), Becker, A. (Albert), Amin, N. (Najaf), Nalls, M.A. (Michael), Turner, S.T. (Stephen), Kardia, S.L.R. (Sharon), Oostra, B.A. (Ben), Windham, G. (Gwen), Coker, L.H. (Laura), Zhao, W. (Wei), Knopman, D.S. (David), Heiss, G. (Gerardo), Griswold, M.D. (Michael), Gottesman, R.F. (Rebecca), Vitart, V. (Veronique), Hastie, N. (Nick), Zgaga, L. (Lina), Rudan, I. (Igor), Polasek, O. (Ozren), Holliday, E.G. (Elizabeth), Schofield, P. (Peter), Choi, S.-H. (Seung-Hoan), Tanaka, T. (Toshiko), An, Y. (Yang), Perry, R.T. (Rodney T.), Kennedy, R.E. (Richard E.), Sale, M.M. (Michèle M.), Wang, J. (Jing), Wadley, V.G. (Virginia G.), Liewald, D.C. (David C.), Ridker, P.M. (Paul), Gow, A.J. (Alan J.), Pattie, A. (Alison), Starr, J.M. (John), Porteous, D.J. (David J.), Liu, X. (Xuan), Thomson, R. (Russell), Armstrong, N.J. (Nicola), Eiriksdottir, G. (Gudny), Assareh, A.A. (Arezoo), Kochan, N.A. (Nicole A.), Widen, E. (Elisabeth), Palotie, A. (Aarno), Hsieh, Y.-C. (Yi-Chen), Eriksson, J.G. (Johan G.), Vogler, C. (Christian), Swieten, J.C. (John) van, Shulman, L. (Lee), Beiser, A. (Alexa), Rotter, J.I. (Jerome I.), Schmidt, C.O. (Carsten O.), Hoffmann, W. (Wolfgang), Nöthen, M.M. (Markus M.), Ferrucci, L. (Luigi), Attia, J. (John), Uitterlinden, A.G. (André), Amouyel, P. (Philippe), Dartigues, J.-F. (Jean-François), Amieva, H. (Hélène), Räikkönen, K. (Katri), Garcia, M. (Melissa), Wolf, P.A. (Philip), Hofman, A. (Albert), Longstreth Jr, W.T., Psaty, B.M. (Bruce), Boerwinkle, E.A. (Eric), DeJager, P.L. (Philip L.), Sachdev, P.S. (Perminder), Schmidt, R. (Reinhold), Breteler, M.M.B. (Monique), Teumer, A. (Alexander), Lopez, O.L. (Oscar), Cichon, S. (Sven), Chasman, D.I. (Daniel), Grodstein, F. (Francine), Müller-Myhsok, B. (B.), Tzourio, C. (Christophe), Papassotiropoulos, A. (Andreas), Bennett, D.A. (David), Ikram, M.A. (Arfan), Deary, I.J. (Ian), Duijn, C.M. (Cornelia) van, Launer, L.J. (Lenore), Fitzpatrick, A.L. (Annette), Seshadri, S. (Sudha), Mosley, T.H. (Thomas H.), Debette, S. (Stéphanie), Ibrahim-Verbaas, C.A. (Carla), Bressler, J. (Jan), Schuur, M. (Maaike), Smith, A.V. (Davey), Bis, J.C. (Joshua), Davies, G. (Gail), Wolf, C. (Christiane), Gudnason, V. (Vilmundur), Chibnik, L.B. (Lori), Yang, Q. (Qiong Fang), DeStefano, A.L. (Anita), De Quervain, D.J.F. (Dominique J.F.), Srikanth, V. (Velandai), Lahti, J. (Jari), Grabe, H.J. (Hans Jörgen), Smith, J.A. (Jennifer A), Priebe, L., Yu, L. (Lei), Karbalai, N. (Nazanin), Hayward, C. (Caroline), Wilson, J.F. (James F), Campbell, H. (Harry), Petrovic, K. (Katja), Fornage, M. (Myriam), Chauhan, G. (Ganesh), Yeo, R. (Robin), Boxall, R. (Ruth), Becker, J.T. (James), Stegle, O. (Oliver), Mather, R., Chouraki, V. (Vincent), Sun, Q. (Qi), Rose, L.M. (Lynda), Resnick, S.M. (Susan), Oldmeadow, C. (Christopher), Kirin, M. (Mirna), Wright, A. (Alan), Jonsdottir, M.K. (Maria K.), Au, R. (Rhoda), Becker, A. (Albert), Amin, N. (Najaf), Nalls, M.A. (Michael), Turner, S.T. (Stephen), Kardia, S.L.R. (Sharon), Oostra, B.A. (Ben), Windham, G. (Gwen), Coker, L.H. (Laura), Zhao, W. (Wei), Knopman, D.S. (David), Heiss, G. (Gerardo), Griswold, M.D. (Michael), Gottesman, R.F. (Rebecca), Vitart, V. (Veronique), Hastie, N. (Nick), Zgaga, L. (Lina), Rudan, I. (Igor), Polasek, O. (Ozren), Holliday, E.G. (Elizabeth), Schofield, P. (Peter), Choi, S.-H. (Seung-Hoan), Tanaka, T. (Toshiko), An, Y. (Yang), Perry, R.T. (Rodney T.), Kennedy, R.E. (Richard E.), Sale, M.M. (Michèle M.), Wang, J. (Jing), Wadley, V.G. (Virginia G.), Liewald, D.C. (David C.), Ridker, P.M. (Paul), Gow, A.J. (Alan J.), Pattie, A. (Alison), Starr, J.M. (John), Porteous, D.J. (David J.), Liu, X. (Xuan), Thomson, R. (Russell), Armstrong, N.J. (Nicola), Eiriksdottir, G. (Gudny), Assareh, A.A. (Arezoo), Kochan, N.A. (Nicole A.), Widen, E. (Elisabeth), Palotie, A. (Aarno), Hsieh, Y.-C. (Yi-Chen), Eriksson, J.G. (Johan G.), Vogler, C. (Christian), Swieten, J.C. (John) van, Shulman, L. (Lee), Beiser, A. (Alexa), Rotter, J.I. (Jerome I.), Schmidt, C.O. (Carsten O.), Hoffmann, W. (Wolfgang), Nöthen, M.M. (Markus M.), Ferrucci, L. (Luigi), Attia, J. (John), Uitterlinden, A.G. (André), Amouyel, P. (Philippe), Dartigues, J.-F. (Jean-François), Amieva, H. (Hélène), Räikkönen, K. (Katri), Garcia, M. (Melissa), Wolf, P.A. (Philip), Hofman, A. (Albert), Longstreth Jr, W.T., Psaty, B.M. (Bruce), Boerwinkle, E.A. (Eric), DeJager, P.L. (Philip L.), Sachdev, P.S. (Perminder), Schmidt, R. (Reinhold), Breteler, M.M.B. (Monique), Teumer, A. (Alexander), Lopez, O.L. (Oscar), Cichon, S. (Sven), Chasman, D.I. (Daniel), Grodstein, F. (Francine), Müller-Myhsok, B. (B.), Tzourio, C. (Christophe), Papassotiropoulos, A. (Andreas), Bennett, D.A. (David), Ikram, M.A. (Arfan), Deary, I.J. (Ian), Duijn, C.M. (Cornelia) van, Launer, L.J. (Lenore), Fitzpatrick, A.L. (Annette), Seshadri, S. (Sudha), and Mosley, T.H. (Thomas H.)
Abstract: BACKGROUND: Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to identify genetic contributions to verbal declarative memory in a community setting. MET
Published: 2015
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28. Association of Alzheimer's disease GWAS loci with MRI markers of brain aging

Author: Chauhan, G. (Ganesh), Adams, H.H.H. (Hieab), Bis, J.C. (Joshua), Weinstein, G. (Galit), Yu, L. (Lei), Töglhofer, A.M. (Anna Maria), Smith, A.V. (Davey), Lee, S.J. (Sven) van der, Gottesman, R.F. (Rebecca), Thomson, R. (Russell), Wang, J. (Jing), Yang, Q. (Qiong Fang), Niessen, W.J. (Wiro), Lopez, O.L. (Oscar), Becker, J.T. (James), Phan, T.G. (Thanh), Beare, R.J. (Richard), Arfanakis, K. (Konstantinos), Fleischman, D. (Debra), Vernooij, M.W. (Meike), Mazoyer, B. (Bernard), Schmidt, R. (Reinhold), Srikanth, V. (Velandai), Knopman, D.S. (David), Jack Jr., C.R. (Clifford), Amouyel, P. (Philippe), Hofman, A. (Albert), DeCarli, C. (Charles), Tzourio, C. (Christophe), Duijn, C.M. (Cornelia) van, Bennett, D.A. (David), Longstreth Jr, W.T., Mosley, T.H. (Thomas H.), Fornage, M. (Myriam), Launer, L.J. (Lenore), Seshadri, S. (Sudha), Ikram, M.A. (Arfan), Debette, S. (Stéphanie), Chauhan, G. (Ganesh), Adams, H.H.H. (Hieab), Bis, J.C. (Joshua), Weinstein, G. (Galit), Yu, L. (Lei), Töglhofer, A.M. (Anna Maria), Smith, A.V. (Davey), Lee, S.J. (Sven) van der, Gottesman, R.F. (Rebecca), Thomson, R. (Russell), Wang, J. (Jing), Yang, Q. (Qiong Fang), Niessen, W.J. (Wiro), Lopez, O.L. (Oscar), Becker, J.T. (James), Phan, T.G. (Thanh), Beare, R.J. (Richard), Arfanakis, K. (Konstantinos), Fleischman, D. (Debra), Vernooij, M.W. (Meike), Mazoyer, B. (Bernard), Schmidt, R. (Reinhold), Srikanth, V. (Velandai), Knopman, D.S. (David), Jack Jr., C.R. (Clifford), Amouyel, P. (Philippe), Hofman, A. (Albert), DeCarli, C. (Charles), Tzourio, C. (Christophe), Duijn, C.M. (Cornelia) van, Bennett, D.A. (David), Longstreth Jr, W.T., Mosley, T.H. (Thomas H.), Fornage, M. (Myriam), Launer, L.J. (Lenore), Seshadri, S. (Sudha), Ikram, M.A. (Arfan), and Debette, S. (Stéphanie)
Abstract: Whether novel risk variants of Alzheimer's disease (AD) identified through genome-wide association studies also influence magnetic resonance imaging-based intermediate phenotypes of AD in the general population is unclear. We studied association of 24 AD risk loci with intracranial volume, total brain volume, hippocampal volume (HV), white matter hyperintensity burden, and brain infarcts in a meta-analysis of genetic association studies from large population-based samples (N= 8175-11,550). In single-SNP based tests, AD risk allele of APOE (rs2075650) was associated with smaller HV (. p= 0.0054) and CD33 (rs3865444) with smaller intracranial volume (. p= 0.0058). In gene-based tests, there was associations of HLA-DRB1 with total brain volume (. p= 0.0006) and BIN1 with HV (. p= 0.00089). Aweighted AD genetic risk score was associated with smaller HV (beta ± SE=-0.047 ± 0.013, p= 0.00041), even after excluding the APOE locus (. p= 0.029). However, only association of AD genetic risk score with HV, including APOE, was significant after multiple testing correction (including number of independent phenotypes tested). These results suggest that novel AD genetic risk variants may contribute to structural brain aging in nondemented older community persons.
Published: 2015
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29. Genetic diversity is a predictor of mortality in humans

Author: Bihlmeyer, N.A. (Nathan A.), Brody, J.A. (Jennifer A.), Smith, A.V. (Davey), Lunetta, K.L. (Kathryn), Nalls, M.A. (Michael), Smith, J.A. (Jennifer A), Tanaka, T. (Toshiko), Davies, G. (Gail), Yu, L. (Lei), Mirza, S.S. (Saira), Teumer, A. (Alexander), Coresh, J. (Josef), Pankow, J.S. (James), Franceschini, N. (Nora), Scaria, A. (Anish), Oshima, J. (Junko), Psaty, B.M. (Bruce), Gudnason, V. (Vilmundur), Eiriksdottir, G. (Gudny), Harris, T.B. (Tamara), Li, H. (Hanyue), Karasik, D. (David), Kiel, D.P. (Douglas P.), Garcia, M. (Melissa), Liu, Y. (YongMei), Faul, J.D. (Jessica D.), Kardia, S.L. (Sharon L.r), Zhao, W. (Wei), Ferrucci, L. (Luigi), Allerhand, M.M. (Michael), Liewald, D.C.M. (David), Redmond, P. (Paul), Starr, J.M. (John), Jager, P.L. (Philip) de, Evans, D.A. (Denis), Direk, N. (Nese), Ikram, M.A. (Arfan), Uitterlinden, A.G. (André), Homuth, G. (Georg), Lorbeer, R. (Roberto), Grabe, H.J. (Hans Jörgen), Launer, L.J. (Lenore), Murabito, J. (Joanne), Singleton, A. (Andrew), Weir, D.R. (David), Bandinelli, S. (Stefania), Deary, I.J. (Ian), Bennett, D.A. (David A.), Tiemeier, H.W. (Henning), Kocher, T. (Thomas), Lumley, T. (Thomas), Arking, D.E. (Dan), Bihlmeyer, N.A. (Nathan A.), Brody, J.A. (Jennifer A.), Smith, A.V. (Davey), Lunetta, K.L. (Kathryn), Nalls, M.A. (Michael), Smith, J.A. (Jennifer A), Tanaka, T. (Toshiko), Davies, G. (Gail), Yu, L. (Lei), Mirza, S.S. (Saira), Teumer, A. (Alexander), Coresh, J. (Josef), Pankow, J.S. (James), Franceschini, N. (Nora), Scaria, A. (Anish), Oshima, J. (Junko), Psaty, B.M. (Bruce), Gudnason, V. (Vilmundur), Eiriksdottir, G. (Gudny), Harris, T.B. (Tamara), Li, H. (Hanyue), Karasik, D. (David), Kiel, D.P. (Douglas P.), Garcia, M. (Melissa), Liu, Y. (YongMei), Faul, J.D. (Jessica D.), Kardia, S.L. (Sharon L.r), Zhao, W. (Wei), Ferrucci, L. (Luigi), Allerhand, M.M. (Michael), Liewald, D.C.M. (David), Redmond, P. (Paul), Starr, J.M. (John), Jager, P.L. (Philip) de, Evans, D.A. (Denis), Direk, N. (Nese), Ikram, M.A. (Arfan), Uitterlinden, A.G. (André), Homuth, G. (Georg), Lorbeer, R. (Roberto), Grabe, H.J. (Hans Jörgen), Launer, L.J. (Lenore), Murabito, J. (Joanne), Singleton, A. (Andrew), Weir, D.R. (David), Bandinelli, S. (Stefania), Deary, I.J. (Ian), Bennett, D.A. (David A.), Tiemeier, H.W. (Henning), Kocher, T. (Thomas), Lumley, T. (Thomas), and Arking, D.E. (Dan)
Abstract: BACKGROUND: It has been well-established, both by population genetics theory and direct observation in many organisms, that increased genetic
Published: 2014
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30. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

Author: Escott-Price, V. (Valentina), Bellenguez, C. (Céline), Wang, L.S. (Li-San), Choi, S.-H. (Seung-Hoan), Harold, D. (Denise), Jones, L. (Louisa), Holmans, P.A. (Peter), Gerrish, A. (Amy), Vedernikov, A. (Alexey), Richards, A. (Alex), DeStefano, A.L. (Anita), Lambert, J.-C. (J.), Ibrahim-Verbaas, C.A. (Carla), Naj, A.C. (Adam), Sims, R. (Rebecca), Jun, Y. (Yang), Bis, J.C. (Joshua), Beecham, G.W. (Gary), Grenier-Boley, B. (Benjamin), Russo, G. (Giancarlo), Thornton-Wells, T.A. (Tricia), Denning, N. (Nicola), Smith, A.V. (Davey), Chouraki, V. (Vincent), Thomas, C. (Charlene), Ikram, M.A. (Arfan), Zelenika, D. (Diana), Vardarajan, B.N. (Badri), Kamatani, Y. (Yoichiro), Lin, C.-F. (Chiao-Feng), Schmidt, R. (Reinhold), Kunkle, B. (Brian), Dunstan, M.L. (Melanie), Vronskaya, M. (Maria), Johnson, A.D. (Andrew), Ruiz, A. (Agustin), Bihoreau, M.-T. (Marie-Thérèse), Reitz, C. (Christiane), Pasquier, F. (Florence), Hollingworth, P. (Paul), Hanon, O. (Olivier), Fitzpatrick, A.L. (Annette), Buxbaum, J.D. (Joseph D), Campion, D. (Dominique), Crane, L.M.A., Becker, C.B.T. (Clinton), Gudnason, V. (Vilmundur), Cruchaga, C. (Carlos), Craig, D. (David), Amin, N. (Najaf), Berr, C. (Claudine), Lopez, O.L. (Oscar), Jager, P.L. (Philip) de, Deramecourt, V. (Vincent), Johnston, J.A. (Janet), Evans, D.A. (Denis), Lovestone, S. (Simon), Letenneur, L., Hernández, I. (Isabel), Rubinsztein, D.C. (David), Eiriksdottir, G. (Gudny), Sleegers, K. (Kristel), Goate, A.M. (Alison), Fiévet, N. (Nathalie), Huentelman, M.J. (Matthew), Gill, M. (Michael), Brown, K. (Kristelle), Kamboh, M.I. (M. Ilyas), Keller, L. (Lina), Barberger-Gateau, P. (Pascale), McGuinness, B. (Bernadette), Larson, E.B. (Eric), Myers, A.J. (Amanda), Dufouil, C. (Carole), Todd, S. (Stephen), Wallon, D. (David), Love, S. (Seth), Rogaeva, E. (Ekaterina), Gallacher, J. (John), St George-Hyslop, P.H. (Peter), Clarimon, J. (Jordi), Lleo, A. (Alberto), Bayer, T. (T.), Tsuang, D.W. (Debby), Yu, L. (Lei), Tsolaki, M. (Magda), Bossù, P. (Paola), Spalletta, G. (Gianfranco), Proitsi, P. (Petroula), Collinge, J. (John), Sorbi, S. (Sandro), Sanchez Garcia, F. (Florentino), Fox, N.C. (Nick), Hardy, J. (John), Naranjo, A. (Antonio), Bosco, P. (Paolo), Clarke, R. (Robert), Brayne, C. (Carol), Galimberti, D. (Daniela), Scarpini, E. (Elio), Bonuccelli, U. (Ubaldo), Mancuso, M. (Michelangelo), Siciliano, G. (Gabriele), Moebus, S. (Susanne), Mecocci, P. (Patrizia), Zompo, M.D. (Maria) del, Maier, W. (Wolfgang), Hampel, H. (Harald), Pilotto, A. (Alberto), Frank-Garcia, A. (Ana), Panza, F. (Francesco), Solfrizzi, V. (Vincenzo), Caffarra, P. (Paolo), Nacmias, B. (Benedetta), Perry, W. (William), Mayhaus, M. (Manuel), Lannfelt, L. (Lars), Hakonarson, H. (Hakon), Pichler, I. (Irene), Carrasquillo, M.M. (Minerva), Ingelsson, M. (Martin), Beekly, D. (Duane), Alvarez, V. (Victoria), Zou, F. (Fanggeng), Valladares, O. (Otto), Younkin, S., Coto, E. (Eliecer), Hamilton-Nelson, K.L. (Kara), Gu, W. (Wei), Razquin, C. (Cristina), Pastor, P. (Pau), Mateo, I. (Ignacio), Owen, M.J. (Michael), Faber, K.M. (Kelley), Jonsson, P.V. (Palmi), Combarros, O. (Onofre), O'Donovan, M. (Michael), Cantwell, L.B. (Laura), Soininen, H. (Hilkka), Blacker, D. (Deborah), Mead, S. (Simon), Mosley, T.H. (Thomas), Bennett, D.A. (David), Harris, T.B. (Tamara), Fratiglioni, L. (Laura), Holmes, C. (Clive), Bruijn, R.F.A.G. (Renée) de, Passmore, P.A. (Peter), Montine, T.J. (Thomas), Bettens, K. (Karolien), Rotter, J.I. (Jerome), Brice, A., Morgan, K. (Kevin), Foroud, T. (Tatiana), Kukull, W.A., Hannequin, D. (Didier), Powell, J. (John), Nalls, M.A. (Michael), Ritchie, K. (Karen), Lunetta, K.L. (Kathryn), Kauwe, J.S.K. (John), Boerwinkle, E.A. (Eric), Riemenschneider, M. (Matthias), Boada, M. (Mercè), Hiltunen, M. (Mikko), Martin, E.R. (Eden), Rujescu, D. (Dan), Dartigues, J.-F., Mayeux, R. (Richard), Tzourio, C. (Christophe), Hofman, A. (Albert), Nöthen, M.M. (Markus), Graff, M.J. (Maud J.L.), Psaty, B.M. (Bruce), Haines, J.L. (Jonathan), Lathrop, M. (Mark), Pericak-Vance, M.A. (Margaret), Launer, L.J. (Lenore), Broeckhoven, C. (Christine) van, Farrer, L.A. (Lindsay), Duijn, C.M. (Cornelia) van, Ramirez, A. (Alfredo), Seshadri, S. (Sudha), Schellenberg, G.D. (Gerard), Amouyel, P. (Philippe), Williams, J. (Julie), Escott-Price, V. (Valentina), Bellenguez, C. (Céline), Wang, L.S. (Li-San), Choi, S.-H. (Seung-Hoan), Harold, D. (Denise), Jones, L. (Louisa), Holmans, P.A. (Peter), Gerrish, A. (Amy), Vedernikov, A. (Alexey), Richards, A. (Alex), DeStefano, A.L. (Anita), Lambert, J.-C. (J.), Ibrahim-Verbaas, C.A. (Carla), Naj, A.C. (Adam), Sims, R. (Rebecca), Jun, Y. (Yang), Bis, J.C. (Joshua), Beecham, G.W. (Gary), Grenier-Boley, B. (Benjamin), Russo, G. (Giancarlo), Thornton-Wells, T.A. (Tricia), Denning, N. (Nicola), Smith, A.V. (Davey), Chouraki, V. (Vincent), Thomas, C. (Charlene), Ikram, M.A. (Arfan), Zelenika, D. (Diana), Vardarajan, B.N. (Badri), Kamatani, Y. (Yoichiro), Lin, C.-F. (Chiao-Feng), Schmidt, R. (Reinhold), Kunkle, B. (Brian), Dunstan, M.L. (Melanie), Vronskaya, M. (Maria), Johnson, A.D. (Andrew), Ruiz, A. (Agustin), Bihoreau, M.-T. (Marie-Thérèse), Reitz, C. (Christiane), Pasquier, F. (Florence), Hollingworth, P. (Paul), Hanon, O. (Olivier), Fitzpatrick, A.L. (Annette), Buxbaum, J.D. (Joseph D), Campion, D. (Dominique), Crane, L.M.A., Becker, C.B.T. (Clinton), Gudnason, V. (Vilmundur), Cruchaga, C. (Carlos), Craig, D. (David), Amin, N. (Najaf), Berr, C. (Claudine), Lopez, O.L. (Oscar), Jager, P.L. (Philip) de, Deramecourt, V. (Vincent), Johnston, J.A. (Janet), Evans, D.A. (Denis), Lovestone, S. (Simon), Letenneur, L., Hernández, I. (Isabel), Rubinsztein, D.C. (David), Eiriksdottir, G. (Gudny), Sleegers, K. (Kristel), Goate, A.M. (Alison), Fiévet, N. (Nathalie), Huentelman, M.J. (Matthew), Gill, M. (Michael), Brown, K. (Kristelle), Kamboh, M.I. (M. Ilyas), Keller, L. (Lina), Barberger-Gateau, P. (Pascale), McGuinness, B. (Bernadette), Larson, E.B. (Eric), Myers, A.J. (Amanda), Dufouil, C. (Carole), Todd, S. (Stephen), Wallon, D. (David), Love, S. (Seth), Rogaeva, E. (Ekaterina), Gallacher, J. (John), St George-Hyslop, P.H. (Peter), Clarimon, J. (Jordi), Lleo, A. (Alberto), Bayer, T. (T.), Tsuang, D.W. (Debby), Yu, L. (Lei), Tsolaki, M. (Magda), Bossù, P. (Paola), Spalletta, G. (Gianfranco), Proitsi, P. (Petroula), Collinge, J. (John), Sorbi, S. (Sandro), Sanchez Garcia, F. (Florentino), Fox, N.C. (Nick), Hardy, J. (John), Naranjo, A. (Antonio), Bosco, P. (Paolo), Clarke, R. (Robert), Brayne, C. (Carol), Galimberti, D. (Daniela), Scarpini, E. (Elio), Bonuccelli, U. (Ubaldo), Mancuso, M. (Michelangelo), Siciliano, G. (Gabriele), Moebus, S. (Susanne), Mecocci, P. (Patrizia), Zompo, M.D. (Maria) del, Maier, W. (Wolfgang), Hampel, H. (Harald), Pilotto, A. (Alberto), Frank-Garcia, A. (Ana), Panza, F. (Francesco), Solfrizzi, V. (Vincenzo), Caffarra, P. (Paolo), Nacmias, B. (Benedetta), Perry, W. (William), Mayhaus, M. (Manuel), Lannfelt, L. (Lars), Hakonarson, H. (Hakon), Pichler, I. (Irene), Carrasquillo, M.M. (Minerva), Ingelsson, M. (Martin), Beekly, D. (Duane), Alvarez, V. (Victoria), Zou, F. (Fanggeng), Valladares, O. (Otto), Younkin, S., Coto, E. (Eliecer), Hamilton-Nelson, K.L. (Kara), Gu, W. (Wei), Razquin, C. (Cristina), Pastor, P. (Pau), Mateo, I. (Ignacio), Owen, M.J. (Michael), Faber, K.M. (Kelley), Jonsson, P.V. (Palmi), Combarros, O. (Onofre), O'Donovan, M. (Michael), Cantwell, L.B. (Laura), Soininen, H. (Hilkka), Blacker, D. (Deborah), Mead, S. (Simon), Mosley, T.H. (Thomas), Bennett, D.A. (David), Harris, T.B. (Tamara), Fratiglioni, L. (Laura), Holmes, C. (Clive), Bruijn, R.F.A.G. (Renée) de, Passmore, P.A. (Peter), Montine, T.J. (Thomas), Bettens, K. (Karolien), Rotter, J.I. (Jerome), Brice, A., Morgan, K. (Kevin), Foroud, T. (Tatiana), Kukull, W.A., Hannequin, D. (Didier), Powell, J. (John), Nalls, M.A. (Michael), Ritchie, K. (Karen), Lunetta, K.L. (Kathryn), Kauwe, J.S.K. (John), Boerwinkle, E.A. (Eric), Riemenschneider, M. (Matthias), Boada, M. (Mercè), Hiltunen, M. (Mikko), Martin, E.R. (Eden), Rujescu, D. (Dan), Dartigues, J.-F., Mayeux, R. (Richard), Tzourio, C. (Christophe), Hofman, A. (Albert), Nöthen, M.M. (Markus), Graff, M.J. (Maud J.L.), Psaty, B.M. (Bruce), Haines, J.L. (Jonathan), Lathrop, M. (Mark), Pericak-Vance, M.A. (Margaret), Launer, L.J. (Lenore), Broeckhoven, C. (Christine) van, Farrer, L.A. (Lindsay), Duijn, C.M. (Cornelia) van, Ramirez, A. (Alfredo), Seshadri, S. (Sudha), Schellenberg, G.D. (Gerard), Amouyel, P. (Philippe), and Williams, J. (Julie)
Published: 2014
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31. GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

Author: Rietveld, C.A. (Niels), Medland, S.E. (Sarah), Derringer, J., Yang, J. (Joanna), Esko, T. (Tõnu), Martin, N.W. (Nicolas), Westra, H.J. (Harm-Jan), Shakhbazov, K. (Konstantin), Abdellaoui, A. (Abdel), Agrawal, A. (Arpana), Albrecht, E. (Eva), Alizadeh, B.Z. (Behrooz), Amin, N. (Najaf), Barnard, J. (John), Baumeister, S.E. (Sebastian), Benke, P.J. (Paul), Bielak, L.F. (Lawrence F.), Boatman, J.A. (Jeffrey), Boyle, P.A. (Patricia), Davies, G. (Gail), Leeuw, C. (Christiaan) de, Eklund, N. (Niina), Evans, D.S. (Daniel), Ferhmann, R. (Rudolf), Fischer, K. (Krista), Gieger, C. (Christian), Gjessing, H.K. (Håkon), Hägg, S. (Sara), Harris, J.R. (Jennifer), Hayward, C. (Caroline), Holzapfel, C. (Christina), Ibrahim-Verbaas, C.A. (Carla), Ingelsson, E. (Erik), Jacobsson, B. (Bo), Joshi, P.K. (Peter), Juqessur, A. (Astanand), Kaakinen, M. (Marika), Kanoni, S. (Stavroula), Karjalainen, J. (Juha), Kolcic, I. (Ivana), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lahti, J. (Jari), Lee, S.H. (Sang Hong), Lin, P. (Peng), Lind, P.A. (Penelope), Liu, Y. (YongMei), Lohman, K. (Kurt), Loitfelder, M. (Marisa), Mcmahon, G. (George), Marques-Vidal, P. (Pedro), Meirelles, O., Milani, L. (Lili), Myhre, R. (Ronny), Nuotio, M.-L. (Marja-Liisa), Oldmeadow, C. (Christopher), Petrovic, K. (Katja), Peyrot, W.J. (Wouter ), Polasek, O. (Ozren), Quaye, L. (Lydia), Reinmaa, E. (Eva), Rice, J.P. (John), Rizzi, T.S. (Thais), Schmidt, H. (Helena), Schmidt, R. (Reinhold), Smith, A.V. (Davey), Smith, J.A. (Jennifer A), Tanaka, T. (Toshiko), Terracciano, A., Loos, M.J.H.M. (Matthijs) van der, Vitart, V. (Veronique), Völzke, H. (Henry), Wellmann, J. (Jürgen), Yu, L. (Lei), Zhao, W. (Wei), Allik, J., Attia, J. (John), Bandinelli, S. (Stefania), Bastardot, F. (Francois), Beauchamp, J.P. (Jonathan), Bennett, D.A. (David), Berger, K. (Klaus), Bierut, L.J. (Laura), Boomsma, D.I. (Dorret), Bültmann, U. (Ute), Campbell, H. (Harry), Chabris, C.F. (Christopher F.), Cherkas, L. (Lynn), Chung, M.K. (Mina), Cucca, F. (Francesco), Andrade, M. (Mariza) de, Jager, P.L. (Philip) de, Neve, J.E. (Jan-Emmanuel) de, Deary, I.J. (Ian), Dedoussis, G.V. (George), Deloukas, P. (Panagiotis), Dimitriou, M. (Maria), Eiríksdóttir, G. (Guoný), Elderson, M.F. (Martin), Eriksson, J.G. (Johan), Evans, D.M. (David), Faul, J.D. (Jessica), Ferrucci, L. (Luigi), Garcia, M. (Melissa), Grönberg, H. (Henrik), Guonason, V. (Vilmundur), Hall, P. (Per), Harris, J.M. (Juliette), Harris, T.B. (Tamara), Hastie, N. (Nick), Heath, A.C. (Andrew), Hernandez, D.G. (Dena), Hoffmann, W. (Wolfgang), Holle, R. (Rolf), Holliday, E.G. (Elizabeth), Hottenga, J.J. (Jouke Jan), Iacono, W.G. (William), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Kähönen, M. (Mika), Kaprio, J. (Jaakko), Kirkpatrick, R.M. (Robert), Kowgier, M. (Matthew), Latvala, A. (Antti), Launer, L.J. (Lenore), Lawlor, D.A. (Debbie), Lehtimäki, T. (Terho), Li, J. (Jingmei), Lichtenstein, P. (Paul), Lichtner, P. (Peter), Liewald, D.C.M. (David), Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Mäkinen, T. (Tuukka), Masala, G. (Giovanna), McGue, M. (Matt), Metspalu, A. (Andres), Mielck, A. (Andreas), Miller, M. (Michael), Montgomery, G.W. (Grant), Mukherjee, S. (Sutapa), Nyholt, D.R. (Dale), Oostra, B.A. (Ben), Palmer, C. (Cameron), Palotie, A. (Aarno), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peyser, P.A. (Patricia A.), Preisig, M. (Martin), Räikkönen, K. (Katri), Raitakari, O. (Olli), Realo, A. (Anu), Ring, S.M. (Susan), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Rustichini, A. (Aldo), Salomaa, V. (Veikko), Sarin, A.-P., Schlessinger, D., Scott, R.J. (Rodney), Snieder, H. (Harold), St Pourcain, B. (Beate), Starr, J.M. (John), Sul, J.H. (Jae Hoon), Surakka, I. (Ida), Svento, R. (Rauli), Teumer, A. (Alexander), Tiemeier, H.W. (Henning), Rooij, F.J.A. (Frank) van, Wagoner, D.R. (David) van, Vartiainen, E. (Erkki), Viikari, J. (Jorma), Vollenweider, P. (Peter), Vonk, J.M. (Judith), Waeber, G. (Gérard), Weir, D.R. (David), Wichmann, H.E. (Heinz Erich), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (James), Wright, A.F. (Alan), Conley, D. (Dalton), Davey-Smith, G. (George), Franke, L. (Lude), Groenen, P.J.F. (Patrick), Hofman, A. (Albert), Johannesson, M. (Magnus), Kardia, S.L.R. (Sharon), Krueger, R.F., Laibson, D. (David), Martin, N.G. (Nicholas), Meyer, M.N. (Michelle), Posthuma, D. (Danielle), Thurik, A.R. (Roy), Timpson, N.J. (Nicholas), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Visscher, P.M. (Peter), Benjamin, D.J. (Daniel J.), Cesarini, D. (David), Koellinger, Ph.D. (Philipp), Rietveld, C.A. (Niels), Medland, S.E. (Sarah), Derringer, J., Yang, J. (Joanna), Esko, T. (Tõnu), Martin, N.W. (Nicolas), Westra, H.J. (Harm-Jan), Shakhbazov, K. (Konstantin), Abdellaoui, A. (Abdel), Agrawal, A. (Arpana), Albrecht, E. (Eva), Alizadeh, B.Z. (Behrooz), Amin, N. (Najaf), Barnard, J. (John), Baumeister, S.E. (Sebastian), Benke, P.J. (Paul), Bielak, L.F. (Lawrence F.), Boatman, J.A. (Jeffrey), Boyle, P.A. (Patricia), Davies, G. (Gail), Leeuw, C. (Christiaan) de, Eklund, N. (Niina), Evans, D.S. (Daniel), Ferhmann, R. (Rudolf), Fischer, K. (Krista), Gieger, C. (Christian), Gjessing, H.K. (Håkon), Hägg, S. (Sara), Harris, J.R. (Jennifer), Hayward, C. (Caroline), Holzapfel, C. (Christina), Ibrahim-Verbaas, C.A. (Carla), Ingelsson, E. (Erik), Jacobsson, B. (Bo), Joshi, P.K. (Peter), Juqessur, A. (Astanand), Kaakinen, M. (Marika), Kanoni, S. (Stavroula), Karjalainen, J. (Juha), Kolcic, I. (Ivana), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lahti, J. (Jari), Lee, S.H. (Sang Hong), Lin, P. (Peng), Lind, P.A. (Penelope), Liu, Y. (YongMei), Lohman, K. (Kurt), Loitfelder, M. (Marisa), Mcmahon, G. (George), Marques-Vidal, P. (Pedro), Meirelles, O., Milani, L. (Lili), Myhre, R. (Ronny), Nuotio, M.-L. (Marja-Liisa), Oldmeadow, C. (Christopher), Petrovic, K. (Katja), Peyrot, W.J. (Wouter ), Polasek, O. (Ozren), Quaye, L. (Lydia), Reinmaa, E. (Eva), Rice, J.P. (John), Rizzi, T.S. (Thais), Schmidt, H. (Helena), Schmidt, R. (Reinhold), Smith, A.V. (Davey), Smith, J.A. (Jennifer A), Tanaka, T. (Toshiko), Terracciano, A., Loos, M.J.H.M. (Matthijs) van der, Vitart, V. (Veronique), Völzke, H. (Henry), Wellmann, J. (Jürgen), Yu, L. (Lei), Zhao, W. (Wei), Allik, J., Attia, J. (John), Bandinelli, S. (Stefania), Bastardot, F. (Francois), Beauchamp, J.P. (Jonathan), Bennett, D.A. (David), Berger, K. (Klaus), Bierut, L.J. (Laura), Boomsma, D.I. (Dorret), Bültmann, U. (Ute), Campbell, H. (Harry), Chabris, C.F. (Christopher F.), Cherkas, L. (Lynn), Chung, M.K. (Mina), Cucca, F. (Francesco), Andrade, M. (Mariza) de, Jager, P.L. (Philip) de, Neve, J.E. (Jan-Emmanuel) de, Deary, I.J. (Ian), Dedoussis, G.V. (George), Deloukas, P. (Panagiotis), Dimitriou, M. (Maria), Eiríksdóttir, G. (Guoný), Elderson, M.F. (Martin), Eriksson, J.G. (Johan), Evans, D.M. (David), Faul, J.D. (Jessica), Ferrucci, L. (Luigi), Garcia, M. (Melissa), Grönberg, H. (Henrik), Guonason, V. (Vilmundur), Hall, P. (Per), Harris, J.M. (Juliette), Harris, T.B. (Tamara), Hastie, N. (Nick), Heath, A.C. (Andrew), Hernandez, D.G. (Dena), Hoffmann, W. (Wolfgang), Holle, R. (Rolf), Holliday, E.G. (Elizabeth), Hottenga, J.J. (Jouke Jan), Iacono, W.G. (William), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Kähönen, M. (Mika), Kaprio, J. (Jaakko), Kirkpatrick, R.M. (Robert), Kowgier, M. (Matthew), Latvala, A. (Antti), Launer, L.J. (Lenore), Lawlor, D.A. (Debbie), Lehtimäki, T. (Terho), Li, J. (Jingmei), Lichtenstein, P. (Paul), Lichtner, P. (Peter), Liewald, D.C.M. (David), Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Mäkinen, T. (Tuukka), Masala, G. (Giovanna), McGue, M. (Matt), Metspalu, A. (Andres), Mielck, A. (Andreas), Miller, M. (Michael), Montgomery, G.W. (Grant), Mukherjee, S. (Sutapa), Nyholt, D.R. (Dale), Oostra, B.A. (Ben), Palmer, C. (Cameron), Palotie, A. (Aarno), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peyser, P.A. (Patricia A.), Preisig, M. (Martin), Räikkönen, K. (Katri), Raitakari, O. (Olli), Realo, A. (Anu), Ring, S.M. (Susan), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Rustichini, A. (Aldo), Salomaa, V. (Veikko), Sarin, A.-P., Schlessinger, D., Scott, R.J. (Rodney), Snieder, H. (Harold), St Pourcain, B. (Beate), Starr, J.M. (John), Sul, J.H. (Jae Hoon), Surakka, I. (Ida), Svento, R. (Rauli), Teumer, A. (Alexander), Tiemeier, H.W. (Henning), Rooij, F.J.A. (Frank) van, Wagoner, D.R. (David) van, Vartiainen, E. (Erkki), Viikari, J. (Jorma), Vollenweider, P. (Peter), Vonk, J.M. (Judith), Waeber, G. (Gérard), Weir, D.R. (David), Wichmann, H.E. (Heinz Erich), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (James), Wright, A.F. (Alan), Conley, D. (Dalton), Davey-Smith, G. (George), Franke, L. (Lude), Groenen, P.J.F. (Patrick), Hofman, A. (Albert), Johannesson, M. (Magnus), Kardia, S.L.R. (Sharon), Krueger, R.F., Laibson, D. (David), Martin, N.G. (Nicholas), Meyer, M.N. (Michelle), Posthuma, D. (Danielle), Thurik, A.R. (Roy), Timpson, N.J. (Nicholas), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Visscher, P.M. (Peter), Benjamin, D.J. (Daniel J.), Cesarini, D. (David), and Koellinger, Ph.D. (Philipp)
Published: 2013
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32. A genome-wide association study of depressive symptoms

Author: Hek, K. (Karin), Demirkan, A. (Ayşe), Lahti, J. (Jari), Terracciano, A., Teumer, A. (Alexander), Cornelis, M. (Marilyn), Amin, N. (Najaf), Bakshis, E. (Erin), Baumert, J. (Jens), Ding, J. (Jingzhong), Liu, Y. (YongMei), Marciante, K. (Kristin), Meirelles, O., Nalls, M.A. (Michael), Sun, Y.V. (Yan), Vogelzangs, N. (Nicole), Yu, L. (Lei), Bandinelli, S. (Stefania), Benjamin, E.J. (Emelia), Bennett, D.A. (David), Boomsma, D.I. (Dorret), Cannas, A., Coker, L.H. (Laura), Geus, E.J.C. (Eco) de, Jager, P.L. (Philip) de, Diez Roux, A.V. (Ana), Purcell, S. (Shaun), Hu, F.B. (Frank), Rimm, E., Hunter, D.J. (David), Jensen, M.K. (Majken), Curhan, G.C. (Gary), Rice, K.M. (Kenneth), Penman, A.D. (Alan), Rotter, J.I. (Jerome), Sotoodehnia, N. (Nona), Emeny, R. (Rebecca), Eriksson, J.G. (Johan), Evans, D.A. (Denis), Ferrucci, L. (Luigi), Fornage, M. (Myriam), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Illig, T. (Thomas), Kardia, S.L.R. (Sharon), Kelly-Hayes, M. (Margaret), Koenen, M.E. (Marjorie), Kraft, P. (Peter), Kuningas, M. (Maris), Massaro, J. (Joseph), Melzer, D. (David), Mulas, A. (Antonella), Mulder, C.L. (Niels), Murray, A. (Anna), Oostra, B.A. (Ben), Palotie, A. (Aarno), Penninx, B.W.J.H. (Brenda), Petersmann, A. (Astrid), Pilling, L.C. (Luke), Psaty, B.M. (Bruce), Rawal, R. (Rajesh), Reiman, E.M. (Eric), Schulz, A. (Ansgar), Shulman, L. (Lee), Singleton, A.B. (Andrew), Smith, A.V. (Davey), Sutin, A.R., Uitterlinden, A.G. (André), Völzke, H. (Henry), Widen, E. (Elisabeth), Yaffe, K. (Kristine), Zonderman, A.B. (Alan), Cucca, F. (Francesco), Harris, T.B. (Tamara), Ladwig, K.-H. (Karl-Heinz), Llewellyn, D.J. (David), Räikkönen, K. (Katri), Tanaka, T. (Toshiko), Duijn, C.M. (Cornelia) van, Grabe, H.J. (Hans Jörgen), Launer, L.J. (Lenore), Lunetta, K.L. (Kathryn), Mosley, T.H. (Thomas), Newman, A.B. (Anne), Tiemeier, H.W. (Henning), Murabito, J. (Joanne), Hek, K. (Karin), Demirkan, A. (Ayşe), Lahti, J. (Jari), Terracciano, A., Teumer, A. (Alexander), Cornelis, M. (Marilyn), Amin, N. (Najaf), Bakshis, E. (Erin), Baumert, J. (Jens), Ding, J. (Jingzhong), Liu, Y. (YongMei), Marciante, K. (Kristin), Meirelles, O., Nalls, M.A. (Michael), Sun, Y.V. (Yan), Vogelzangs, N. (Nicole), Yu, L. (Lei), Bandinelli, S. (Stefania), Benjamin, E.J. (Emelia), Bennett, D.A. (David), Boomsma, D.I. (Dorret), Cannas, A., Coker, L.H. (Laura), Geus, E.J.C. (Eco) de, Jager, P.L. (Philip) de, Diez Roux, A.V. (Ana), Purcell, S. (Shaun), Hu, F.B. (Frank), Rimm, E., Hunter, D.J. (David), Jensen, M.K. (Majken), Curhan, G.C. (Gary), Rice, K.M. (Kenneth), Penman, A.D. (Alan), Rotter, J.I. (Jerome), Sotoodehnia, N. (Nona), Emeny, R. (Rebecca), Eriksson, J.G. (Johan), Evans, D.A. (Denis), Ferrucci, L. (Luigi), Fornage, M. (Myriam), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Illig, T. (Thomas), Kardia, S.L.R. (Sharon), Kelly-Hayes, M. (Margaret), Koenen, M.E. (Marjorie), Kraft, P. (Peter), Kuningas, M. (Maris), Massaro, J. (Joseph), Melzer, D. (David), Mulas, A. (Antonella), Mulder, C.L. (Niels), Murray, A. (Anna), Oostra, B.A. (Ben), Palotie, A. (Aarno), Penninx, B.W.J.H. (Brenda), Petersmann, A. (Astrid), Pilling, L.C. (Luke), Psaty, B.M. (Bruce), Rawal, R. (Rajesh), Reiman, E.M. (Eric), Schulz, A. (Ansgar), Shulman, L. (Lee), Singleton, A.B. (Andrew), Smith, A.V. (Davey), Sutin, A.R., Uitterlinden, A.G. (André), Völzke, H. (Henry), Widen, E. (Elisabeth), Yaffe, K. (Kristine), Zonderman, A.B. (Alan), Cucca, F. (Francesco), Harris, T.B. (Tamara), Ladwig, K.-H. (Karl-Heinz), Llewellyn, D.J. (David), Räikkönen, K. (Katri), Tanaka, T. (Toshiko), Duijn, C.M. (Cornelia) van, Grabe, H.J. (Hans Jörgen), Launer, L.J. (Lenore), Lunetta, K.L. (Kathryn), Mosley, T.H. (Thomas), Newman, A.B. (Anne), Tiemeier, H.W. (Henning), and Murabito, J. (Joanne)
Abstract: Background: Depression is a heritable trait that exists on a continuum of varying severity and duration. Yet, the search for genetic variants associated with depression has had few successes. We exploit the entire continuum of depression to find common variants for depressive symptoms. Methods: In this genome-wide association study, we combined the results of 17 population-based studies assessing depressive symptoms with the Center for Epidemiological Studies Depression Scale. Replication of the independent top hits (p<1×10-5) was performed in five studies assessing depressive symptoms with other instruments. In addition, we performed a combined meta-analysis of all 22 discovery and replication studies. Results: The discovery sample comprised 34,549 individuals (mean age of 66.5) and no loci reached genome-wide significance (lowest p = 1.05×10-7). Seven independent single nucleotide polymorphisms were considered for replication. In the replication set (n = 16,709), we found suggestive association of one single nucleotide polymorphism with depressive symptoms (rs161645, 5q21, p = 9.19×10-3). This 5q21 region reached genome-wide significance (p = 4.78×10-8) in the overall meta-analysis combining discovery and replication studies (n = 51,258). Conclusions: The results suggest that only a large sample comprising more than 50,000 subjects may be sufficiently powered to detect genes for depressive symptoms.
Published: 2013
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33. A genome-wide association study of aging

Author: Walter, S. (Stefan), Atzmon, G. (Gil), Demerath, E.W. (Ellen), Garcia, M. (Melissa), Kaplan, R.C. (Robert), Kumari, M. (Meena), Lunetta, K.L. (Kathryn), Milaneschi, Y. (Yuri), Tanaka, T. (Toshiko), Tranah, G.J. (Gregory), Völker, U. (Uwe), Yu, L. (Lei), Arnold, A.M. (Alice), Benjamin, E.J. (Emelia), Biffar, R. (Reiner), Buchman, A.S. (Aron), Boerwinkle, E.A. (Eric), Couper, D. (David), Jager, P.L. (Philip) de, Evans, D.A. (Denis), Harris, T.B. (Tamara), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Karasik, D. (David), Kiel, D.P. (Douglas), Kocher, T. (Thomas), Kuningas, M. (Maris), Launer, L.J. (Lenore), Lohman, K. (Kurt), Lutsey, P.L. (Pamela), Mackenbach, J.P. (Johan), Marciante, K. (Kristin), Psaty, B.M. (Bruce), Reiman, E.M. (Eric), Rotter, J.I. (Jerome), Seshadri, S. (Sudha), Shardell, M.D. (Michelle), Smith, A.V. (Albert Vernon), Tikka-Kleemola, P. (Päivi), Walston, J. (Jeremy), Zillikens, M.C. (Carola), Bandinelli, S. (Stefania), Baumeister, S.E. (Sebastian), Bennett, D.A. (David), Ferrucci, L. (Luigi), Gudnason, V. (Vilmundur), Kivimaki, M. (Mika), Liu, Y. (YongMei), Murabito, J. (Joanne), Newman, A.B. (Anne), Tiemeier, H.W. (Henning), Franceschini, N. (Nora), Walter, S. (Stefan), Atzmon, G. (Gil), Demerath, E.W. (Ellen), Garcia, M. (Melissa), Kaplan, R.C. (Robert), Kumari, M. (Meena), Lunetta, K.L. (Kathryn), Milaneschi, Y. (Yuri), Tanaka, T. (Toshiko), Tranah, G.J. (Gregory), Völker, U. (Uwe), Yu, L. (Lei), Arnold, A.M. (Alice), Benjamin, E.J. (Emelia), Biffar, R. (Reiner), Buchman, A.S. (Aron), Boerwinkle, E.A. (Eric), Couper, D. (David), Jager, P.L. (Philip) de, Evans, D.A. (Denis), Harris, T.B. (Tamara), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Karasik, D. (David), Kiel, D.P. (Douglas), Kocher, T. (Thomas), Kuningas, M. (Maris), Launer, L.J. (Lenore), Lohman, K. (Kurt), Lutsey, P.L. (Pamela), Mackenbach, J.P. (Johan), Marciante, K. (Kristin), Psaty, B.M. (Bruce), Reiman, E.M. (Eric), Rotter, J.I. (Jerome), Seshadri, S. (Sudha), Shardell, M.D. (Michelle), Smith, A.V. (Albert Vernon), Tikka-Kleemola, P. (Päivi), Walston, J. (Jeremy), Zillikens, M.C. (Carola), Bandinelli, S. (Stefania), Baumeister, S.E. (Sebastian), Bennett, D.A. (David), Ferrucci, L. (Luigi), Gudnason, V. (Vilmundur), Kivimaki, M. (Mika), Liu, Y. (YongMei), Murabito, J. (Joanne), Newman, A.B. (Anne), Tiemeier, H.W. (Henning), and Franceschini, N. (Nora)
Abstract: Human longevity and healthy aging show moderate heritability (20%-50%). We conducted a meta-analysis of genome-wide association studies from 9 studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium for 2 outcomes: (1) all-cause mortality, and (2) survival free of major disease or death. No single nucleotide polymorphism (SNP) was a genome-wide significant predictor of either outcome (p < 5 × 10-8). We found 14 independent SNPs that predicted risk of death, and 8 SNPs that predicted event-free survival (p < 10-5). These SNPs are in or near genes that are highly expressed in the brain (HECW2, HIP1, BIN2, GRIA1), genes involved in neural development and function (KCNQ4, LMO4, GRIA1, NETO1) and autophagy (ATG4C), and genes that are associated with risk of various diseases including cancer and Alzheimer's disease. In addition to considerable overlap between the traits, pathway and network analysis corroborated these findings. These findings indicate that variation in genes involved in neurological processes may be an important factor in regulating aging free of major disease and achieving longevity.
Published: 2011
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33 results on '"Yu, L. (Lei)"'

1. Inhibition of O-GlcNAc transferase activates type I interferon-dependent antitumor immunity by bridging cGAS-STING pathway

2. TRAF3IP3 negatively regulates cytosolic RNA induced anti-viral signaling by promoting TBK1 K48 ubiquitination

3. The Interactions Between Candida albicans and Mucosal Immunity

4. Ovarian cancer stem cells and macrophages reciprocally interact through the WNT pathway to promote pro-tumoral and malignant phenotypes in 3D engineered microenvironments

5. Long non-coding RNA implicated in the invasion and metastasis of head and neck cancer: possible function and mechanisms

6. SUSD2 suppresses CD8+ T cell antitumor immunity by targeting IL-2 receptor signaling

7. Fast and robust deconvolution of tumor infiltrating lymphocyte from expression profiles using least trimmed squares.

8. Anti-tumor immunity induced by ectopic expression of viral antigens is transient and limited by immune escape

9. Supplementary Figure 1-4 from Inhibition of ATM Increases Interferon Signaling and Sensitizes Pancreatic Cancer to Immune Checkpoint Blockade Therapy

10. Supplementary Tables 2-4 from Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine

11. Supplementary Figures 1-7 from Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine

12. Data from Inhibition of ATM Increases Interferon Signaling and Sensitizes Pancreatic Cancer to Immune Checkpoint Blockade Therapy

13. Data from Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine

14. Supplementary Figure Legends from Inhibition of ATM Increases Interferon Signaling and Sensitizes Pancreatic Cancer to Immune Checkpoint Blockade Therapy

15. Supplementary Table S1 from Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine

16. Supervised capacity preserving mapping: a clustering guided visualization method for scRNA-seq data

17. T cell receptor richness in peripheral blood increases after cetuximab therapy and correlates with therapeutic response

18. Combined Pik3ca-H1047R and loss-of-function Notch1 alleles decrease survival time in a 4-nitroquinoline N-oxide-driven head and neck squamous cell carcinoma model

19. The Interactions Between

20. Generation and Culture of Mouse Embryonic Fibroblasts

21. Associations of autozygosity with a broad range of human phenotypes

22. A genome-wide association study identifies genetic loci associated with specific lobar brain volumes

23. Associations of autozygosity with a broad range of human phenotypes

24. Correction: The complex genetics of gait speed: Genome-wide metaanalysis approach [Aging, (Albany NY), 9, 1, (2017), (209-246)]doi 10.18632/aging.101151

25. GWAS for executive function and processing speed suggests involvement of the CADM2 gene

26. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

27. Genome-wide studies of verbal declarative memory in nondemented older people: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium

28. Association of Alzheimer's disease GWAS loci with MRI markers of brain aging

29. Genetic diversity is a predictor of mortality in humans

30. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

31. GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

32. A genome-wide association study of depressive symptoms

33. A genome-wide association study of aging

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33 results on '"Yu, L. (Lei)"'

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