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1. Breakthrough SARS-CoV-2 infections among patients with cancer following two and three doses of COVID-19 mRNA vaccines: a retrospective observational study from the COVID-19 and Cancer Consortium

Author

Choueiri, Toni K., Labaki, Chris, Bakouny, Ziad, Hsu, Chih-Yuan, Schmidt, Andrew L., de Lima Lopes, Gilberto, Jr., Hwang, Clara, Singh, Sunny R.K., Jani, Chinmay, Weissmann, Lisa B., Griffiths, Elizabeth A., Halabi, Susan, Wu, Ulysses, Berg, Stephanie, O'Connor, Timothy E., Wise-Draper, Trisha M., Panagiotou, Orestis A., Klein, Elizabeth J., Joshi, Monika, Yared, Fares, Dutra, Miriam Santos, Gatson, Na Tosha N., Blau, Sibel, Singh, Harpreet, Nanchal, Rahul, McKay, Rana R., Nonato, Taylor K., Quinn, Ryann, Rubinstein, Samuel M., Puc, Matthew, Mavromatis, Blanche H., Vikas, Praveen, Faller, Bryan, Zaren, Howard A., Del Prete, Salvatore, Russell, Karen, Reuben, Daniel Y., Accordino, Melissa K., Friese, Christopher R., Mishra, Sanjay, Rivera, Donna R., Shyr, Yu, Farmakiotis, Dimitrios, and Warner, Jeremy L.

Published
2023
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2. Identification of rare variants involved in the risk of second cancer following radiotherapy and chemotherapy treatment of pediatric cancers

Author

Ducos, C., primary, Brice, F., additional, Rosselli, F., additional, Vu-Bezin, G., additional, Schwartz, B., additional, Allodji, R., additional, Marenne, G., additional, Ludwig, T., additional, Boland-Augé, A., additional, Blanché, H., additional, El-Fayech, C., additional, Rubino, C., additional, Diallo, I., additional, de Vathaire, F., additional, Benhamou, S., additional, and Haddy, N., additional

Published
2023
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3. Persistent symptoms after the first wave of COVID-19 in relation to SARS-CoV-2 serology and experience of acute symptoms: A nested survey in a population-based cohort.

Author

Robineau, O, Wiernik, E, Lemogne, C, de Lamballerie, X, Ninove, L, Blanché, H, Deleuze, J-F, Ribet, C, Kab, S, Goldberg, M, Severi, G, Touvier, M, Zins, M, Carrat, F, Robineau, O, Wiernik, E, Lemogne, C, de Lamballerie, X, Ninove, L, Blanché, H, Deleuze, J-F, Ribet, C, Kab, S, Goldberg, M, Severi, G, Touvier, M, Zins, M, and Carrat, F

Abstract

BACKGROUND: Many patients report persistent symptoms after COVID-19. Our aim was to determine whether some of these symptoms were more associated with past SARS-CoV-2 infection compared to other conditions. METHODS: This prospective survey was nested in CONSTANCES, a randomly selected French population-based cohort, started in 2012. All participants being followed-up by internet completed 2 questionnaires during the first wave of the pandemic focusing on the acute symptoms of their COVID-19-like illness. Serological tests for SARS-CoV-2 were then performed (May-Nov 2020). Between December 2020 and January 2021, participants completed a third questionnaire about symptoms that had lasted more than 2 months. Participants were classified into four groups according to both European Center for Diseases Control (ECDC) criteria for COVID-19 (ECDC+ or ECDC-) and serological SARS-CoV-2 test results (Sero+ or Sero-). To compare the risk of each persistent symptom among the groups, logistic regression models were adjusted for age, sex, educational level, comorbidities, and the number of acute symptoms declared during the first wave of the epidemic. A mediation analysis was performed to estimate the direct effect of the infection on persistent symptoms and its indirect effect via the initial clinical presentation. FINDINGS: The analysis was performed in 25,910 participants. There was a higher risk of persistent dysgeusia/anosmia, dyspnea and asthenia in the ECDC+/Sero+ group than in the ECDC+/Sero- group (OR: 6.83 [4.47-10.42], 1.69 [1.07-2.6] and 1.48 [1.05-2.07], respectively). Abdominal pain, sensory symptoms or sleep disorders were at lower risk in the ECDC+/Sero+ group than in the ECDC+/Sero- group (0.51 [0.24-0.96], 0.40 [0.16-0.85], and 0.69 [0.49-0.95], respectively). The mediation analysis revealed that the association of the serological test results with each symptom was mainly mediated by ECDC symptoms (proportion mediated range 50-107%). CONCLUSION: A greater risk of

Published
2022

4. Publisher Correction: Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population.

Author

Carrat, F, Villarroel, PMS, Lapidus, N, Fourié, T, Blanché, H, Dorival, C, Nicol, J, Deleuze, J-F, Robineau, O, SAPRIS-SERO Study Group, Touvier, M, Severi, G, Zins, M, de Lamballerie, X, Carrat, F, Villarroel, PMS, Lapidus, N, Fourié, T, Blanché, H, Dorival, C, Nicol, J, Deleuze, J-F, Robineau, O, SAPRIS-SERO Study Group, Touvier, M, Severi, G, Zins, M, and de Lamballerie, X

Published
2022

5. Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population.

Author

Carrat, F, Villarroel, PMS, Lapidus, N, Fourié, T, Blanché, H, Dorival, C, Nicol, J, Deleuze, J-F, Robineau, O, SAPRIS-SERO Study Group, Touvier, M, Severi, G, Zins, M, de Lamballerie, X, Carrat, F, Villarroel, PMS, Lapidus, N, Fourié, T, Blanché, H, Dorival, C, Nicol, J, Deleuze, J-F, Robineau, O, SAPRIS-SERO Study Group, Touvier, M, Severi, G, Zins, M, and de Lamballerie, X

Abstract

Assessment of the intensity, dynamics and determinants of the antibody response after SARS-CoV-2 infection or vaccination in the general population is critical to guide vaccination policies. This study characterized the anti-spike IgG titers in 13,971 participants included in a French multicohort population-based serological survey on COVID-19 between April and October 2020 and followed-up with serological testing between May and October 2021. Eight follow-up profiles were defined depending on SARS-CoV-2 infection (0, 1 or 2) and COVID-19 vaccination (0, 1, 2 or 3). The anti-spike titer was lower in adults with no vaccination even in case of infection or reinfection, while it was higher in adults with infection followed by vaccination. The anti-spike titer was negatively correlated with age in vaccinated but uninfected adults, whereas it was positively correlated with age in unvaccinated but infected adults. In adults with 2 vaccine injections and no infection, the vaccine protocol, age, gender, and time since the last vaccine injection were independently associated with the anti-spike titer. The decrease in anti-spike titer was much more rapid in vaccinated than in infected subjects. These results highlight the strong heterogeneity of the antibody response against SARS-CoV-2 in the general population depending on previous infection and vaccination.

Published
2022

6. Age, COVID-19-like symptoms and SARS-CoV-2 seropositivity profiles after the first wave of the pandemic in France.

Author

Carrat, F, Lapidus, N, Ninove, L, Blanché, H, Rahib, D, Saba Villarroel, PM, Touvier, M, Severi, G, Zins, M, Deleuze, J-F, de Lamballerie, X, SAPRIS-SERO study group, Carrat, F, Lapidus, N, Ninove, L, Blanché, H, Rahib, D, Saba Villarroel, PM, Touvier, M, Severi, G, Zins, M, Deleuze, J-F, de Lamballerie, X, and SAPRIS-SERO study group

Abstract

BACKGROUND: The interplay between age and symptoms intensity on antibody response to SARS-CoV-2 infection has not been studied in a general population setting. METHODS: We explored the serologic profile of anti-SARS-CoV-2 antibodies after the first wave of the pandemic, by assessing IgG against the spike protein (ELISA-S), IgG against the nucleocapsid protein (ELISA-NP) and neutralizing antibodies (SN) in 82,126 adults from a French population-based multi-cohort study. RESULTS: ELISA-S positivity was increased in 30- to 49-year-old adults (8.5%) compared to other age groups (5.6% in 20- to 29-year-olds, 2.8% in ≥ 50-year-olds). In the 3681 ELISA-S positive participants, ELISA-NP and SN positivity exhibited a U-shaped relationship with age, with a lower rate in 30- to 49-year-old adults, and was strongly associated with COVID-19-like symptoms. CONCLUSION: Our study confirms the independent role of age and symptoms on the serologic profile of anti-SARS-CoV-2 antibodies, but the non-linear relationship with age deserves further investigation.

Published
2022

7. 135P Real-time genotyping-based breast cancer risk assessment in MyPeBS, an international randomized trial in the general population comparing risk-stratified to standard breast cancer screening (BCS)

Author

Delaloge, S., primary, Giorgi Rossi, P., additional, Balleyguier, C., additional, Guindy, M., additional, Gilbert, F.J., additional, Burrion, J-B., additional, Roman, M., additional, de Montgolfier, S., additional, Giordano, L., additional, Drubay, D., additional, Evans, D.G., additional, Keatley, D., additional, Gauthier, E., additional, du Bois d'Aische, A., additional, Baron, C., additional, Boland, A., additional, Blanché, H., additional, Couch, D., additional, Deleuze, J-F., additional, and Michiels, S., additional

Published
2022
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8. Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project

Author

Skytthe, A., Valensin, S., Jeune, B., Cevenini, E., Balard, F., Beekman, M., Bezrukov, V., Blanche, H., Bolund, L., Broczek, K., Carru, C., Christensen, K., Christiansen, L., Collerton, J.C., Cotichini, R., de Craen, A.J.M., Dato, S., Davies, K., De Benedictis, G., Deiana, L., Flachsbart, F., Gampe, J., Gilbault, C., Gonos, E.S., Haimes, E., Hervonen, A., Hurme, M.A., Janiszewska, D., Jylhä, M., Kirkwood, T.B.L., Kristensen, P., Laiho, P., Leon, A., Marchisio, A., Masciulli, R., Nebel, A., Passarino, G., Pelicci, G., Peltonen, L., Perola, M., Poulain, M., Rea, I.M., Remacle, J., Robine, J.M., Schreiber, S., Scurti, M., Sevini, F., Sikora, E., Skouteri, A., Slagboom, P.E., Spazzafumo, L., Stazi, M.A., Toccaceli, V., Toussaint, O., Törnwall, O., Vaupel, J.W., Voutetakis, K., and Franceschi, C.

Published
2011
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30. Genome-wide association study indentifies variants at CLU and CR1 associated with Alzheimer’s disease

Author

Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, European Alzheimer's Disease Initiative Investigators, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P, FORTI, PAOLA, Lambert, J, Heath, S, Even, G, Campion, D, Sleegers, K, Hiltunen, M, Cambarros, O, Zelenika, D, Bullido, M, Tavernier, B, Letenneur, L, Bettens, K, Berr, C, Pasquier, F, Fiévet, N, Barbager Gateau, P, Engelborghs, S, De Deyn, P, Mateo, I, Franck, A, Helisalmi, S, Porcellini, E, Hanon, O, the European Alzheimer’s disease Initiative, I, de Pancorbo, M, Lendon, C, Dufouil, C, Jaillard, C, Leveillard, T, Alvarez, V, Bosco, P, Mancuso, M, Panza, F, Nacmias, B, Bossù, P, Piccardi, P, Annoni, G, Seripa, D, Galimberti, D, Hannequin, D, Licastro, F, Soininen, H, Ritchie, K, Blanché, H, Dartigues, J, Tzourio, C, Gut, I, Broeckhoven, C, Alpérovitch, A, Lathrop, M, Amouyel, P, Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, European Alzheimer's Disease Initiative Investigator, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P, Electronics and Informatics, Clinical sciences, Neurology, and Pathologic Biochemistry and Physiology

Subjects
Apolipoprotein E, SORL1, Genome-wide association study, Disease, Polymorphism, Single Nucleotide, White People, ABCA7, PICALM, Alzheimer Disease, Genetics, Humans, Genetic Predisposition to Disease, European Continental Ancestry Group/genetics, Alzheimer's disease, genome-wide association, APOE, APOJ, Medicine(all), Alzheimer Disease/genetics, biology, Phosphatidylinositol binding, Clusterin, Haplotypes, Receptors, Complement 3b, biology.protein, Human medicine, Clusterin/genetics, Receptors, Complement 3b/genetics, Genome-Wide Association Study
Abstract

The gene encoding apolipoprotein E (APOE) on chromosome 19 is the only confirmed susceptibility locus for late-onset Alzheimer's disease. To identify other risk loci, we conducted a large genome-wide association study of 2,032 individuals from France with Alzheimer's disease (cases) and 5,328 controls. Markers outside APOE with suggestive evidence of association (P 10 5) were examined in collections from Belgium, Finland, Italy and Spain totaling 3,978 Alzheimer's disease cases and 3,297 controls. Two loci gave replicated evidence of association: one within CLU (also called APOJ), encoding clusterin or apolipoprotein J, on chromosome 8 (rs11136000, OR = 0.86, 95% CI 0.81-0.90, P = 7.5 × 10 9 for combined data) and the other within CR1, encoding the complement component (3b/4b) receptor 1, on chromosome 1 (rs6656401, OR = 1.21, 95% CI 1.14-1.29, P = 3.7 × 10 9 for combined data). Previous biological studies support roles of CLU and CR1 in the clearance of Β amyloid (AΒ) peptide, the principal constituent of amyloid plaques, which are one of the major brain lesions of individuals with Alzheimer's disease. © 2009 Nature America, Inc. All rights reserved.

Published
2009

32. Breakthrough SARS-CoV-2 infections among patients with cancer following two and three doses of COVID-19 mRNA vaccines: a retrospective observational study from the COVID-19 and Cancer ConsortiumResearch in context

Author

Toni K. Choueiri, Chris Labaki, Ziad Bakouny, Chih-Yuan Hsu, Andrew L. Schmidt, Gilberto de Lima Lopes, Jr., Clara Hwang, Sunny R.K. Singh, Chinmay Jani, Lisa B. Weissmann, Elizabeth A. Griffiths, Susan Halabi, Ulysses Wu, Stephanie Berg, Timothy E. O'Connor, Trisha M. Wise-Draper, Orestis A. Panagiotou, Elizabeth J. Klein, Monika Joshi, Fares Yared, Miriam Santos Dutra, Na Tosha N. Gatson, Sibel Blau, Harpreet Singh, Rahul Nanchal, Rana R. McKay, Taylor K. Nonato, Ryann Quinn, Samuel M. Rubinstein, Matthew Puc, Blanche H. Mavromatis, Praveen Vikas, Bryan Faller, Howard A. Zaren, Salvatore Del Prete, Karen Russell, Daniel Y. Reuben, Melissa K. Accordino, Christopher R. Friese, Sanjay Mishra, Donna R. Rivera, Yu Shyr, Dimitrios Farmakiotis, and Jeremy L. Warner

Subjects
Covid-19, Vaccination, SARS-CoV-2, Cancer, Breakthrough infection, mRNA vaccine, Public aspects of medicine, RA1-1270
Abstract

Summary: Background: Breakthrough SARS-CoV-2 infections following vaccination against COVID-19 are of international concern. Patients with cancer have been observed to have worse outcomes associated with COVID-19 during the pandemic. We sought to evaluate the clinical characteristics and outcomes of patients with cancer who developed breakthrough SARS-CoV-2 infections after 2 or 3 doses of mRNA vaccines. Methods: We evaluated the clinical characteristics of patients with cancer who developed breakthrough infections using data from the multi-institutional COVID-19 and Cancer Consortium (CCC19; NCT04354701). Analysis was restricted to patients with laboratory-confirmed SARS-CoV-2 diagnosed in 2021 or 2022, to allow for a contemporary unvaccinated control population; potential differences were evaluated using a multivariable logistic regression model after inverse probability of treatment weighting to adjust for potential baseline confounding variables. Adjusted odds ratios (aOR) and 95% confidence intervals (CI) are reported. The primary endpoint was 30-day mortality, with key secondary endpoints of hospitalization and ICU and/or mechanical ventilation (ICU/MV). Findings: The analysis included 2486 patients, of which 564 and 385 had received 2 or 3 doses of an mRNA vaccine prior to infection, respectively. Hematologic malignancies and recent receipt of systemic anti-neoplastic therapy were more frequent among vaccinated patients. Vaccination was associated with improved outcomes: in the primary analysis, 2 doses (aOR: 0.62, 95% CI: 0.44–0.88) and 3 doses (aOR: 0.20, 95% CI: 0.11–0.36) were associated with decreased 30-day mortality. There were similar findings for the key secondary endpoints of ICU/MV (aOR: 0.60, 95% CI: 0.45–0.82 and 0.37, 95% CI: 0.24–0.58) and hospitalization (aOR: 0.60, 95% CI: 0.48–0.75 and 0.35, 95% CI: 0.26–0.46) for 2 and 3 doses, respectively. Importantly, Black patients had higher rates of hospitalization (aOR: 1.47, 95% CI: 1.12–1.92), and Hispanic patients presented with higher rates of ICU/MV (aOR: 1.61, 95% CI: 1.06–2.44). Interpretation: Vaccination against COVID-19, especially with additional doses, is a fundamental strategy in the prevention of adverse outcomes including death, among patients with cancer. Funding: This study was partly supported by grants from the National Cancer Institute grant number P30 CA068485 to C-YH, YS, SM, JLW; T32-CA236621 and P30-CA046592 to C.R.F; CTSA 2UL1TR001425-05A1 to TMW-D; ACS/FHI Real-World Data Impact Award, P50 MD017341-01, R21 CA242044-01A1, Susan G. Komen Leadership Grant Hunt to MKA. REDCap is developed and supported by Vanderbilt Institute for Clinical and Translational Research grant support (UL1 TR000445 from NCATS/NIH).

Published
2023
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33. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, L.G. (Lars), Igl, W. (Wilmar), Cooke Bailey, J.N. (Jessica N.), Grassmann, F. (Felix), Sengupta, S. (Sebanti), Bragg-Gresham, J.L. (Jennifer L.), Burdon, K.P. (Kathryn P.), Hebbring, S.J. (Scott J.), Wen, C. (Cindy), Gorski, M. (Mathias), Kim, I.K. (Ivana), Cho, D. (David), Zack, D. (Donald), Souied, E.H. (Eric), Scholl, H.P.N. (Hendrik), Bala, E. (Elisa), ELee, K. (Kristine), Hunter, D. (David), Sardell, R.J. (Rebecca J.), Mitchell, P. (Paul), Merriam, J.E. (Joanna), Cipriani, F. (Francesco), Hoffman, J.D. (Joshua D.), Schick, T. (Tina), Lechanteur, Y.T.E. (Yara T. E.), Guymer, R.H. (Robyn), Johnson, M.P. (Matthew), Jiang, Y., Stanton, C.M. (Chloe), Buitendijk, G.H.S. (Gabrielle), Zhan, X. (Xiaowei), Kwong, A.M. (Alan M.), Boleda, A. (Alexis), Brooks, M. (Matthew), Gieser, L. (Linn), Ratna Priya, R. (Rinki), Branham, K.E. (Kari), Foerster, J.R. (Johanna R.), Heckenlively, J.R. (John), Othman, M.I. (Mohammad), Vote, B.J. (Brendan J.), Liang, H.H. (Helena Hai), Souzeau, E. (Emmanuelle), McAllister, I.L. (Ian L.), Isaacs, T. (Timothy), Hall, J. (Janette), Lake, S. (Stewart), Mackey, D.A. (David), Constable, I.J. (Ian J.), Craig, J.E. (Jamie E.), Kitchner, T.E. (Terrie E.), Yang, Z. (Zhenglin), Su, Z. (Zhiguang), Luo, H. (Hongrong), Chen, D. (Daniel), Ouyang, H. (Hong), Flagg, K. (Ken), Lin, D. (Danni), Mao, G. (Guanping), Ferreyra, H.A. (Henry), Stark, K. (Klaus), Strachwitz, C. (Claudia) von, Wolf, A. (Armin), Brandl, C. (Caroline), Rudolph, G. (Guenther), Olden, M. (Matthias), Morrison, M.A. (Margaux), Morgan, D.J. (Denise), Schu, M. (Matthew), Ahn, J. (Jeeyun), Silvestri, G. (Giuliana), Tsironi, E.E. (Evangelia), Park, K.H. (Kyu Hyung), Farrer, L.A. (Lindsay), Orlin, A. (Anton), Brucker, A. (Alexander), Curcio, C.A. (Christine A.), Mohand-Sa'd, S. (Saddek), Sahel, J.-A. (José-Alain), Audo, I. (Isabelle), Benchaboune, M. (Mustapha), Cree, A.J. (Angela), Rennie, C.A. (Christina A.), Goverdhan, S.V. (Srinivas V.), Grunin, M. (Michelle), Hagbi-Levi, S. (Shira), Campochiaro, B. (Betsy), Katsanis, N. (Nicholas), Holz, F.G. (Frank), Blond, F. (Frédéric), Blanché, H. (Hél'ne), Deleuze, J.-F. (Jean-Fran'ois), Igo Jr., R.P. (Robert), Truitt, B.J. (Barbara), Peachey, N.S. (Neal ), Meuer, S.M. (Stacy), Myers, C.E. (Chelsea), Moore, E.L. (Emily L.), Klein, R. (Ronald), Hauser, M.A. (Michael), Postel, E.A. (Eric), Courtenay, M.D. (Monique D.), Schwartz, S.M. (Stephen), Kovach, J.L. (Jaclyn), Scott, W.K. (William), Liew, G. (Gerald), Tan, A.G. (Ava G.), Gopinath, B. (Bamini), Smith, T. (Tim), Khan, J.C. (Jane), Shahid, M. (Mohammad), Moore, A.T. (Anthony), McGrath, J.A. (J Allie), Laux, R. (Reneé), Brantley, M.A. (Milam), Agarwal, A. (Anita), Ersoy, L. (Lebriz), Caramoy, A. (Albert), Langmann, T. (Thomas), Saksens, N.T.M. (Nicole T.), Jong, E.K. (Eiko Kde), Hoyng, C.B. (Carel), Cain, M.S. (Melinda), Richardson, A.J. (Andrea), Martin, T.M. (Tammy M.), Blangero, J. (John), Weeks, D.E. (Daniel), Dhillon, B. (Bal), Duijn, C.M. (Cornelia) van, Doheny, K.F. (Kimberly), Romm, J. (Jane), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Gorin, M.B. (Michael B.), Klein, M.L. (Michael), Baird, P.N. (Paul), Hollander, A.I. (Anneke), Fauser, S. (Sascha), WYates, J.R. (John R.), Allikmets, R. (Rando), Wang, J.J. (Jie Jin), Schaumberg, D.A. (Debra), Klein, B.E.K. (Barbara), Hagstrom, S.A. (Stephanie), Chowers, Y. (Yehuda), Lotery, A.J. (Andrew), Léveillard, T. (Thierry), Zhang, K. (Kang), Brilliant, M.H. (Murray H.), Hewit, A.W. (Alex), Swaroop, A. (Anand), Chew, E.Y. (Emily Y.), Pericak-Vance, M.A. (Margaret), DeAngelis, M.M. (Margaret), Stambolian, D. (Dwight), Haines, J.L. (Jonathan), Iyengar, S.K. (Sudha), Weber, B.H.F. (Bernhard), Abecasis, G.R. (Gonçalo), Heid, I.M. (Iris), Li, M. (Mingyao), Fritsche, L.G. (Lars), Igl, W. (Wilmar), Cooke Bailey, J.N. (Jessica N.), Grassmann, F. (Felix), Sengupta, S. (Sebanti), Bragg-Gresham, J.L. (Jennifer L.), Burdon, K.P. (Kathryn P.), Hebbring, S.J. (Scott J.), Wen, C. (Cindy), Gorski, M. (Mathias), Kim, I.K. (Ivana), Cho, D. (David), Zack, D. (Donald), Souied, E.H. (Eric), Scholl, H.P.N. (Hendrik), Bala, E. (Elisa), ELee, K. (Kristine), Hunter, D. (David), Sardell, R.J. (Rebecca J.), Mitchell, P. (Paul), Merriam, J.E. (Joanna), Cipriani, F. (Francesco), Hoffman, J.D. (Joshua D.), Schick, T. (Tina), Lechanteur, Y.T.E. (Yara T. E.), Guymer, R.H. (Robyn), Johnson, M.P. (Matthew), Jiang, Y., Stanton, C.M. (Chloe), Buitendijk, G.H.S. (Gabrielle), Zhan, X. (Xiaowei), Kwong, A.M. (Alan M.), Boleda, A. (Alexis), Brooks, M. (Matthew), Gieser, L. (Linn), Ratna Priya, R. (Rinki), Branham, K.E. (Kari), Foerster, J.R. (Johanna R.), Heckenlively, J.R. (John), Othman, M.I. (Mohammad), Vote, B.J. (Brendan J.), Liang, H.H. (Helena Hai), Souzeau, E. (Emmanuelle), McAllister, I.L. (Ian L.), Isaacs, T. (Timothy), Hall, J. (Janette), Lake, S. (Stewart), Mackey, D.A. (David), Constable, I.J. (Ian J.), Craig, J.E. (Jamie E.), Kitchner, T.E. (Terrie E.), Yang, Z. (Zhenglin), Su, Z. (Zhiguang), Luo, H. (Hongrong), Chen, D. (Daniel), Ouyang, H. (Hong), Flagg, K. (Ken), Lin, D. (Danni), Mao, G. (Guanping), Ferreyra, H.A. (Henry), Stark, K. (Klaus), Strachwitz, C. (Claudia) von, Wolf, A. (Armin), Brandl, C. (Caroline), Rudolph, G. (Guenther), Olden, M. (Matthias), Morrison, M.A. (Margaux), Morgan, D.J. (Denise), Schu, M. (Matthew), Ahn, J. (Jeeyun), Silvestri, G. (Giuliana), Tsironi, E.E. (Evangelia), Park, K.H. (Kyu Hyung), Farrer, L.A. (Lindsay), Orlin, A. (Anton), Brucker, A. (Alexander), Curcio, C.A. (Christine A.), Mohand-Sa'd, S. (Saddek), Sahel, J.-A. (José-Alain), Audo, I. (Isabelle), Benchaboune, M. (Mustapha), Cree, A.J. (Angela), Rennie, C.A. (Christina A.), Goverdhan, S.V. (Srinivas V.), Grunin, M. (Michelle), Hagbi-Levi, S. (Shira), Campochiaro, B. (Betsy), Katsanis, N. (Nicholas), Holz, F.G. (Frank), Blond, F. (Frédéric), Blanché, H. (Hél'ne), Deleuze, J.-F. (Jean-Fran'ois), Igo Jr., R.P. (Robert), Truitt, B.J. (Barbara), Peachey, N.S. (Neal ), Meuer, S.M. (Stacy), Myers, C.E. (Chelsea), Moore, E.L. (Emily L.), Klein, R. (Ronald), Hauser, M.A. (Michael), Postel, E.A. (Eric), Courtenay, M.D. (Monique D.), Schwartz, S.M. (Stephen), Kovach, J.L. (Jaclyn), Scott, W.K. (William), Liew, G. (Gerald), Tan, A.G. (Ava G.), Gopinath, B. (Bamini), Smith, T. (Tim), Khan, J.C. (Jane), Shahid, M. (Mohammad), Moore, A.T. (Anthony), McGrath, J.A. (J Allie), Laux, R. (Reneé), Brantley, M.A. (Milam), Agarwal, A. (Anita), Ersoy, L. (Lebriz), Caramoy, A. (Albert), Langmann, T. (Thomas), Saksens, N.T.M. (Nicole T.), Jong, E.K. (Eiko Kde), Hoyng, C.B. (Carel), Cain, M.S. (Melinda), Richardson, A.J. (Andrea), Martin, T.M. (Tammy M.), Blangero, J. (John), Weeks, D.E. (Daniel), Dhillon, B. (Bal), Duijn, C.M. (Cornelia) van, Doheny, K.F. (Kimberly), Romm, J. (Jane), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Gorin, M.B. (Michael B.), Klein, M.L. (Michael), Baird, P.N. (Paul), Hollander, A.I. (Anneke), Fauser, S. (Sascha), WYates, J.R. (John R.), Allikmets, R. (Rando), Wang, J.J. (Jie Jin), Schaumberg, D.A. (Debra), Klein, B.E.K. (Barbara), Hagstrom, S.A. (Stephanie), Chowers, Y. (Yehuda), Lotery, A.J. (Andrew), Léveillard, T. (Thierry), Zhang, K. (Kang), Brilliant, M.H. (Murray H.), Hewit, A.W. (Alex), Swaroop, A. (Anand), Chew, E.Y. (Emily Y.), Pericak-Vance, M.A. (Margaret), DeAngelis, M.M. (Margaret), Stambolian, D. (Dwight), Haines, J.L. (Jonathan), Iyengar, S.K. (Sudha), Weber, B.H.F. (Bernhard), Abecasis, G.R. (Gonçalo), Heid, I.M. (Iris), and Li, M. (Mingyao)

Abstract

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10 -8) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10 -10). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.

Published
2016
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34. A genome-wide association study of upperaerodigestive tract cancers conducted within the INHANCE consortium

Author

McKay JD, Truong T, Gaborieau V, Chabrier A, Chuang SC, Byrnes G, Zaridze D, Shangina O, Szeszenia Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Holcatova I, Janout V, Foretova L, Lagiou P, Trichopoulos D, Benhamou S, Bouchardy C, Ahrens W, Merletti F, Richiardi L, Talamini R, Barzan L, Kjaerheim K, Macfarlane GJ, Macfarlane TV, Simonato L, Canova C, Agudo A, Castellsagué X, Lowry R, Conway DI, McKinney PA, Healy CM, Toner ME, Znaor A, Curado MP, Koifman S, Menezes A, Wünsch Filho V, Neto JE, Garrote LF, Boccia S, Cadoni G, Arzani D, Olshan AF, Weissler MC, Funkhouser WK, Luo J, Lubiński J, Trubicka J, Lener M, Oszutowska D, Schwartz SM, Chen C, Fish S, Doody DR, Muscat JE, Lazarus P, Gallagher CJ, Chang SC, Zhang ZF, Wei Q, Sturgis EM, Wang LE, Franceschi S, Herrero R, Kelsey KT, McClean MD, Marsit CJ, Nelson HH, Romkes M, Buch S, Nukui T, Zhong S, Lacko M, Manni JJ, Peters WH, Hung RJ, McLaughlin J, Vatten L, Njølstad I, Goodman GE, Field JK, Liloglou T, Vineis P, Clavel Chapelon F, Palli D, Tumino R, Krogh V, González CA, Quirós JR, Martínez C, Navarro C, Ardanaz E, Larrañaga N, Khaw KT, Key T, Bueno de Mesquita HB, Peeters PH, Trichopoulou A, Linseisen J, Boeing H, Hallmans G, Overvad K, Tjønneland A, Kumle M, Riboli E, Välk K, Vooder T, Metspalu A, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Blanché H, Gut IG, Galan P, Heath S, Hashibe M, Hayes RB, Boffetta P, Lathrop M, Brennan P., PANICO, SALVATORE, Mckay, Jd, Truong, T, Gaborieau, V, Chabrier, A, Chuang, Sc, Byrnes, G, Zaridze, D, Shangina, O, Szeszenia Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Bucur, A, Bencko, V, Holcatova, I, Janout, V, Foretova, L, Lagiou, P, Trichopoulos, D, Benhamou, S, Bouchardy, C, Ahrens, W, Merletti, F, Richiardi, L, Talamini, R, Barzan, L, Kjaerheim, K, Macfarlane, Gj, Macfarlane, Tv, Simonato, L, Canova, C, Agudo, A, Castellsagué, X, Lowry, R, Conway, Di, Mckinney, Pa, Healy, Cm, Toner, Me, Znaor, A, Curado, Mp, Koifman, S, Menezes, A, Wünsch Filho, V, Neto, Je, Garrote, Lf, Boccia, S, Cadoni, G, Arzani, D, Olshan, Af, Weissler, Mc, Funkhouser, Wk, Luo, J, Lubiński, J, Trubicka, J, Lener, M, Oszutowska, D, Schwartz, Sm, Chen, C, Fish, S, Doody, Dr, Muscat, Je, Lazarus, P, Gallagher, Cj, Chang, Sc, Zhang, Zf, Wei, Q, Sturgis, Em, Wang, Le, Franceschi, S, Herrero, R, Kelsey, Kt, Mcclean, Md, Marsit, Cj, Nelson, Hh, Romkes, M, Buch, S, Nukui, T, Zhong, S, Lacko, M, Manni, Jj, Peters, Wh, Hung, Rj, Mclaughlin, J, Vatten, L, Njølstad, I, Goodman, Ge, Field, Jk, Liloglou, T, Vineis, P, Clavel Chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, Salvatore, González, Ca, Quirós, Jr, Martínez, C, Navarro, C, Ardanaz, E, Larrañaga, N, Khaw, Kt, Key, T, Bueno de Mesquita, Hb, Peeters, Ph, Trichopoulou, A, Linseisen, J, Boeing, H, Hallmans, G, Overvad, K, Tjønneland, A, Kumle, M, Riboli, E, Välk, K, Vooder, T, Metspalu, A, Zelenika, D, Boland, A, Delepine, M, Foglio, M, Lechner, D, Blanché, H, Gut, Ig, Galan, P, Heath, S, Hashibe, M, Hayes, Rb, Boffetta, P, Lathrop, M, and Brennan, P.

Published
2011

36. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

Author

Horwitz, M.S., McKay, J.D., Truong, T., Gaborieau, V., Chabrier, A., Chuang, S.-C., Byrnes, G., Zaridze, D., Shangina, O., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., Fabianova, E., Bucur, A., Bencko, V., Holcatova, I., Janout, V., Foretova, L., Lagiou, P., Trichopoulos, D., Benhamou, S., Bouchardy, C., Ahrens, W., Merletti, F., Richiardi, L., Talamini, R., Barzan, L., Kjaerheim, K., Macfarlane, G.J., Macfarlane, T.V., Simonato, L., Canova, C., Agudo, A., Castellsagué, X., Lowry, R., Conway, D.I., McKinney, P.A., Healy, C.M., Toner, M.E., Znaor, A., Curado, M.P., Koifman, S., Menezes, A., Wünsch-Filho, V., Neto, J.E., Garrote, L.F., Boccia, S., Cadoni, G., Arzani, D., Olshan, A.F., Weissler, M.C., Funkhouser, W.K., Luo, J., Lubiński, J., Trubicka, J., Lener, M., Oszutowska, D., Schwartz, S.M., Chen, C., Fish, S., Doody, D.R., Muscat, J.E., Lazarus, P., Gallagher, C.J., Chang, S.C., Zhang, Z.F., Wei, Q., Sturgis, E.M., Wang, L.E., Franceschi, S., Herrero, R., Kelsey, K.T., McClean, M.D., Marsit, C.J., Nelson, H.H., Romkes, M., Buch, S., Nukui, T., Zhong, S., Lacko, M., Manni, J.J., Peters, W.H.M., Hung, R.J., McLaughlin, J., Vatten, L., Njølstad, I., Goodman, G.E., Field, J.K., Liloglou, T., Vineis, P., Clavel-Chapelon, F., Palli, D., Tumino, R., Krogh, V., Panico, S., González, C.A., Quirós, J.R., Martínez, C., Navarro, C., Ardanaz, E., Larrañaga, N., Khaw, K.T., Key, T., Bueno-de-Mesquita, H. B., Peeters, P.H.M., Trichopoulou, A., Linseisen, J., Boeing, H., Hallmans, G., Overvad, K., Tjønneland, A., Kumle, M., Riboli, E., Välk, K., Vooder, T., Metspalu, A., Zelenika, D., Boland, A., Delepine, M., Foglio, M., Lechner, D., Blanché, H., Gut, I.G., Galan, P., Heath, S., Hashibe, M., Hayes, R.B., Boffetta, P., Lathrop, M., and Brennan, P.

Abstract

Genome-wide association studies (GWAS) have been successful in identifying common genetic variation involved in susceptibility to etiologically complex disease. We conducted a GWAS to identify common genetic variation involved in susceptibility to upper aero-digestive tract (UADT) cancers. Genome-wide genotyping was carried out using the Illumina HumanHap300 beadchips in 2,091 UADT cancer cases and 3,513 controls from two large European multi-centre UADT cancer studies, as well as 4,821 generic controls. The 19 top-ranked variants were investigated further in an additional 6,514 UADT cancer cases and 7,892 controls of European descent from an additional 13 UADT cancer studies participating in the INHANCE consortium. Five common variants presented evidence for significant association in the combined analysis (p≤5×10−7). Two novel variants were identified, a 4q21 variant (rs1494961, p = 1×10−8) located near DNA repair related genes HEL308 and FAM175A (or Abraxas) and a 12q24 variant (rs4767364, p = 2×10−8) located in an extended linkage disequilibrium region that contains multiple genes including the aldehyde dehydrogenase 2 (ALDH2) gene. Three remaining variants are located in the ADH gene cluster and were identified previously in a candidate gene study involving some of these samples. The association between these three variants and UADT cancers was independently replicated in 5,092 UADT cancer cases and 6,794 controls non-overlapping samples presented here (rs1573496-ADH7, p = 5×10−8; rs1229984-ADH1B, p = 7×10−9; and rs698-ADH1C, p = 0.02). These results implicate two variants at 4q21 and 12q24 and further highlight three ADH variants in UADT cancer susceptibility.

Published
2011

37. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

Author

Lambert, Jc, Heath, S, Even, G, Campion, D, Sleegers, K, Hiltunen, M, Combarros, O, Zelenika, D, Bullido, Mj, Tavernier, B, Letenneur, L, Bettens, K, Berr, C, Pasquier, F, Fiévet, N, BARBERGER GATEAU, P, Engelborghs, S, DE DEYN, P, Mateo, I, Franck, A, Helisalmi, S, Porcellini, E, Hanon, O, Siciliano, Gabriele, DE PANCORBO MM, Lendon, C, Dufouil, C, Jaillard, C, Leveillard, T, Alvarez, V, Bosco, P, Mancuso, Michelangelo, Panza, F, Nacmias, B, Bossù, P, Piccardi, P, Annoni, G, Seripa, D, Galimberti, D, Hannequin, D, Licastro, F, Soininen, H, Ritchie, K, Blanché, H, Dartigues, Jf, Tzourio, C, Gut, I, VAN BROECKHOVEN, C, Alpérovitch, A, Lathrop, M, and Amouyel, P.

Published
2009

49. An exploration of in-service teachers’ understanding of teaching mathematics in Grade R classrooms: A case study of Grade R in Lesotho University of KwaZulu-Natal, South Africa

Author

Mamasiphole Setoromo and Blanche Hadebe-Ndlovu

Subjects
classroom, grade r, in-service teachers, mathematics, teaching, learners, Special aspects of education, LC8-6691, Theory and practice of education, LB5-3640
Abstract

Background:Research has indicated that young learners are capable of learning mathematics because they are born with an innate core of mathematics knowledge. Teachers of young learners are, therefore, expected to offer mathematical curriculum that exposes learners to a deep and explicit knowledge of high mathematics. Aim: The study aimed at Grade R in-service teachers’ understanding of teaching mathematics in their classrooms. Setting: The study sampled five in-service Grade R teachers from four districts in Lesotho, while they were enrolled in an in-service programme at a college of Education. Methods: This is a qualitative approach, and a case study design was employed. Data sources included teachers’ interviews, classroom observations and document analysis for instance, the teachers’ files, lesson plans for Grade R curriculum for mathematics and course outline of mathematics offered to in-service teachers during their training in the Lesotho College of Education (LCE). Which focussed on four domains of knowledge, namely, common content knowledge, special content knowledge, knowledge of content and students, and knowledge of content and teaching. Results: The findings revealed that the in-service teachers in the LCE had insufficient understanding of the teaching of mathematics, which in turn had a negative influence on the teaching of mathematics in Grade R classes. Conclusion: Despite the Lesotho government’s commitment to improving the learning of mathematics at the Grade R level. Teachers’ difficulties raise concerns about the effectiveness of their teaching of mathematics.

Published
2020
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