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6. Follicular lymphoma-protective HLA class II variants correlate with increased HLA-DQB1 protein expression

Author

Sillé, FCM, Conde, L, Zhang, J, Akers, NK, Sanchez, S, Maltbaek, J, Riby, JE, Smith, MT, and Skibola, CF

Subjects
Cancer, Rare Diseases, Human Genome, Lymphoma, Genetics, Biotechnology, Hematology, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Cells, Cultured, Dendritic Cells, Gene Frequency, Genetic Predisposition to Disease, HLA-DQ beta-Chains, Haplotypes, Humans, Linkage Disequilibrium, Lipopolysaccharides, Lymphocyte Activation, Lymphoma, Follicular, Polymorphism, Single Nucleotide, Quantitative Trait Loci, follicular lymphoma, human leukocyte antigen, gene expression, protein expression, Immunology
Abstract

Multiple follicular lymphoma (FL) susceptibility single-nucleotide polymorphisms in the human leukocyte antigen (HLA) class I and II regions have been identified, including rs6457327, rs3117222, rs2647012, rs10484561, rs9268853 and rs2621416. Here we validated previous expression quantitative trait loci results with real-time reverse transcription quantitative PCR and investigated protein expression in B-lymphoblastoid cell lines and primary dendritic cells using flow cytometry, cell-based enzyme-linked immunosorbent assay and western blotting. We confirmed that FL-protective rs2647012-linked variants, in high linkage disequilibrium with the extended haplotype DRB1*15:01-DQA1*01:02-DQB1*06:02, correlate with increased HLA-DQB1 expression. This association remained significant at the protein level and was reproducible across different cell types. We also found that differences in HLA-DQB1 expression were not related to changes in activation markers or class II, major histocompatibility complex, transactivator expression, suggesting the role of an alternative regulatory mechanism. However, functional analysis using RegulomeDB did not reveal any relevant regulatory candidates. Future studies should focus on the clinical relevance of increased HLA-DQB1 protein expression facilitating tumor cell removal through increased immune surveillance.

Published
2014

11. Physics of the high specific impulse alternative low power hybrid ion engine (alphie): Direct thrust measurements and plasma plume kinetics.

Author

Conde, L., Maldonado, P. E., Damba, J., Gonzalez, J., Domenech-Garret, J. L., Donoso, J. M., and Castillo, M. A.

Subjects
*HYBRID power, *PHYSICS, *ELECTRON distribution, *PLASMA flow, *THRUST, *PLUMES (Fluid dynamics)
Abstract

The Alternative Low Power Ion Engine (alphie) is a high specific impulse plasma thruster different from conventional gridded ion engines (GIEs). It uses only one external cathode and ions and electrons flow through the open spaces of its two grids, whereas only ions are transported through the GIE ion optics. Ionizing electrons from the cathode move inward to the alphie ionization chamber and ions, which are neutralized by electrons from the same cathode, exit along the opposite direction. These currents together with the voltages applied to the grids produce a self-consistent electric field that accelerates the charges. The one-dimensional ion velocity distribution and the electron energy spectra in the collisionless alphie plasma plume are studied along its axial axis of symmetry. The thruster produces a mesothermal plasma flow with a non-monotone plasma potential profile along the axial direction. The ion populations observed are of those accelerated by the self-consistent electric field and a low velocity group that results from the charge exchange collisions in the thruster. Both populations remain essentially unaltered in the plasma flow. Conversely, the two electron groups observed merge along the axial direction of the plume following the changes in the plasma potential. The temperatures of ion populations are high by the neutral gas heating inside the thruster by high-energy ionizing electrons. The direct measurement of thrusts of 0.8–3.5 mN for argon gives 13 900–20 000 s specific impulses. These high values might be explained by the additional contribution to the thrust by the remaining non-ionized hot neutral gas effusion through the apertures of grids. [ABSTRACT FROM AUTHOR]

Published
2022
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13. A direct test of the diathesis–stress model for depression

Author

Colodro-Conde, L, Couvy-Duchesne, B, Zhu, G, Coventry, W L, Byrne, E M, Gordon, S, Wright, M J, Montgomery, G W, Madden, P A F, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Ripke, S, Eaves, L J, Heath, A C, Wray, N R, Medland, S E, and Martin, N G

Published
2018
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16. Chemotherapy induces canalization of cell state in childhood B-cell precursor acute lymphoblastic leukemia

Author

Turati, V, Guerra-Assuncao, J, Potter, N, Gupta, R, Ecker, S, Daneviciute, A, Tarabichi, M, Webster, A, Ding, C, May, G, James, C, Brown, J, Conde, L, Russell, L, Ancliff, P, Inglott, S, Cazzaniga, G, Biondi, A, Hall, G, Lynch, M, Hubank, M, Macaulay, I, Beck, S, Van Loo, P, Jacobsen, S, Greaves, M, Herrero, J, Enver, T, Turati V. A., Guerra-Assuncao J. A., Potter N. E., Gupta R., Ecker S., Daneviciute A., Tarabichi M., Webster A. P., Ding C., May G., James C., Brown J., Conde L., Russell L. J., Ancliff P., Inglott S., Cazzaniga G., Biondi A., Hall G. W., Lynch M., Hubank M., Macaulay I., Beck S., Van Loo P., Jacobsen S. E., Greaves M., Herrero J., Enver T., Turati, V, Guerra-Assuncao, J, Potter, N, Gupta, R, Ecker, S, Daneviciute, A, Tarabichi, M, Webster, A, Ding, C, May, G, James, C, Brown, J, Conde, L, Russell, L, Ancliff, P, Inglott, S, Cazzaniga, G, Biondi, A, Hall, G, Lynch, M, Hubank, M, Macaulay, I, Beck, S, Van Loo, P, Jacobsen, S, Greaves, M, Herrero, J, Enver, T, Turati V. A., Guerra-Assuncao J. A., Potter N. E., Gupta R., Ecker S., Daneviciute A., Tarabichi M., Webster A. P., Ding C., May G., James C., Brown J., Conde L., Russell L. J., Ancliff P., Inglott S., Cazzaniga G., Biondi A., Hall G. W., Lynch M., Hubank M., Macaulay I., Beck S., Van Loo P., Jacobsen S. E., Greaves M., Herrero J., and Enver T.

Abstract

Comparison of intratumor genetic heterogeneity in cancer at diagnosis and relapse suggests that chemotherapy induces bottleneck selection of subclonal genotypes. However, evolutionary events subsequent to chemotherapy could also explain changes in clonal dominance seen at relapse. We therefore investigated the mechanisms of selection in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) during induction chemotherapy where maximal cytoreduction occurs. To distinguish stochastic versus deterministic events, individual leukemias were transplanted into multiple xenografts and chemotherapy administered. Analyses of the immediate post-treatment leukemic residuum at single-cell resolution revealed that chemotherapy has little impact on genetic heterogeneity. Rather, it acts on extensive, previously unappreciated, transcriptional and epigenetic heterogeneity in BCP-ALL, dramatically reducing the spectrum of cell states represented, leaving a genetically polyclonal but phenotypically uniform population, with hallmark signatures relating to developmental stage, cell cycle and metabolism. Hence, canalization of the cell state accounts for a significant component of bottleneck selection during induction chemotherapy.

Published
2021

17. Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer

Author

Besson, C., Moore, A., Vajdic, C.M., de Sanjose, S., Camp, N.J., Smedby, K.E., Shanafelt, T.D., Morton, L.M., Brewer, J.D., Zablotska, L., Chung, C.C., Teras, L.R., Kleinstern, G., Monnereau, A., Kane, E., Benavente, Y., Purdue, M.P., Birmann, B.M., Link, B.K., Vermeulen, R.C.H., Spinelli, J.J., Albanes, D., Arslan, A.A., Miligi, L., Molina, T.J., Skibola, C.F., Cozen, W., Staines, A., Caporaso, N.E., Giles, G.G., Southey, M.C., Milne, R.L., Tinker, L.F., Severson, R.K., Melbye, M., Adami, H.-O., Glimelius, B., Bracci, P.M., Conde, L., Glenn, M., Curtin, K., Lan, Q., Zheng, T., Weinstein, S., Brooks-Wilson, A.R., Diver, W.R., Clavel, J., Vineis, P., Weiderpass, E., Becker, N., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., Weinberg, J.B., Sanna, S., Gambelunghe, A., Jackson, R.D., Hjalgrim, H., North, K.E., McKay, J., Offit, K., Vijai, J., Nieters, A., Engels, E.A., Chanock, S.J., Rothman, N., Cerhan, J.R., Slager, S.L., Han, J., Berndt, S.I., IRAS OH Epidemiology Chemical Agents, and dIRAS RA-2

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, Skin Neoplasms, Epidemiology, Chronic lymphocytic leukemia, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Polygenic risk score, immune system diseases, Risk Factors, Polymorphism (computer science), hemic and lymphatic diseases, Internal medicine, Pleiotropism, Genetics, medicine, Genetic predisposition, Humans, Basal cell carcinoma, neoplasms, Pleiotropy, business.industry, General Medicine, Odds ratio, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, NMSC, 030104 developmental biology, Carcinoma, Basal Cell, 030220 oncology & carcinogenesis, Carcinoma, Squamous Cell, Skin cancer, business, CLL
Abstract

Background Epidemiological studies have demonstrated a positive association between chronic lymphocytic leukaemia (CLL) and non-melanoma skin cancer (NMSC). We hypothesized that shared genetic risk factors between CLL and NMSC could contribute to the association observed between these diseases. Methods We examined the association between (i) established NMSC susceptibility loci and CLL risk in a meta-analysis including 3100 CLL cases and 7667 controls and (ii) established CLL loci and NMSC risk in a study of 4242 basal cell carcinoma (BCC) cases, 825 squamous cell carcinoma (SCC) cases and 12802 controls. Polygenic risk scores (PRS) for CLL, BCC and SCC were constructed using established loci. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Results Higher CLL-PRS was associated with increased BCC risk (OR4th-quartile-vs-1st-quartile = 1.13, 95% CI: 1.02–1.24, Ptrend = 0.009), even after removing the shared 6p25.3 locus. No association was observed with BCC-PRS and CLL risk (Ptrend = 0.68). These findings support a contributory role for CLL in BCC risk, but not for BCC in CLL risk. Increased CLL risk was observed with higher SCC-PRS (OR4th-quartile-vs-1st-quartile = 1.22, 95% CI: 1.08–1.38, Ptrend = 1.36 × 10–5), which was driven by shared genetic susceptibility at the 6p25.3 locus. Conclusion These findings highlight the role of pleiotropy regarding the pathogenesis of CLL and NMSC and shows that a single pleiotropic locus, 6p25.3, drives the observed association between genetic susceptibility to SCC and increased CLL risk. The study also provides evidence that genetic susceptibility for CLL increases BCC risk.

Published
2021

21. Ten years of enhancing neuro-imaging genetics through meta-analysis: An overview from the ENIGMA Genetics Working Group

Author

Medland, S.E., Grasby, K.L., Jahanshad, N., Painter, J.N., Colodro-Conde, L., Bralten, J.B., Hibar, D.P., Lind, P.A., Pizzagalli, F., Thomopoulos, S.I., Stein, J.L., Franke, B., Martin, N.G., Thompson, P.M., Medland, S.E., Grasby, K.L., Jahanshad, N., Painter, J.N., Colodro-Conde, L., Bralten, J.B., Hibar, D.P., Lind, P.A., Pizzagalli, F., Thomopoulos, S.I., Stein, J.L., Franke, B., Martin, N.G., and Thompson, P.M.

Abstract

Contains fulltext : 248938.pdf (Publisher’s version ) (Open Access), Here we review the motivation for creating the enhancing neuroimaging genetics through meta-analysis (ENIGMA) Consortium and the genetic analyses undertaken by the consortium so far. We discuss the methodological challenges, findings, and future directions of the genetics working group. A major goal of the working group is tackling the reproducibility crisis affecting "candidate gene" and genome-wide association analyses in neuroimaging. To address this, we developed harmonized analytic methods, and support their use in coordinated analyses across sites worldwide, which also makes it possible to understand heterogeneity in results across sites. These efforts have resulted in the identification of hundreds of common genomic loci robustly associated with brain structure. We have found both pleiotropic and specific genetic effects associated with brain structures, as well as genetic correlations with psychiatric and neurological diseases.

Published
2022

22. Uncovering the genetic architecture of broad antisocial behavior through a genome-wide association study meta-analysis

Author

Tielbeek, J.J., Uffelmann, E., Williams, B.S., Colodro-Conde, L., Gagnon, É., Mallard, T.T., Levitt, B.E., Jansen, P.R., Johansson, A, Sallis, H.M., Pistis, G., Saunders, G.R.B., Allegrini, A.G., Rimfeld, K., Konte, B., Klein, M., Hartmann, A.M., Salvatore, J.E., Nolte, I.M., Demontis, D., Malmberg, A.L.K., Burt, S.A., Savage, J.E., Sugden, K., Poulton, R., Harris, K.M., Vrieze, S., McGue, M., Iacono, W.G., Roth Mota, N., Mill, J., Viana, J.F., Mitchell, B.L., Morosoli, J.J., Andlauer, T.F.M., Ouellet-Morin, I., Tremblay, R.E., Côté, S.M., Gouin, J.-P., Brendgen, M.R., Dionne, G., Vitaro, F., Lupton, M.K., Martin, N.G., Porjesz, B., Hesselbrock, V., Foroud, T., Agrawal, A., Edenberg, H.J., Liu, Y, Plawecki, M.H., Kuperman, S., Kramer, J.R., Meyers, J.M., Kamarajan, C., Pandey, A., Bierut, L., Rice, J., Bucholz, K.K., Schuckit, M.A., Tischfield, J., Hart, R., Almasy, L., Goate, A., Slesinger, P., Scott, D., Castelao, E., Räikkönen, K., Eriksson, J.G., Lahti, J., Hartman, C.A, Oldehinkel, A.J., Snieder, H., Liu, H., Preisig, M., Whipp, A., Vuoksimaa, E., Lu, Y., Jern, P., Rujescu, D., Giegling, I., Palviainen, T., Kaprio, J., Harden, K.P., Munafò, M.R., Morneau-Vaillancourt, G., Plomin, R., Viding, E., Boutwell, B.B., Aliev, F., Dick, D.M., Popma, A., Faraone, S.V, Børglum, A.D., Medland, S.E., Franke, B., Boivin, M., Pingault, J.-B., Glennon, J.C., Barnes, J.C., Fisher, S.E., Tielbeek, J.J., Uffelmann, E., Williams, B.S., Colodro-Conde, L., Gagnon, É., Mallard, T.T., Levitt, B.E., Jansen, P.R., Johansson, A, Sallis, H.M., Pistis, G., Saunders, G.R.B., Allegrini, A.G., Rimfeld, K., Konte, B., Klein, M., Hartmann, A.M., Salvatore, J.E., Nolte, I.M., Demontis, D., Malmberg, A.L.K., Burt, S.A., Savage, J.E., Sugden, K., Poulton, R., Harris, K.M., Vrieze, S., McGue, M., Iacono, W.G., Roth Mota, N., Mill, J., Viana, J.F., Mitchell, B.L., Morosoli, J.J., Andlauer, T.F.M., Ouellet-Morin, I., Tremblay, R.E., Côté, S.M., Gouin, J.-P., Brendgen, M.R., Dionne, G., Vitaro, F., Lupton, M.K., Martin, N.G., Porjesz, B., Hesselbrock, V., Foroud, T., Agrawal, A., Edenberg, H.J., Liu, Y, Plawecki, M.H., Kuperman, S., Kramer, J.R., Meyers, J.M., Kamarajan, C., Pandey, A., Bierut, L., Rice, J., Bucholz, K.K., Schuckit, M.A., Tischfield, J., Hart, R., Almasy, L., Goate, A., Slesinger, P., Scott, D., Castelao, E., Räikkönen, K., Eriksson, J.G., Lahti, J., Hartman, C.A, Oldehinkel, A.J., Snieder, H., Liu, H., Preisig, M., Whipp, A., Vuoksimaa, E., Lu, Y., Jern, P., Rujescu, D., Giegling, I., Palviainen, T., Kaprio, J., Harden, K.P., Munafò, M.R., Morneau-Vaillancourt, G., Plomin, R., Viding, E., Boutwell, B.B., Aliev, F., Dick, D.M., Popma, A., Faraone, S.V, Børglum, A.D., Medland, S.E., Franke, B., Boivin, M., Pingault, J.-B., Glennon, J.C., Barnes, J.C., and Fisher, S.E.

Abstract

Item does not contain fulltext

Published
2022

23. Smoking remains associated with education after controlling for social background and genetic factors in a study of 18 twin cohorts

Author

Silventoinen, K, Piirtola, M, Jelenkovic, A, Sund, R, Tarnoki, AD, Tarnoki, DL, Medda, E, Nistico, L, Toccaceli, V, Honda, C, Inui, F, Tomizawa, R, Watanabe, M, Sakai, N, Gatz, M, Butler, DA, Lee, J, Lee, SJ, Sung, J, Franz, CE, Kremen, WS, Lyons, MJ, Derom, CA, Vlietinck, RF, Loos, RJF, Tynelius, P, Rasmussen, F, Martin, NG, Medland, SE, Montgomery, GW, Brandt, I, Nilsen, TS, Harris, JR, Tyler, J, Hopper, JL, Magnusson, PKE, Pedersen, NL, Aslan, AKD, Ordonana, JR, Sanchez-Romera, JF, Colodro-Conde, L, Rebato, E, Zhang, D, Pang, Z, Tan, Q, Silberg, JL, Maes, HH, Boomsma, D, Sorensen, TIA, Korhonen, T, Kaprio, J, Silventoinen, K, Piirtola, M, Jelenkovic, A, Sund, R, Tarnoki, AD, Tarnoki, DL, Medda, E, Nistico, L, Toccaceli, V, Honda, C, Inui, F, Tomizawa, R, Watanabe, M, Sakai, N, Gatz, M, Butler, DA, Lee, J, Lee, SJ, Sung, J, Franz, CE, Kremen, WS, Lyons, MJ, Derom, CA, Vlietinck, RF, Loos, RJF, Tynelius, P, Rasmussen, F, Martin, NG, Medland, SE, Montgomery, GW, Brandt, I, Nilsen, TS, Harris, JR, Tyler, J, Hopper, JL, Magnusson, PKE, Pedersen, NL, Aslan, AKD, Ordonana, JR, Sanchez-Romera, JF, Colodro-Conde, L, Rebato, E, Zhang, D, Pang, Z, Tan, Q, Silberg, JL, Maes, HH, Boomsma, D, Sorensen, TIA, Korhonen, T, and Kaprio, J

Abstract

We tested the causality between education and smoking using the natural experiment of discordant twin pairs allowing to optimally control for background genetic and childhood social factors. Data from 18 cohorts including 10,527 monozygotic (MZ) and same-sex dizygotic (DZ) twin pairs discordant for education and smoking were analyzed by linear fixed effects regression models. Within twin pairs, education levels were lower among the currently smoking than among the never smoking co-twins and this education difference was larger within DZ than MZ pairs. Similarly, education levels were higher among former smoking than among currently smoking co-twins, and this difference was larger within DZ pairs. Our results support the hypothesis of a causal effect of education on both current smoking status and smoking cessation. However, the even greater intra-pair differences within DZ pairs, who share only 50% of their segregating genes, provide evidence that shared genetic factors also contribute to these associations.

Published
2022

24. Lifetime prevalence and correlates of perinatal depression in a case-cohort study of depression

Author

Kiewa, J, Meltzer-Brody, S, Milgrom, J, Bennett, E, Mackle, T, Guintivano, J, Hickie, IB, Colodro-Conde, L, Medland, SE, Martin, N, Wray, N, Byrne, E, Kiewa, J, Meltzer-Brody, S, Milgrom, J, Bennett, E, Mackle, T, Guintivano, J, Hickie, IB, Colodro-Conde, L, Medland, SE, Martin, N, Wray, N, and Byrne, E

Abstract

OBJECTIVES: This study sought to evaluate the prevalence, timing of onset and duration of symptoms of depression in the perinatal period (PND) in women with depression, according to whether they had a history of depression prior to their first perinatal period. We further sought to identify biopsychosocial correlates of perinatal symptoms in women with depression. DESIGN AND SETTING: The Australian Genetics of Depression Study is an online case cohort study of the aetiology of depression. For a range of variables, women with depression who report significant perinatal depressive symptoms were compared with women with lifetime depression who did not experience perinatal symptoms. PARTICIPANTS: In a large sample of parous women with major depressive disorder (n=7182), we identified two subgroups of PND cases with and without prior depression history (n=2261; n=878, respectively). PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome measure was a positive screen for PND on the lifetime version of the Edinburgh Postnatal Depression Scale. Descriptive measures reported lifetime prevalence, timing of onset and duration of PND symptoms. There were no secondary outcome measures. RESULTS: The prevalence of PND among parous women was 70%. The majority of women reported at least one perinatal episode with symptoms both antenatally and postnatally. Of women who experienced depression prior to first pregnancy, PND cases were significantly more likely to report more episodes of depression (OR=1.15 per additional depression episode, 95% CI 1.13 to 1.17, p<0.001), non-European ancestry (OR 1.5, 95% CI 1.0 to 2.1, p=0.03), severe nausea during pregnancy (OR 1.3, 95% CI 1.1 to 1.6, p=0.006) and emotional abuse (OR 1.4, 95% CI 1.1 to 1.7, p=0.005). CONCLUSIONS: The majority of parous women with lifetime depression in this study experienced PND, associated with more complex, severe depression. Results highlight the importance of perinatal assessments of depressive symptoms, part

Published
2022

25. Perinatal depression is associated with a higher polygenic risk for major depressive disorder than non-perinatal depression

Author

Kiewa, J, Meltzer-Brody, S, Milgrom, J, Guintivano, J, Hickie, IB, Whiteman, DC, Olsen, CM, Colodro-Conde, L, Medland, SE, Martin, NG, Wray, NR, Byrne, EM, Kiewa, J, Meltzer-Brody, S, Milgrom, J, Guintivano, J, Hickie, IB, Whiteman, DC, Olsen, CM, Colodro-Conde, L, Medland, SE, Martin, NG, Wray, NR, and Byrne, EM

Abstract

BACKGROUND: Distinctions between major depressive disorder (MDD) and perinatal depression (PND) reflect varying views of PND, from a unique etiological subtype of MDD to an MDD episode that happens to coincide with childbirth. This case-control study investigated genetic differences between PND and MDD outside the perinatal period (non-perinatal depression or NPD). METHODS: We conducted a genome-wide association study using PND cases (Edinburgh Postnatal Depression Scale score ≥ 13) from the Australian Genetics of Depression Study 2018 data (n = 3804) and screened controls (n = 6134). Results of gene-set enrichment analysis were compared with those of women with non-PND. For six psychiatric disorders/traits, genetic correlations with PND were evaluated, and logistic regression analysis reported polygenic score (PGS) association with both PND and NPD. RESULTS: Genes differentially expressed in ovarian tissue were significantly enriched (stdBeta = 0.07, p = 3.3e-04), but were not found to be associated with NPD. The genetic correlation between PND and MDD was 0.93 (SE = 0.07; p = 3.5e-38). Compared with controls, PGS for MDD are higher for PND cases (odds ratio [OR] = 1.8, confidence interval [CI] = [1.7-1.8], p = 9.5e-140) than for NPD cases (OR = 1.6, CI = [1.5-1.7], p = 1.2e-49). Highest risk is for those reporting both antenatal and postnatal depression, irrespective of prior MDD history. CONCLUSIONS: PND has a high genetic overlap with MDD, but points of distinction focus on differential expression in ovarian tissue and higher MDD PGS, particularly for women experiencing both antenatal and postpartum PND.

Published
2022

26. PINP en pacientes con insuficiencia hepática: Comparación de dos métodos de medida y asociación con diferentes parámetros bioquímicos

Author

Guadalix S, Martínez-Conde L, Martínez Díaz-Guerra G, Vargas C, and Hawkins F

Subjects
PINP, marcadores de remodelado óseo, densitometría ósea, Medicine, Osteopathy, RZ301-397.5
Abstract

Introducción: El propéptido N-terminal del colágeno tipo I (PINP) es un marcador de formación ósea. El PINP en suero se encuentra en forma trimérica y monomérica. Hay dos métodos automatizados para su determinación. R-PINP (Roche Diagnostics) determina ambas formas (PINP total). IDS-PINP (IDS iSYS N-Mid® Vitro) determina la fracción trimérica (PINP intacta). Objetivo: Comparar ambos métodos. Material y método: Se reclutaron 81 pacientes (64 hombres y 17 mujeres, edad media de 53 ± 8 años) con insuficiencia hepática terminal. Se midió PINP por ambos métodos, creatinina, PTH, 25-OH-vitamina D, beta-crosslaps (β-CTX), desoxipiridinolina (Dpyr) y la función hepática. Se midió la densidad mineral ósea (DMO) en columna lumbar y cuello femoral (Hologic®, QDR 4500). La comparación entre ambos métodos se realizó por análisis de Bland-Altman y Passing Bablok. Resultados: R-PINP mostró valores mayores que IDS-PINP (85,03 ± 56,67 vs. 55,22 ± 32,81 ng/mL, p

Published
2013

27. Remote heart failure management using the HeartLogic algorithm. RE-HEART Registry

Author

de Juan Bagudá J, Gavira Gómez JJ, Pachón Iglesias M, Cózar León R, Escolar Pérez V, González Fernández Ó, Rivas Gándara N, Goirigolzarri Artaza J, Díaz Molina B, Macías Gallego A, Martínez Mateo V, Martínez Martínez JG, Marrero Negrín N, Alonso Salinas GL, González Torres L, Delgado Jiménez JF, Sánchez-Aguilera P, Díaz Infante E, Arcocha Torres MF, Peña Conde L, Méndez Fernández AB, Pérez Castellano N, Rubín López JM, Madrazo Delgado I, Fernández-Anguita MJ, Ramos Ruiz P, Medina Moreno O, Cordero Pereda D, de Diego Rus C, Arribas Ynsaurriaga F, García Bolao I, Salguero Bodes R, and RE-HEART Registry group

Subjects
Cardiac resynchronization therapy, Remote monitoring, Terapia de resincronización cardiaca, ICD, Monitorización a distancia, DAI, Heart failure, Estratificación de riesgo, Risk stratification, Insuficiencia cardiaca
Abstract

INTRODUCTION AND OBJECTIVES: HeartLogic is a multiparametric algorithm incorporated into implantable cardioverter-defibrillators (ICD). The associated alerts predict impending heart failure (HF) decompensations. Our objective was to analyze the association between alerts and clinical events and to describe the implementation of a protocol for remote management in a multicenter registry. METHODS: We evaluated study phase 1 (the investigators were blinded to the alert state) and phases 2 and 3 (after HeartLogic activation, managed as per local practice and with a standardized protocol, respectively). RESULTS: We included 288 patients from 15 centers. In phase 1, the median observation period was 10 months and there were 73 alerts (0.72 alerts/patient-y), with 8 hospitalizations and 2 emergency room admissions for HF (0.10 events/patient-y). There were no HF hospitalizations outside the alert period. In the active phases, the median follow-up was 16 (95%CI, 15-22) months and there were 277 alerts (0.89 alerts/patient-y); 33 were associated with HF hospitalizations or HF death (n=6), 46 with minor decompensations, and 78 with other events. The unexplained alert rate was 0.39 alerts/patient-y. Outside the alert state, there was only 1 HF hospitalization and 1 minor HF decompensation. Most alerts (82% in phase 2 and 81% in phase 3; P=.861) were remotely managed. The median NT-proBNP value was higher within than outside the alert state (7378 vs 1210 pg/mL; P

Published
2022

33. Genome-wide analysis of over 106000 individuals identifies 9 neuroticism-associated loci

Author

Smith, D J, Escott-Price, V, Davies, G, Bailey, M ES, Colodro-Conde, L, Ward, J, Vedernikov, A, Marioni, R, Cullen, B, Lyall, D, Hagenaars, S P, Liewald, D CM, Luciano, M, Gale, C R, Ritchie, S J, Hayward, C, Nicholl, B, Bulik-Sullivan, B, Adams, M, Couvy-Duchesne, B, Graham, N, Mackay, D, Evans, J, Smith, B H, Porteous, D J, Medland, S E, Martin, N G, Holmans, P, McIntosh, A M, Pell, J P, Deary, I J, and OʼDonovan, M C

Published
2016
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34. Maternal-calf relationships and their influence on calves up to 120 days

Author

Emanoela Souza-Conde AL, María V. Andrea, Marcy Conde L, Jesus Delgado-Mendez, Fagner C. Souza, Mateus Paranhos da Costa JR, Thereza CB de Bittencourt dos SC, and Kaliane de Oliveira N

Subjects
Behavior, calves, suckling, well being, Veterinary medicine, SF600-1100
Abstract

Objectives. To research parental behavior and measure the weight of Nelore and Guzerat calves up to 120 days of age, collecting data from birth up to the first lactation. Materials and methods. Seven different corporal positions were considered to obtain specific data for each of the following categories: time to stand (TP), time to intend to feed after standing (TPTM), weight at birth (PN), weight at 120 days (P120), and time in contact with the calf (TCC). Additionally, independent variables were also evaluated, organized by class: weight at birth (CPN), number of calvings (CNP), order of calving in relation with the herd (CLPR), time of calving (CHP), and finally, hindering to feed (CTAT). Results. There was a significant result in favor of the Nelore race over the Guzerat race. The statistical averages for Nelore and Guzerat were: Time to stand averaged 71 and 153 minutes; time to intend to feed after standing, 39 minutes for Nelore and of 114 minutes for Guzerat. For variable weight at 120 days, Nelore reached an average of 122 kg, and Guzerat 109 kg. For the time in contact with the calf variable there was no significant variance between races. Conclusions. Results showed the superiority of the Nelore race, considering it better adapted to local environmental conditions. Key words: Behavior, calves, suckling, well being (Source: CAB).

Published
2015
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38. Assessment of Bidirectional Relationships Between Physical Activity and Depression Among Adults A 2-Sample Mendelian Randomization Study

Author

Choi, K.W., Chen, C.Y., Stein, M.B., Klimentidis, Y.C., Wang, M.J., Koenen, K.C., Smoller, J.W., Wray, N.R., Ripke, S., Mattheisen, M., Trzaskowski, M., Byrne, E.M., Abdellaoui, A., Adams, M.J., Agerbo, E., Air, T., Andlauer, T.F.M., Bacanu, S.A., Baekvad-Hansen, M., Beekman, A.T.F., Bigdeli, T.B., Binder, E.B., Blackwood, D.H.R., Bryois, J., Buttenschon, H.N., Bybjerg-Grauholm, J., Cai, N., Castelao, E., Hvarregaard, J., Christensen, J.H., Clarke, T.K., Coleman, J.R.I., Colodro-Conde, L., Couvy-Duchesne, B., Craddock, N., Crawford, G.E., Davies, G., Deary, I.J., Degenhardt, F., Derks, E.M., Direk, N., Dolan, C.V., Dunn, E.C., Eley, T.C., Escott-Price, V., Kiadeh, F.F.H., Finucane, H.K., Forstner, A.J., Frank, J., Gaspar, H.A., Gill, M., Goes, F.S., Gordon, S.D., Grove, J., Hall, L.S., Hansen, C.S., Hansen, T.F., Herms, S., Hickie, I.B., Hoffmann, P., Homuth, G., Horn, C., Hottenga, J.J., Hougaard, D.M., Ising, M., Jansen, R., Jorgenson, E., Knowles, J.A., Kohane, I.S., Kraft, J., Kretzschmar, W., Krogh, J., Kutalik, Z., Li, Y.H., Lind, P.A., MacIntyre, D.J., MacKinnon, D.F., Maier, R.M., Marchini, J., McGrath, P., McGuffin, P., Medland, S.E., Mehta, D., Middeldorp, C.M., Mihailov, E., Milaneschi, Y., Milani, L., Mondimore, F.M., Montgomery, G.W., Mostafavi, S., Mullins, N., Nauck, M., Ng, B., Nivard, M.G., Nyholt, D.R., O'Reilly, P.F., Oskarsson, H., Owen, M.J., Painter, J.N., Pedersen, C.B., Pedersen, M.G., Peterson, R.E., Pettersson, E., Peyrot, W.J., Pistis, G., Posthuma, D., Quiroz, J.A., Qvist, P., Rice, J.P., Riley, B.P., Rivera, M., Saeed, S., Schoevers, R., Schulte, E.C., Shen, L., Shi, J.X., Shyn, S.I., Sigurdsson, E., Sinnamon, G.C.B., Smit, J.H., Smith, D.J., Stefansson, H., Steinberg, S., Streit, F., Strohmaier, J., Tansey, K.E., Teismann, H., Teumer, A., Thompson, W., Thomson, P.A., Thorgeirsson, T.E., Traylor, M., Treutlein, J., Trubetskoy, V., Uitterlinden, A.G., Umbricht, D., Auwera, S. van der, Hemert, A.M. van, Viktorin, A., Visscher, P.M., Wang, Y.P., Webb, B.T., Weinsheimer, S.M., Wellmann, J., Willemsen, G., Witt, S.H., Wu, Y., Xi, H.L.S., Yang, J., Zhang, F.T., Arolt, V., Baune, B.T., Berger, K., Boomsma, D.I., Cichon, S., Dannlowski, U., Geus, E.J.C. de, DePaulo, J.R., Domenici, E., Domschke, K., Esko, T., Grabe, H.J., Hamilton, S.P., Hayward, C., Heath, A.C., Kendler, K.S., Kloiber, S., Lewis, G., Li, Q.Q.S., Lucae, S., Madden, P.A.F., Magnusson, P.K., Martin, N.G., McIntosh, A.M., Metspalu, A., Mors, O., Mortensen, P.B., Nordentoft, M., Nothen, M.M., O'Donovan, M.C., Paciga, S.A., Pedersen, N.L., Penninx, B.W.J.H., Perlis, R.H., Porteous, D.J., Potash, J.B., Preisig, M., Rietschel, M., Schaefer, C., Schulze, T.G., Stefansson, K., Tiemeier, H., Uher, R., Volzke, H., Weissman, M.M., Werge, T., Lewis, C.M., Levinson, D.F., Breen, G., Borglum, A.D., Sullivan, P.F., Major Depressive Disorder Working, Epidemiology, Internal Medicine, Child and Adolescent Psychiatry / Psychology, Psychiatry, Biological Psychology, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, and Adult Psychiatry

Subjects
Adult, DISORDER, medicine.medical_specialty, Genome-wide association study, EXERCISE, CAUSALITY, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, PEOPLE, Internal medicine, Accelerometry, Mendelian randomization, SCHIZOPHRENIA, Humans, Medicine, ANXIETY, Exercise, RISK, Depressive Disorder, Major, business.industry, Case-control study, SEDENTARY BEHAVIOR, Mendelian Randomization Analysis, Odds ratio, ASSOCIATION, Protective Factors, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Sample size determination, Case-Control Studies, Meta-analysis, Major depressive disorder, Self Report, business, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Importance: Increasing evidence shows that physical activity is associated with reduced risk for depression, pointing to a potential modifiable target for prevention. However, the causality and direction of this association are not clear; physical activity may protect against depression, and/or depression may result in decreased physical activity.Objective: To examine bidirectional relationships between physical activity and depression using a genetically informed method for assessing potential causal inference.Design, Setting, and Participants: This 2-sample mendelian randomization (MR) used independent top genetic variants associated with 2 physical activity phenotypes-self-reported (n = 377 234) and objective accelerometer-based (n = 91 084)-and with major depressive disorder (MDD) (n = 143 265) as genetic instruments from the largest available, nonoverlapping genome-wide association studies (GWAS). GWAS were previously conducted in diverse observational cohorts, including the UK Biobank (for physical activity) and participating studies in the Psychiatric Genomics Consortium (for MDD) among adults of European ancestry. Mendelian randomization estimates from each genetic instrument were combined using inverse variance weighted meta-analysis, with alternate methods (eg, weighted median, MR Egger, MR-Pleiotropy Residual Sum and Outlier [PRESSO]) and multiple sensitivity analyses to assess horizontal pleiotropy and remove outliers. Data were analyzed from May 10 through July 31, 2018.Main Outcomes and Measures: MDD and physical activity.Results: GWAS summary data were available for a combined sample size of 611 583 adult participants. Mendelian randomization evidence suggested a protective relationship between accelerometer-based activity and MDD (odds ratio [OR], 0.74 for MDD per 1-SD increase in mean acceleration; 95% CI, 0.59-0.92; P = .006). In contrast, there was no statistically significant relationship between MDD and accelerometer-based activity (β = -0.08 in mean acceleration per MDD vs control status; 95% CI, -0.47 to 0.32; P = .70). Furthermore, there was no significant relationship between self-reported activity and MDD (OR, 1.28 for MDD per 1-SD increase in metabolic-equivalent minutes of reported moderate-to-vigorous activity; 95% CI, 0.57-3.37; P = .48), or between MDD and self-reported activity (β = 0.02 per MDD in standardized metabolic-equivalent minutes of reported moderate-to-vigorous activity per MDD vs control status; 95% CI, -0.008 to 0.05; P = .15).Conclusions and Relevance: Using genetic instruments identified from large-scale GWAS, robust evidence supports a protective relationship between objectively assessed-but not self-reported-physical activity and the risk for MDD. Findings point to the importance of objective measurement of physical activity in epidemiologic studies of mental health and support the hypothesis that enhancing physical activity may be an effective prevention strategy for depression.

Published
2019

44. NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome

Author

Villamor, N, Conde, L, Martínez-Trillos, A, Cazorla, M, Navarro, A, Beà, S, López, C, Colomer, D, Pinyol, M, Aymerich, M, Rozman, M, Abrisqueta, P, Baumann, T, Delgado, J, Giné, E, González-Díaz, M, Hernández, J M, Colado, E, Payer, A R, Rayon, C, Navarro, B, José Terol, M, Bosch, F, Quesada, V, Puente, X S, López-Otín, C, Jares, P, Pereira, A, Campo, E, and López-Guillermo, A

Published
2013
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46. Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer

Author

IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Besson, C., Moore, A., Vajdic, C.M., de Sanjose, S., Camp, N.J., Smedby, K.E., Shanafelt, T.D., Morton, L.M., Brewer, J.D., Zablotska, L., Chung, C.C., Teras, L.R., Kleinstern, G., Monnereau, A., Kane, E., Benavente, Y., Purdue, M.P., Birmann, B.M., Link, B.K., Vermeulen, R.C.H., Spinelli, J.J., Albanes, D., Arslan, A.A., Miligi, L., Molina, T.J., Skibola, C.F., Cozen, W., Staines, A., Caporaso, N.E., Giles, G.G., Southey, M.C., Milne, R.L., Tinker, L.F., Severson, R.K., Melbye, M., Adami, H.-O., Glimelius, B., Bracci, P.M., Conde, L., Glenn, M., Curtin, K., Lan, Q., Zheng, T., Weinstein, S., Brooks-Wilson, A.R., Diver, W.R., Clavel, J., Vineis, P., Weiderpass, E., Becker, N., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., Weinberg, J.B., Sanna, S., Gambelunghe, A., Jackson, R.D., Hjalgrim, H., North, K.E., McKay, J., Offit, K., Vijai, J., Nieters, A., Engels, E.A., Chanock, S.J., Rothman, N., Cerhan, J.R., Slager, S.L., Han, J., Berndt, S.I., IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Besson, C., Moore, A., Vajdic, C.M., de Sanjose, S., Camp, N.J., Smedby, K.E., Shanafelt, T.D., Morton, L.M., Brewer, J.D., Zablotska, L., Chung, C.C., Teras, L.R., Kleinstern, G., Monnereau, A., Kane, E., Benavente, Y., Purdue, M.P., Birmann, B.M., Link, B.K., Vermeulen, R.C.H., Spinelli, J.J., Albanes, D., Arslan, A.A., Miligi, L., Molina, T.J., Skibola, C.F., Cozen, W., Staines, A., Caporaso, N.E., Giles, G.G., Southey, M.C., Milne, R.L., Tinker, L.F., Severson, R.K., Melbye, M., Adami, H.-O., Glimelius, B., Bracci, P.M., Conde, L., Glenn, M., Curtin, K., Lan, Q., Zheng, T., Weinstein, S., Brooks-Wilson, A.R., Diver, W.R., Clavel, J., Vineis, P., Weiderpass, E., Becker, N., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., Weinberg, J.B., Sanna, S., Gambelunghe, A., Jackson, R.D., Hjalgrim, H., North, K.E., McKay, J., Offit, K., Vijai, J., Nieters, A., Engels, E.A., Chanock, S.J., Rothman, N., Cerhan, J.R., Slager, S.L., Han, J., and Berndt, S.I.

Published
2021

47. The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area

Author

Tilot, A.K., Khramtsova, E.A., Liang, D., Grasby, K.L., Jahanshad, N., Painter, J., Colodro-Conde, L., Bralten, J.B., Hibar, D.P., Lind, P.A., Liu, S., Brotman, S.M., Thompson, P.M., Medland, S.E., Macciardi, F., Stranger, B.E., Davis, L.K., Fisher, S.E., Stein, J.L., Tilot, A.K., Khramtsova, E.A., Liang, D., Grasby, K.L., Jahanshad, N., Painter, J., Colodro-Conde, L., Bralten, J.B., Hibar, D.P., Lind, P.A., Liu, S., Brotman, S.M., Thompson, P.M., Medland, S.E., Macciardi, F., Stranger, B.E., Davis, L.K., Fisher, S.E., and Stein, J.L.

Abstract

Contains fulltext : 231711.pdf (Publisher’s version ) (Open Access), Structural brain changes along the lineage leading to modern Homo sapiens contributed to our distinctive cognitive and social abilities. However, the evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations of the genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens. We find that alleles with evidence of recent positive polygenic selection over the past 2000-3000 years are associated with increased surface area (SA) of the entire cortex, as well as specific regions, including those involved in spoken language and visual processing. Therefore, polygenic selective pressures impact the structure of specific cortical areas even over relatively recent timescales. Moreover, common sequence variation within human gained enhancers active in the prenatal cortex is associated with postnatal global SA. We show that such variation modulates the function of a regulatory element of the developmentally relevant transcription factor HEY2 in human neural progenitor cells and is associated with structural changes in the inferior frontal cortex. These results indicate that non-coding genomic regions active during prenatal cortical development are involved in the evolution of human brain structure and identify novel regulatory elements and genes impacting modern human brain structure.

Published
2021

48. The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma

Author

Carvalho, A, Cunha, C, Almeida, A J, Osório, N S, Saraiva, M, Teixeira-Coelho, M, Pedreiro, S, Torrado, E, Domingues, N, Gomes-Alves, A G, Marques, A, Lacerda, J F, da Silva, M G, Gomes, M, Pinto, A C, Torres, F, Rendeiro, P, Tavares, P, Di Ianni, M, Medeiros, R, Heutink, P, Bracci, P M, Conde, L, Ludovico, P, Pedrosa, J, Maciel, P, Pitzurra, L, Aversa, F, Marques, H, Paiva, A, Skibola, C F, Romani, L, Castro, A G, and Rodrigues, F

Published
2012
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50. From schizotypy to psychosis: is it a natural continuum?

Author

Andreo Vidal, M. A., Arribas Simón, M. B., Calvo Valcárcel, M., Pando Fernández, M. P., Martínez Gimeno, P., Guillén Soto, M. D. L. Á., Rodríguez Rodríguez, B., Navarro Barriga, N., Fernández Lozano, M., Mateos Sexmero, M. J., De Andrés Lobo, C., Vallecillo Adame, M. D. C., Jiménez Aparicio, T., Martín Santiago, Ó., Monllor Lazarraga, A., Ríos Vaquero, M., Rojas Vázquez, L., Sobrino Conde, L., Apario Parra, A., and Lorenzo Chapatte, G.

Subjects
SCHIZOTYPAL personality disorder, PSYCHOSES, LITERATURE reviews, PERSONALITY, MENTAL illness
Abstract

Introduction: Schizotypal personality is a condition suffered by 4% of the population. It is defined by presenting interpersonal, behavioral and perceptual features similar to the clinical features of psychotic disorders, such as schizophrenia, in less intensity and dysfunctionality, but at risk of reaching psychosis. Objectives: Presentation of a clinical case about a patient with premorbid schizotypal personality traits presenting with an acute psychotic episode. Methods: Literature review on association between schizotypal personality and psychosis. Results: A 57-year-old woman with a history of adaptive disorder due to work problems 13 years ago, currently without psychopharmacological treatment, goes to the emergency room brought by the emergency services due to behavioral alteration. She reports that "her husband and son wanted to sexually abuse her", so she had to run away from home and has been running through the streets of the town without clothes and barefoot. Her husband relates attitude alterations and extravagant behaviors of years of evolution, such as going on diets of eating only bread for 40 days or talking about exoteric and religious subjects, as believing that the devil got inside her husband through a dental implant. He reports that these behaviors have been accentuated during the last month. She has also created a tarot website, and has even had discussions with several users. She is increasingly suspicious of him, has stopped talking to him and stays in his room all day long, with unmotivated laughter and soliloquies. It was decided to admit him to Psychiatry and risperidone 4 mg was started. At the beginning, she was suspicious and reticent in the interview. As the days went by, communication improved, she showed a relaxed gesture and distanced herself from the delirious ideation, criticizing the episode. Conclusions: In recent years, there has been increasing interest in understanding the association between schizotypy and serious mental disorder. Several theories understand schizotypy as a natural continuum of personality that reveals genetic vulnerability and that can lead to psychotic disorder when added to precipitating factors. Other theories define schizotypy as a "latent schizophrenia" where symptoms are contained and expressed in less intensity. Around 20% evolves to paranoid schizophrenia or other serious mental disorders. It is complex to distinguish between those individuals in whom schizotypy is a prodrome and those in whom it is a stable personality trait. To date, studies applying early psychotherapeutic or pharmacological interventions have had insufficient and contradictory results, and the follow-up and treatment of these individuals could be a stress factor and a stigma. Some studies are looking for reliable markers of evolution to schizophrenia in order to establish adequate protocols for detention, follow-up and treatment. Disclosure of Interest: None Declared [ABSTRACT FROM AUTHOR]

Published
2024
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