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1دورية أكاديمية
المؤلفون: Munn-Chernoff, MA, Johnson, EC, Chou, YL, Coleman, JRI, Thornton, LM, Walters, RK, Yilmaz, Z, Baker, JH, Hubel, C, Gordon, S, Medland, SE, Watson, HJ, Gaspar, HA, Bryois, J, Hinney, A, Leppa, VM, Mattheisen, M, Ripke, S, Yao, SY, Giusti-Rodriguez, P, Hanscombe, KB, Adan, RAH, Alfredsson, L, Ando, T, Andreassen, OA, Berrettini, WH, Boehm, I, Boni, C, Perica, VB, Buehren, K, Burghardt, R, Cassina, M, Cichon, S, Clementi, M, Cone, RD, Courtet, P, Crow, S, Crowley, JJ, Danner, UN, Davis, OSP, de Zwaan, M, Dedoussis, G, Degortes, D, DeSocio, JE, Dick, DM, Dikeos, D, Dina, C, Dmitrzak-Weglarz, M, Docampo, E, Duncan, LE, Egberts, K, Ehrlich, S, Escaramis, G, Esko, T, Estivill, X, Farmer, A, Favaro, A, Fernandez-Aranda, F, Fichter, MM, Fischer, K, Focker, M, Foretova, L, Forstner, AJ, Forzan, M, Franklin, CS, Gallinger, S, Giegling, I, Giuranna, J, Gonidakis, F, Gorwood, P, Mayora, MG, Guillaume, S, Guo, YR, Hakonarson, H, Hatzikotoulas, K, Hauser, J, Hebebrand, J, Helder, SG, Herms, S, Herpertz-Dahlmann, B, Herzog, W, Huckins, LM, Hudson, JI, Imgart, H, Inoko, H, Janout, V, Jimenez-Murcia, S, Julia, A, Kalsi, G, Kaminska, D, Karhunen, L, Karwautz, A, Kas, MJH, Kennedy, JL, Keski-Rahkonen, A, Kiezebrink, K, Kim, YR, Klump, KL, Knudsen, GPS, La Via, MC, Le Hellard, S, Levitan, RD, Li, D, Lilenfeld, L, Lin, BD, Lissowska, J, Luykx, J, Magistretti, PJ, Maj, M, Mannik, K, Marsal, S, Marshall, CR, Mattingsdal, M, McDevitt, S, McGuffin, P, Metspalu, A, Meulenbelt, I, Micali, N, Mitchell, K, Monteleone, AM, Monteleone, P, Nacmias, B, Navratilova, M, Ntalla, I, O'Toole, JK, Ophoff, RA, Padyukov, L, Palotie, A, Pantel, J, Papezova, H, Pinto, D, Rabionet, R, Raevuori, A, Ramoz, N, Reichborn-Kjennerud, T, Ricca, V, Ripatti, S, Ritschel, F, Roberts, M, Rotondo, A, Rujescu, D, Rybakowski, F, Santonastaso, P, Scherag, A, Scherer, SW, Schmidt, U, Schork, NJ, Schosser, A, Seitz, J, Slachtova, L, Slagboom, PE, Landt, MCTSO, Slopien, A, Sorbi, S, Swiatkowska, B, Szatkiewicz, JP, Tachmazidou, I, Tenconi, E, Tortorella, A, Tozzi, F, Treasure, J, Tsitsika, A, Tyszkiewicz-Nwafor, M, Tziouvas, K, van Elburg, AA, van Furth, EF, Wagner, G, Walton, E, Widen, E, Zeggini, E, Zerwas, S, Zipfel, S, Bergen, AW, Boden, JM, Brandt, H, Crawford, S, Halmi, KA, Horwood, LJ, Johnson, C, Kaplan, AS, Kaye, WH, Mitchell, J, Olsen, CM, Pearson, JF, Pedersen, NL, Strober, M, Werge, T, Whiteman, DC, Woodside, DB, Grove, J, Henders, AK, Larsen, JT, Parker, R, Petersen, LV, Jordan, J, Kennedy, MA, Birgegard, A, Lichtenstein, P, Norring, C, Landen, M, Mortensen, PB, Polimanti, R, McClintick, JN, Adkins, AE, Aliev, F, Bacanu, SA, Batzler, A, Bertelsen, S, Biernacka, JM, Bigdeli, TB, Chen, LS, Clarke, TK, Degenhardt, F, Docherty, AR, Edwards, AC, Foo, JC, Fox, L, Frank, J, Hack, LM, Hartmann, AM, Hartz, SM, Heilmann-Heimbach, S, Hodgkinson, C, Hoffmann, P, Hottenga, JJ, Konte, B, Lahti, J, Lahti-Pulkkinen, M, Lai, DB, Ligthart, L, Loukola, A, Maher, BS, Mbarek, H, McIntosh, AM, McQueen, MB, Meyers, JL, Milaneschi, Y, Palviainen, T, Peterson, RE, Ryu, E, Saccone, NL, Salvatore, JE, Sanchez-Roige, S, Schwandt, M, Sherva, R, Streit, F, Strohmaier, J, Thomas, N, Wang, JC, Webb, BT, Wedow, R, Wetherill, L, Wills, AG, Zhou, H, Boardman, JD, Chen, DF, Choi, DS, Copeland, WE, Culverhouse, RC, Dahmen, N, Degenhardt, L, Domingue, BW, Frye, MA, Gabel, W, Hayward, C, Ising, M, Keyes, M, Kiefer, F, Koller, G, Kramer, J, Kuperman, S, Lucae, S, Lynskey, MT, Maier, W, Mann, K, Mannisto, S, Muller-Myhsok, B, Murray, AD, Nurnberger, JI, Preuss, U, Raikkonen, K, Reynolds, MD, Ridinger, M, Scherbaum, N, Schuckit, MA, Soyka, M, Treutlein, J, Witt, SH, Wodarz, N, Zill, P, Adkins, DE, Boomsma, DI, Bierut, LJ, Brown, SA, Bucholz, KK, Costello, EJ, de Wit, H, Diazgranados, N, Eriksson, JG, Farrer, LA, Foroud, TM, Gillespie, NA, Goate, AM, Goldman, D, Grucza, RA, Hancock, DB, Harris, KM, Hesselbrock, V, Hewitt, JK, Hopfer, CJ, Iacono, WG, Johnson, EO, Karpyak, VM, Kendler, KS, Kranzler, HR, Krauter, K, Lind, PA, McGue, M, MacKillop, J, Madden, PAF, Maes, HH, Magnusson, PKE, Nelson, EC, Nothen, MM, Palmer, AA, Penninx, BWJH, Porjesz, B, Rice, JP, Rietschel, M, Riley, BP, Rose, RJ, Shen, PH, Silberg, J, Stallings, MC, Tarter, RE, Vanyukov, MM, Vrieze, S, Wall, TL, Whitfield, JB, Zhao, HY, Neale, BM, Wade, TD, Heath, AC, Montgomery, GW, Martin, NG, Sullivan, PF, Kaprio, J, Breen, G, Gelernter, J, Edenberg, HJ, Bulik, CM, Agrawal, A
المساهمون: Munn-Chernoff, Ma, Johnson, Ec, Chou, Yl, Coleman, Jri, Thornton, Lm, Walters, Rk, Yilmaz, Z, Baker, Jh, Hubel, C, Gordon, S, Medland, Se, Watson, Hj, Gaspar, Ha, Bryois, J, Hinney, A, Leppa, Vm, Mattheisen, M, Ripke, S, Yao, Sy, Giusti-Rodriguez, P, Hanscombe, Kb, Adan, Rah, Alfredsson, L, Ando, T, Andreassen, Oa, Berrettini, Wh, Boehm, I, Boni, C, Perica, Vb, Buehren, K, Burghardt, R, Cassina, M, Cichon, S, Clementi, M, Cone, Rd, Courtet, P, Crow, S, Crowley, Jj, Danner, Un, Davis, Osp, de Zwaan, M, Dedoussis, G, Degortes, D, Desocio, Je, Dick, Dm, Dikeos, D, Dina, C, Dmitrzak-Weglarz, M, Docampo, E, Duncan, Le, Egberts, K, Ehrlich, S, Escaramis, G, Esko, T, Estivill, X, Farmer, A, Favaro, A, Fernandez-Aranda, F, Fichter, Mm, Fischer, K, Focker, M, Foretova, L, Forstner, Aj, Forzan, M, Franklin, C, Gallinger, S, Giegling, I, Giuranna, J, Gonidakis, F, Gorwood, P, Mayora, Mg, Guillaume, S, Guo, Yr, Hakonarson, H, Hatzikotoulas, K, Hauser, J, Hebebrand, J, Helder, Sg, Herms, S, Herpertz-Dahlmann, B, Herzog, W, Huckins, Lm, Hudson, Ji, Imgart, H, Inoko, H, Janout, V, Jimenez-Murcia, S, Julia, A, Kalsi, G, Kaminska, D, Karhunen, L, Karwautz, A, Kas, Mjh, Kennedy, Jl, Keski-Rahkonen, A, Kiezebrink, K, Kim, Yr, Klump, Kl, Knudsen, Gp, La Via, Mc
مصطلحات موضوعية: eating disorder, genetic correlation, substance use
الوصف: Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [r(g)], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from similar to 2400 to similar to 537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (r(g) = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (r(g) = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (r(g) = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (r(gs) = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships ...
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32064741; info:eu-repo/semantics/altIdentifier/wos/WOS:000513571200001; journal:ADDICTION BIOLOGY; http://hdl.handle.net/11577/3329221Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079714981
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2دورية أكاديمية
المؤلفون: Munn-Chernoff M. A., Johnson E. C., Chou Y. -L., Coleman J. R. I., Thornton L. M., Walters R. K., Yilmaz Z., Baker J. H., Hubel C., Gordon S., Medland S. E., Watson H. J., Gaspar H. A., Bryois J., Hinney A., Leppa V. M., Mattheisen M., Ripke S., Yao S., Giusti-Rodriguez P., Hanscombe K. B., Adan R. A. H., Alfredsson L., Ando T., Andreassen O. A., Berrettini W. H., Boehm I., Boni C., Boraska Perica V., Buehren K., Burghardt R., Cassina M., Cichon S., Clementi M., Cone R. D., Courtet P., Crow S., Crowley J. J., Danner U. N., Davis O. S. P., de Zwaan M., Dedoussis G., Degortes D., DeSocio J. E., Dick D. M., Dikeos D., Dina C., Dmitrzak-Weglarz M., Docampo E., Duncan L. E., Egberts K., Ehrlich S., Escaramis G., Esko T., Estivill X., Farmer A., Favaro A., Fernandez-Aranda F., Fichter M. M., Fischer K., Focker M., Foretova L., Forstner A. J., Forzan M., Franklin C. S., Gallinger S., Giegling I., Giuranna J., Gonidakis F., Gorwood P., Gratacos Mayora M., Guillaume S., Guo Y., Hakonarson H., Hatzikotoulas K., Hauser J., Hebebrand J., Helder S. G., Herms S., Herpertz-Dahlmann B., Herzog W., Huckins L. M., Hudson J. I., Imgart H., Inoko H., Janout V., Jimenez-Murcia S., Julia A., Kalsi G., Kaminska D., Karhunen L., Karwautz A., Kas M. J. H., Kennedy J. L., Keski-Rahkonen A., Kiezebrink K., Kim Y. -R., Klump K. L., Knudsen G. P. S., La Via M. C., Le Hellard S., Levitan R. D., Li D., Lilenfeld L., Lin B. D., Lissowska J., Luykx J., Magistretti P. J., Maj M., Mannik K., Marsal S., Marshall C. R., Mattingsdal M., McDevitt S., McGuffin P., Metspalu A., Meulenbelt I., Micali N., Mitchell K., Monteleone A. M., Monteleone P., Nacmias B., Navratilova M., Ntalla I., O'Toole J. K., Ophoff R. A., Padyukov L., Palotie A., Pantel J., Papezova H., Pinto D., Rabionet R., Raevuori A., Ramoz N., Reichborn-Kjennerud T., Ricca V., Ripatti S., Ritschel F., Roberts M., Rotondo A., Rujescu D., Rybakowski F., Santonastaso P., Scherag A., Scherer S. W., Schmidt U., Schork N. J., Schosser A., Seitz J., Slachtova L., Slagboom P. E., Slof-Op't Landt M. C. T., Slopien A., Sorbi S., Swiatkowska B., Szatkiewicz J. P., Tachmazidou I., Tenconi E., Tortorella A., Tozzi F., Treasure J., Tsitsika A., Tyszkiewicz-Nwafor M., Tziouvas K., van Elburg A. A., van Furth E. F., Wagner G., Walton E., Widen E., Zeggini E., Zerwas S., Zipfel S., Bergen A. W., Boden J. M., Brandt H., Crawford S., Halmi K. A., Horwood L. J., Johnson C., Kaplan A. S., Kaye W. H., Mitchell J., Olsen C. M., Pearson J. F., Pedersen N. L., Strober M., Werge T., Whiteman D. C., Woodside D. B., Grove J., Henders A. K., Larsen J. T., Parker R., Petersen L. V., Jordan J., Kennedy M. A., Birgegard A., Lichtenstein P., Norring C., Landen M., Mortensen P. B., Polimanti R., McClintick J. N., Adkins A. E., Aliev F., Bacanu S. -A., Batzler A., Bertelsen S., Biernacka J. M., Bigdeli T. B., Chen L. -S., Clarke T. -K., Degenhardt F., Docherty A. R., Edwards A. C., Foo J. C., Fox L., Frank J., Hack L. M., Hartmann A. M., Hartz S. M., Heilmann-Heimbach S., Hodgkinson C., Hoffmann P., Hottenga J. -J., Konte B., Lahti J., Lahti-Pulkkinen M., Lai D., Ligthart L., Loukola A., Maher B. S., Mbarek H., McIntosh A. M., McQueen M. B., Meyers J. L., Milaneschi Y., Palviainen T., Peterson R. E., Ryu E., Saccone N. L., Salvatore J. E., Sanchez-Roige S., Schwandt M., Sherva R., Streit F., Strohmaier J., Thomas N., Wang J. -C., Webb B. T., Wedow R., Wetherill L., Wills A. G., Zhou H., Boardman J. D., Chen D., Choi D. -S., Copeland W. E., Culverhouse R. C., Dahmen N., Degenhardt L., Domingue B. W., Frye M. A., Gabel W., Hayward C., Ising M., Keyes M., Kiefer F., Koller G., Kramer J., Kuperman S., Lucae S., Lynskey M. T., Maier W., Mann K., Mannisto S., Muller-Myhsok B., Murray A. D., Nurnberger J. I., Preuss U., Raikkonen K., Reynolds M. D., Ridinger M., Scherbaum N., Schuckit M. A., Soyka M., Treutlein J., Witt S. H., Wodarz N., Zill P., Adkins D. E., Boomsma D. I., Bierut L. J., Brown S. A., Bucholz K. K., Costello E. J., de Wit H., Diazgranados N., Eriksson J. G., Farrer L. A., Foroud T. M., Gillespie N. A., Goate A. M., Goldman D., Grucza R. A., Hancock D. B., Harris K. M., Hesselbrock V., Hewitt J. K., Hopfer C. J., Iacono W. G., Johnson E. O., Karpyak V. M., Kendler K. S., Kranzler H. R., Krauter K., Lind P. A., McGue M., MacKillop J., Madden P. A. F., Maes H. H., Magnusson P. K. E., Nelson E. C., Nothen M. M., Palmer A. A., Penninx B. W. J. H., Porjesz B., Rice J. P., Rietschel M., Riley B. P., Rose R. J., Shen P. -H., Silberg J., Stallings M. C., Tarter R. E., Vanyukov M. M., Vrieze S., Wall T. L., Whitfield J. B., Zhao H., Neale B. M., Wade T. D., Heath A. C., Montgomery G. W., Martin N. G., Sullivan P. F., Kaprio J., Breen G., Gelernter J., Edenberg H. J., Bulik C. M., Agrawal A.
المساهمون: Munn-Chernoff, M. A., Johnson, E. C., Chou, Y. -L., Coleman, J. R. I., Thornton, L. M., Walters, R. K., Yilmaz, Z., Baker, J. H., Hubel, C., Gordon, S., Medland, S. E., Watson, H. J., Gaspar, H. A., Bryois, J., Hinney, A., Leppa, V. M., Mattheisen, M., Ripke, S., Yao, S., Giusti-Rodriguez, P., Hanscombe, K. B., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Berrettini, W. H., Boehm, I., Boni, C., Boraska Perica, V., Buehren, K., Burghardt, R., Cassina, M., Cichon, S., Clementi, M., Cone, R. D., Courtet, P., Crow, S., Crowley, J. J., Danner, U. N., Davis, O. S. P., de Zwaan, M., Dedoussis, G., Degortes, D., Desocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L. E., Egberts, K., Ehrlich, S., Escaramis, G., Esko, T., Estivill, X., Farmer, A., Favaro, A., Fernandez-Aranda, F., Fichter, M. M., Fischer, K., Focker, M., Foretova, L., Forstner, A. J., Forzan, M., Franklin, C. S., Gallinger, S., Giegling, I., Giuranna, J., Gonidakis, F., Gorwood, P., Gratacos Mayora, M., Guillaume, S., Guo, Y., Hakonarson, H., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S. G., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Huckins, L. M., Hudson, J. I., Imgart, H., Inoko, H., Janout, V., Jimenez-Murcia, S., Julia, A., Kalsi, G., Kaminska, D., Karhunen, L., Karwautz, A., Kas, M. J. H., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. -R., Klump, K. L., Knudsen, G. P. S., La Via, M. C.
مصطلحات موضوعية: eating disorder, genetic correlation, substance use, psy, envir
الوصف: Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [rg], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (rg = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (rg = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (rgs = −0.19 to −0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
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3دورية أكاديمية
المؤلفون: Ghisdal, L., Baron, C., Lebranchu, Y., Viklický, O., Konarikova, A., Naesens, M, Kuypers, D., Dinic, M, Alamartine, E., Touchard, G., Antoine, T., Essig, M, Rerolle, J., Merville, P., Taupin, J.D., Le Meur, Yves, Grall-Jezequel, A., Glowacki, F., Noël, C., Legendre, C., Anglicheau, D, Broeders, N., Coppieters, W., Docampo, E., Georges, Mathias, Ajarchouh, Z., Massart, A., Racapé, J, Abramowicz, D, Abramowicz, M
المساهمون: Department of Nephrology - Dialysis and Renal Transplantation, Hôpital Erasmes, Service de néphrologie et immunologie clinique, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau-Université de Tours, Department of Nephrology, Intitute for clinical and Experimental Medicine, Department of microbiology and Immunology, University of Leuven K.U.Leuven, Department of Nephrology and Renal Transplantation, University Hospitals Leuven Leuven -Catholic University Leuven, CHU de Saint-Etienne, CHU de Saint-Etienne-CHU de Saint-Etienne, Département de Néphrologie, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Lebanese University Beirut (LU), Hydrosciences Montpellier (HSM), Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Recherche pour le Développement (IRD)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Lymphocyte B et Auto-immunité (LBAI), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHRU - Service de néphrologie, dialyse et transplantation rénale, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), LabEX IGO Immunothérapie Grand Ouest, Centre Hospitalier Régional Universitaire Lille (CHRU Lille), Impact de l'environnement chimique sur la santé humaine - ULR 4483 (IMPECS), Université de Lille-Centre Hospitalier Régional Universitaire Lille (CHRU Lille), Institut national de recherche et de sécurité (Vandoeuvre lès Nancy) (INRS ( Vandoeuvre lès Nancy)), Service de néphrologie adultes CHU Necker, CHU Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Groupe Interdisciplinaire de Génoprotéomique Appliquée (GIGA-Research), Université de Liège, Science des Procédés Céramiques et de Traitements de Surface (SPCTS), Université de Limoges (UNILIM)-Ecole Nationale Supérieure de Céramique Industrielle (ENSCI)-Institut des Procédés Appliqués aux Matériaux (IPAM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire = Insitute of Interdisciplinary Research Bruxelles, Belgique (IRIBHM), Faculté de Médecine Bruxelles (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Centre of Epidemiology Biostatistic and Clinical Research, Université libre de Bruxelles (ULB), Department of Nephrology Antwerp, University of Antwerp (UA), Medical Genetics Department, Brussels, Hôpital Erasme Bruxelles (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine Bruxelles (ULB)
المصدر: ISSN: 1600-6135.
مصطلحات موضوعية: immunogenetics, genomics, genetics, biomarker, basic (laboratory) research/science, microarray/gene array, immunosuppression/immune modulation, kidney transplantation/nephrology, rejection: T cell mediated (TCMR), [SDV.IMM]Life Sciences [q-bio]/Immunology
الوصف: International audience ; Acute renal rejection is a major risk factor for chronic allograft dysfunction and long-term graft loss. We performed a genome-wide association study to detect loci associated with biopsy-proven acute T cell-mediated rejection occurring in the first year after renal transplantation. In a discovery cohort of 4127 European renal allograft recipients transplanted in eight European centers, we used a DNA pooling approach to compare 275 cases and 503 controls. In an independent replication cohort of 2765 patients transplanted in two European countries, we identified 313 cases and 531 controls, in whom we genotyped individually the most significant single nucleotide polymorphisms (SNPs) from the discovery cohort. In the discovery cohort, we found five candidate loci tagged by a number of contiguous SNPs (more than five) that was never reached in iterative in silico permutations of our experimental data. In the replication cohort, two loci remained significantly associated with acute rejection in both univariate and multivariate analysis. One locus encompasses PTPRO, coding for a receptor-type tyrosine kinase essential for B cell receptor signaling. The other locus involves ciliary gene CCDC67, in line with the emerging concept of a shared building design between the immune synapse and the primary cilium.
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27272414; hal-01529321; https://hal.archives-ouvertes.fr/hal-01529321Test; PUBMED: 27272414
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4دورية أكاديمية
المؤلفون: Docampo, E., Ribasés, M., Gratacòs, M., Bruguera, E., Cabezas, C., Sánchez‐Mora, C., Nieva, G., Puente, D., Argimon‐Pallàs, J. M., Casas, M., Rabionet, R., Estivill, X.
المصدر: Genes, Brain and Behavior ; volume 11, issue 6, page 704-711 ; ISSN 1601-1848 1601-183X
الوصف: The Neurexin 3 gene ( NRXN3) has been associated with dependence on various addictive substances, as well as with the degree of smoking in schizophrenic patients and impulsivity among tobacco abusers. To further evaluate the role of NRXN3 in nicotine addiction, we analyzed single nucleotide polymorphisms (SNPs) and a copy number variant (CNV) within the NRXN3 genomic region. An initial study was carried out on 157 smokers and 595 controls, all of Spanish Caucasian origin. Nicotine dependence was assessed using the Fagerström index and the number of cigarettes smoked per day. The 45 NRXN3 SNPs genotyped included all the SNPs previously associated with disease, and a previously described deletion within NRXN3 . This analysis was replicated in 276 additional independent smokers and 568 controls. Case–control association analyses were performed at the allele, genotype and haplotype levels. Allelic and genotypic association tests showed that three NRXN3 SNPs were associated with a lower risk of being a smoker. The haplotype analysis showed that one block of 16 Kb, consisting of two of the significant SNPs (rs221473 and rs221497), was also associated with lower risk of being a smoker in both the discovery and the replication cohorts, reaching a higher level of significance when the whole sample was considered [odds ratio = 0.57 (0.42–0.77), permuted P = 0.0075]. By contrast, the NRXN3 CNV was not associated with smoking behavior. Taken together, our results confirm a role for NRXN3 in susceptibility to smoking behavior, and strongly implicate this gene in genetic vulnerability to addictive behaviors.
