المؤلفون: Nathan DM, Buse JB, Davidson MB, Holman RR, Sherwin R, Zinman B., FERRANNINI, ELEUTERIO

المساهمون: Nathan, Dm, Buse, Jb, Davidson, Mb, Ferrannini, Eleuterio, Holman, Rr, Sherwin, R, Zinman, B.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000252178900039; volume:31; issue:1; firstpage:173; lastpage:175; numberofpages:3; journal:DIABETES CARE; http://hdl.handle.net/11568/126955Test

الإتاحة: https://doi.org/10.2337/dc08-9016Test
http://hdl.handle.net/11568/126955Test

المؤلفون: NATHAN DM, KUENEN J, BORG R, ZHENG H, SCHOENFELD D, HEINE RJ, KERNER GS, VAN IPEREN A, HORTON E, COHEN A, HERZLINGER BOTEIN S, PARADIS J, SAUDEK C, MOORE K, GREENE A, ISLAS M, NERUP J, GLUMER C, MOSCA A, LAPOLLA, ANNUNZIATA, FEDELE, DOMENICO, SARTORE, GIOVANNI

المساهمون: Nathan, Dm, Kuenen, J, Borg, R, Zheng, H, Schoenfeld, D, Heine, Rj, Kerner, G, VAN IPEREN, A, Horton, E, Cohen, A, HERZLINGER BOTEIN, S, Paradis, J, Saudek, C, Moore, K, Greene, A, Islas, M, Nerup, J, Glumer, C, Mosca, A, Lapolla, Annunziata, Fedele, Domenico, Sartore, Giovanni

الوصف: OBJECTIVE: The A1C assay, expressed as the percent of hemoglobin that is glycated, measures chronic glycemia and is widely used to judge the adequacy of diabetes treatment and adjust therapy. Day-to-day management is guided by self-monitoring of capillary glucose concentrations (milligrams per deciliter or millimoles per liter). We sought to define the mathematical relationship between A1C and average glucose (AG) levels and determine whether A1C could be expressed and reported as AG in the same units as used in self-monitoring. RESEARCH DESIGN AND METHODS: A total of 507 subjects, including 268 patients with type 1 diabetes, 159 with type 2 diabetes, and 80 nondiabetic subjects from 10 international centers, was included in the analyses. A1C levels obtained at the end of 3 months and measured in a central laboratory were compared with the AG levels during the previous 3 months. AG was calculated by combining weighted results from at least 2 days of continuous glucose monitoring performed four times, with seven-point daily self-monitoring of capillary (fingerstick) glucose performed at least 3 days per week. RESULTS: Approximately 2,700 glucose values were obtained by each subject during 3 months. Linear regression analysis between the A1C and AG values provided the tightest correlations (AG(mg/dl) = 28.7 x A1C - 46.7, R(2) = 0.84, P < 0.0001), allowing calculation of an estimated average glucose (eAG) for A1C values. The linear regression equations did not differ significantly across subgroups based on age, sex, diabetes type, race/ethnicity, or smoking status. CONCLUSIONS: A1C levels can be expressed as eAG for most patients with type 1 and type 2 diabetes.

العلاقة: volume:31(8); firstpage:1473; lastpage:1478; numberofpages:6; journal:DIABETES CARE; http://hdl.handle.net/11577/2441590Test

الإتاحة: http://hdl.handle.net/11577/2441590Test

المؤلفون: Nathan DM, Buse JB, Davidson MB, Holman RR, Sherwin R, Zinman B., FERRANNINI, ELEUTERIO

المساهمون: Nathan, Dm, Buse, Jb, Davidson, Mb, Ferrannini, Eleuterio, Holman, Rr, Sherwin, R, Zinman, B.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000251320900003; volume:51; issue:1; firstpage:8; lastpage:11; numberofpages:4; journal:DIABETOLOGIA; http://hdl.handle.net/11568/126912Test

الإتاحة: https://doi.org/10.1007/s00125-007-0873-zTest
http://hdl.handle.net/11568/126912Test

المؤلفون: Hicks J, Muller M, Panteghini M, John G, Deeb L, Buse J, Nathan DM, Kahn R, Heine R, Silink M, Mbanya JC, FERRANNINI, ELEUTERIO

المساهمون: Hicks, J, Muller, M, Panteghini, M, John, G, Deeb, L, Buse, J, Nathan, Dm, Kahn, R, Ferrannini, Eleuterio, Heine, R, Silink, M, Mbanya, Jc

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000249448700046; volume:30; issue:9; firstpage:2399; lastpage:2400; numberofpages:2; journal:DIABETES CARE; http://hdl.handle.net/11568/117166Test

الإتاحة: https://doi.org/10.2337/dc07-9925Test
http://hdl.handle.net/11568/117166Test

المؤلفون: E. A. Stahl, D. Wegmann, G. Trynka, J. Gutierrez Achury, R. Do, B. F. Voight, P. Kraft, R. Chen, H. J. Kallberg, F. A. S, D. G. Replication, M. a. Consortium, M. I. Genetics, S. Kathiresan, C. Wijmenga, P. K. Gregersen, L. Alfredsson, K. A. Siminovitch, J. Worthington, P. I. W, S. Raychaudhuri, R. M. Plenge, Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Boström KB, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI, Kathiresan S, Williams G, Nathan DM, MacRae CA, O'Donnell CJ, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Purcell S, Surti A, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, RIBICHINI, Flavio Luciano

المساهمون: E. A., Stahl, D., Wegmann, G., Trynka, J., Gutierrez Achury, R., Do, B. F., Voight, P., Kraft, R., Chen, H. J., Kallberg, F. A., S., D. G., Replication, M. a., Consortium, M. I., Genetic, S., Kathiresan, C., Wijmenga, P. K., Gregersen, L., Alfredsson, K. A., Siminovitch, J., Worthington, P. I., W., S., Raychaudhuri, R. M., Plenge, Voight, Bf, Scott, Lj, Steinthorsdottir, V, Morris, Ap, Dina, C, Welch, Rp, Zeggini, E, Huth, C, Aulchenko, Y, Thorleifsson, G, Mcculloch, Lj, Ferreira, T, Grallert, H, Amin, N, Wu, G, Willer, Cj, Raychaudhuri, S, Mccarroll, Sa, Langenberg, C, Hofmann, Om, Dupuis, J, Qi, L, Segrè, Av, van Hoek, M, Navarro, P, Ardlie, K, Balkau, B, Benediktsson, R, Bennett, Aj, Blagieva, R, Boerwinkle, E, Bonnycastle, Ll, Boström, Kb, Bravenboer, B, Bumpstead, S, Burtt, Np, Charpentier, G, Chines, P, Cornelis, M, Couper, Dj, Crawford, G, Doney, A, Elliott, K, Elliott, Al, Erdos, Mr, Fox, C, Franklin, C, Ganser, M, Gieger, C, Grarup, N, Green, T, Griffin, S, Groves, Cj, Guiducci, C, Hadjadj, S, Hassanali, N, Herder, C, Isomaa, B, Jackson, Au, Johnson, Pr, Jørgensen, T, Kao, Wh, Klopp, N, Kong, A, Kraft, P, Kuusisto, J, Lauritzen, T, Li, M, Lieverse, A, Lindgren, Cm, Lyssenko, V, Marre, M, Meitinger, T, Midthjell, K, Morken, Ma, Narisu, N, Nilsson, P, Owen, Kr

مصطلحات موضوعية: Arthriti, Rheumatoid, genetics, Bayes Theorem, Cardiovascular Disease, Case-Control Studies, Celiac Disease, Diabetes Mellitu, Type 2, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Multifactorial Inheritance, Polymorphism, Single Nucleotide

الوصف: The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method using polygenic risk-score analyses to infer the total liability-scale variance explained by associated GWAS SNPs. Using this method, we estimated that, together, thousands of SNPs from rheumatoid arthritis GWAS explain an additional 20\% of disease risk (excluding known associated loci). We further tested this method on datasets for three additional diseases and obtained comparable estimates for celiac disease (43\% excluding the major histocompatibility complex), myocardial infarction and coronary artery disease (48\%) and type 2 diabetes (49\%). Our results are consistent with simulated genetic models in which hundreds of associated loci harbor common causal variants and a smaller number of loci harbor multiple rare causal variants. These analyses suggest that GWAS will continue to be highly productive for the discovery of additional susceptibility loci for common diseases.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22446960; info:eu-repo/semantics/altIdentifier/wos/WOS:000303416300006; volume:44; firstpage:483; lastpage:489; numberofpages:6; journal:NATURE GENETICS; http://hdl.handle.net/11562/475153Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84860333083; http://dx.doi.org/10.1038/ng.2232Test

الإتاحة: https://doi.org/10.1038/ng.2232Test
http://hdl.handle.net/11562/475153Test

المؤلفون: Stahl, EA, Wegmann, D, Trynka, G, Gutierrez Achury, J, Do, R, Voight, BF, Kraft, P, Chen, R, Kallberg, HJ, Kurreeman, FA, Diabetes Genetics Replication, Meta analysis Consortium, Myocardial Infarction Genetics Consortium, Kathiresan, S, Wijmenga, C, Gregersen, PK, Alfredsson, L, Siminovitch, KA, Worthington, J, de Bakker, PI, Raychaudhuri, S, Plenge, RM, Scott, LJ, Steinthorsdottir, V, Morris, AP, Dina, C, Welch, RP, Zeggini, E, Huth, C, Aulchenko, YS, Thorleifsson, G, McCulloch, LJ, Ferreira, T, Grallert, H, Amin, N, Wu, G, Willer, CJ, McCarroll, SA, Langenberg, C, Hofmann, OM, Dupuis, J, Qi, L, Segrè, AV, van Hoek, M, Navarro, P, Ardlie, K, Balkau, B, Benediktsson, R, Bennett, AJ, Blagieva, R, Boerwinkle, E, Bonnycastle, LL, Boström, KB, Bravenboer, B, Bumpstead, S, Burtt, NP, Charpentier, G, Chines, PS, Cornelis, M, Couper, DJ, Crawford, G, Doney, AS, Elliott, KS, Elliott, AL, Erdos, MR, Fox, CS, Franklin, CS, Ganser, M, Gieger, C, Grarup, N, Green, T, Griffin, S, Groves, CJ, Guiducci, C, Hadjadj, S, Hassanali, N, Herder, C, Isomaa, B, Jackson, AU, Johnson, PR, Jørgensen, T, Kao, WH, Klopp, N, Kong, A, Kuusisto, J, Lauritzen, T, Li, M, Lieverse, A, Lindgren, CM, Lyssenko, V, Marre, M, Meitinger, T, Midthjell, K, Morken, MA, Narisu, N, Nilsson, P, Owen, KR, Payne, F, Perry, JR, Petersen, AK, Platou, C, Proença, C, Prokopenko, I, Rathmann, W, Rayner, NW, Robertson, NR, Rocheleau, G, Roden, M, Sampson, MJ, Saxena, R, Shields, BM, Shrader, P, Sigurdsson, G, Sparsø, T, Strassburger, K, Stringham, HM, Sun, Q, Swift, AJ, Thorand, B, Tichet, J, Tuomi, T, van Dam, RM, van Haeften, TW, van Herpt, T, van Vliet Ostaptchouk, JV, Walters, GB, Weedon, MN, Witteman, J, Bergman, RN, Cauchi, S, Collins, FS, Gloyn, AL, Gyllensten, U, Hansen, T, Hide, WA, Hitman, GA, Hofman, A, Hunter, DJ, Hveem, K, Laakso, M, Mohlke, KL, Morris, AD, Palmer, CN, Pramstaller, PP, Rudan, I, Sijbrands, E, Stein, LD, Tuomilehto, J, Uitterlinden, A, Walker, M, Wareham, NJ, Watanabe, RM, Abecasis, GR, Boehm, BO, Campbell, H, Daly, MJ, Hattersley, AT, Hu, FB, Meigs, JB, Pankow, JS, Pedersen, O, Wichmann, HE, Barroso, I, Florez, JC, Frayling, TM, Groop, L, Sladek, R, Thorsteinsdottir, U, Wilson, JF, Illig, T, Froguel, P, van Duijn, CM, Stefansson, K, Altshuler, D, Boehnke, M, McCarthy, MI, Williams, G, Nathan, DM, MacRae, CA, O'Donnell, CJ, Ardissino, D, Merlini, PA, Berzuini, C, Peyvandi, F, Tubaro, M, Celli, P, Ferrario, M, Fetiveau, R, Marziliano, N, Casari, G, Galli, M, Ribichini, F, Rossi, M, Bernardi, F, Zonzin, P, Piazza, A, Mannucci, PM, Schwartz, SM, Siscovick, DS, Yee, J, Friedlander, Y, Elosua, R, Marrugat, J, Lucas, G, Subirana, I, Sala, J, Ramos, R, Salomaa, V, Havulinna, AS, Peltonen, L, Melander, O, Berglund, G, Hirschhorn, JN, Asselta, R, Duga, S, Spreafico, M, Musunuru, K, Purcell, S, Surti, A, Gianniny, L, Mirel, D, Parkin, M, Burtt, N, Gabriel, S.B., BERNARDINELLI, LUISA

المساهمون: Stahl, Ea, Wegmann, D, Trynka, G, Gutierrez Achury, J, Do, R, Voight, Bf, Kraft, P, Chen, R, Kallberg, Hj, Kurreeman, Fa, Diabetes Genetics, Replication, Meta analysis, Consortium, Myocardial Infarction Genetics, Consortium, Kathiresan, S, Wijmenga, C, Gregersen, Pk, Alfredsson, L, Siminovitch, Ka, Worthington, J, de Bakker, Pi, Raychaudhuri, S, Plenge, Rm, Scott, Lj, Steinthorsdottir, V, Morris, Ap, Dina, C, Welch, Rp, Zeggini, E, Huth, C, Aulchenko, Y, Thorleifsson, G, Mcculloch, Lj, Ferreira, T, Grallert, H, Amin, N, Wu, G, Willer, Cj, Mccarroll, Sa, Langenberg, C, Hofmann, Om, Dupuis, J, Qi, L, Segrè, Av, van Hoek, M, Navarro, P, Ardlie, K, Balkau, B, Benediktsson, R, Bennett, Aj, Blagieva, R, Boerwinkle, E, Bonnycastle, Ll, Boström, Kb, Bravenboer, B, Bumpstead, S, Burtt, Np, Charpentier, G, Chines, P, Cornelis, M, Couper, Dj, Crawford, G, Doney, A, Elliott, K, Elliott, Al, Erdos, Mr, Fox, C, Franklin, C, Ganser, M, Gieger, C, Grarup, N, Green, T, Griffin, S, Groves, Cj, Guiducci, C, Hadjadj, S, Hassanali, N, Herder, C, Isomaa, B, Jackson, Au, Johnson, Pr, Jørgensen, T, Kao, Wh, Klopp, N, Kong, A, Kuusisto, J, Lauritzen, T, Li, M, Lieverse, A, Lindgren, Cm, Lyssenko, V, Marre, M, Meitinger, T, Midthjell, K, Morken, Ma, Narisu, N, Nilsson, P, Owen, Kr

مصطلحات موضوعية: STATISTICS, GENETICS, MULTI FACTORIAL ILLNESSES, GENOME-WIDE

الوصف: The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method using polygenic risk-score analyses to infer the total liability-scale variance explained by associated GWAS SNPs. Using this method, we estimated that, together, thousands of SNPs from rheumatoid arthritis GWAS explain an additional 20% of disease risk (excluding known associated loci). We further tested this method on datasets for three additional diseases and obtained comparable estimates for celiac disease (43% excluding the major histocompatibility complex), myocardial infarction and coronary artery disease (48%) and type 2 diabetes (49%). Our results are consistent with simulated genetic models in which hundreds of associated loci harbor common causal variants and a smaller number of loci harbor multiple rare causal variants. These analyses suggest that GWAS will continue to be highly productive for the discovery of additional susceptibility loci for common diseases.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22446960; info:eu-repo/semantics/altIdentifier/wos/WOS:000303416300006; volume:44; issue:5; firstpage:483; lastpage:489; numberofpages:7; journal:NATURE GENETICS; http://hdl.handle.net/11571/574547Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84860333083; http://www.nature.com/ng/journal/v44/n5/full/ng.2232.htmlTest

الإتاحة: https://doi.org/10.1038/ng.2232Test
http://hdl.handle.net/11571/574547Test
http://www.nature.com/ng/journal/v44/n5/full/ng.2232.htmlTest

المؤلفون: Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, DIAGRAM Consortium, MAGIC Investigators, Ferrara A, Lu L, Ziegler JT, Sale MM, Divers J, Shriner D, Adeyemo A, Rotimi CN, Ng MC, Langefeld CD, Freedman BI, Bowden DW, Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Boström KB, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI, Soranzo N, Wheeler E, Glazer NL, Bouatia Naji N, Mägi R, Randall J, Johnson T, Elliott P, Rybin D, Henneman P, Dehghan A, Hottenga JJ, Song K, Goel A, Egan JM, Lajunen T, Doney A, Kanoni S, Cavalcanti Proença C, Kumari M, Timpson NJ, Zabena C, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, Roccasecca RM, Pattou F, Sethupathy P, Ariyurek Y, Barter P, Beilby JP, Ben Shlomo Y, Bergmann S, Bochud M, Bonnefond A, Borch Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Crisponi L, Day IN, de Geus EJ, Delplanque J, Fedson AC, Fischer Rosinsky A, Forouhi NG, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Grundy S, Gwilliam R, Hallmans G, Hammond N, Han X, Hartikainen AL, Hayward C, Heath SC, Hercberg S, Hicks AA, Hillman DR, Hingorani AD, Hui J, Hung J, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Mahley R, Mangino M, Manning AK, Martínez Larrad MT, McAteer JB, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Mukherjee S, Naitza S, Neville MJ, Oostra BA, Orrù M, Pakyz R, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rice K, Ripatti S, Rivadeneira F, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Seedorf U, Sharp SJ, Shields B, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Tönjes A, Uitterlinden AG, van Dijk KW, Varma D, Visvikis Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Ward KL, Watkins H, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano Ríos M, Lind L, Palmer LJ, Franks PW, Ebrahim S, Marmot M, Wright AF, Stumvoll M, Hamsten A, Buchanan TA, Valle TT, Rotter JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD, Ferrucci L, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Sladek R., PAOLISSO, Giuseppe

المساهمون: Palmer, Nd, Mcdonough, Cw, Hicks, Pj, Roh, Bh, Wing, Mr, An, S, Hester, Jm, Cooke, Jn, Bostrom, Ma, Rudock, Me, Talbert, Me, Lewis, Jp, Diagram, Consortium, Magic, Investigator, Ferrara, A, Lu, L, Ziegler, Jt, Sale, Mm, Divers, J, Shriner, D, Adeyemo, A, Rotimi, Cn, Ng, Mc, Langefeld, Cd, Freedman, Bi, Bowden, Dw, Voight, Bf, Scott, Lj, Steinthorsdottir, V, Morris, Ap, Dina, C, Welch, Rp, Zeggini, E, Huth, C, Aulchenko, Y, Thorleifsson, G, Mcculloch, Lj, Ferreira, T, Grallert, H, Amin, N, Wu, G, Willer, Cj, Raychaudhuri, S, Mccarroll, Sa, Langenberg, C, Hofmann, Om, Dupuis, J, Qi, L, Segrè, Av, van Hoek, M, Navarro, P, Ardlie, K, Balkau, B, Benediktsson, R, Bennett, Aj, Blagieva, R, Boerwinkle, E, Bonnycastle, Ll, Boström, Kb, Bravenboer, B, Bumpstead, S, Burtt, Np, Charpentier, G, Chines, P, Cornelis, M, Couper, Dj, Crawford, G, Doney, A, Elliott, K, Elliott, Al, Erdos, Mr, Fox, C, Franklin, C, Ganser, M, Gieger, C, Grarup, N, Green, T, Griffin, S, Groves, Cj, Guiducci, C, Hadjadj, S, Hassanali, N, Herder, C, Isomaa, B, Jackson, Au, Johnson, Pr, Jørgensen, T, Kao, Wh, Klopp, N, Kong, A, Kraft, P, Kuusisto, J, Lauritzen, T, Li, M, Lieverse, A, Lindgren, Cm, Lyssenko, V, Marre, M, Meitinger, T, Midthjell, K

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000301070200019; volume:7; issue:1; journal:PLOS ONE; http://hdl.handle.net/11591/163358Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84855405312

الإتاحة: http://hdl.handle.net/11591/163358Test

المؤلفون: Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, Beekman M, Coassin S, Lohman K, Qi L, Kanoni S, Pankow JS, Uh HW, Wu Y, Bidulescu A, Rasmussen Torvik LJ, Greenwood CM, Ladouceur M, Grimsby J, Manning AK, Liu CT, Kooner J, Mooser VE, Vollenweider P, Kapur KA, Chambers J, Wareham NJ, Langenberg C, Frants R, Willems Vandijk K, Oostra BA, Willems SM, Lamina C, Winkler TW, Psaty BM, Tracy RP, Brody J, Chen I, Viikari J, Kähönen M, Pramstaller PP, Evans DM, St Pourcain B, Sattar N, Wood AR, Bandinelli S, Carlson OD, Egan JM, Böhringer S, van Heemst D, Kedenko L, Kristiansson K, Nuotio ML, Loo BM, Harris T, Garcia M, Kanaya A, Haun M, Klopp N, Wichmann HE, Deloukas P, Katsareli E, Couper DJ, Duncan BB, Kloppenburg M, Adair LS, Borja JB, DIAGRAM+ Consortium, MAGIC Consortium, GLGC Investigators, MuTHER Consortium, Wilson JG, Musani S, Guo X, Johnson T, Semple R, Teslovich TM, Allison MA, Redline S, Buxbaum SG, Mohlke KL, Meulenbelt I, Ballantyne CM, Dedoussis GV, Hu FB, Liu Y, Paulweber B, Spector TD, Slagboom PE, Ferrucci L, Jula A, Perola M, Raitakari O, Florez JC, Salomaa V, Eriksson JG, Frayling TM, Hicks AA, Lehtimäki T, Smith GD, Siscovick DS, Kronenberg F, van Duijn C, Loos RJ, Waterworth DM, Meigs JB, Dupuis J, Richards JB, Voight BF, Scott LJ, Steinthorsdottir V, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Hofmann OM, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Boström KB, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Morris AD, Palmer CN, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Pedersen O, Barroso I, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI, Soranzo N, Wheeler E, Glazer NL, Bouatia Naji N, Mägi R, Randall J, Elliott P, Rybin D, Dehghan A, Hottenga JJ, Song K, Goel A, Lajunen T, Doney A, Cavalcanti Proença C, Kumari M, Timpson NJ, Zabena C, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, Roccasecca RM, Pattou F, Sethupathy P, Ariyurek Y, Barter P, Beilby JP, Ben Shlomo Y, Bergmann S, Bochud M, Bonnefond A, Borch Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Crisponi L, Day IN, de Geus EJ, Delplanque J, Fedson AC, Fischer Rosinsky A, Forouhi NG, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Grundy S, Gwilliam R, Hallmans G, Hammond N, Han X, Hartikainen AL, Hayward C, Heath SC, Hercberg S, Hillman DR, Hingorani AD, Hui J, Hung J, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Mahley R, Mangino M, Martínez Larrad MT, McAteer JB, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Mukherjee S, Naitza S, Neville MJ, Orrù M, Pakyz R, Pattaro C, Pearson D, Peden JF, Pedersen NL, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Rice K, Ripatti S, Rivadeneira F, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Seedorf U, Sharp SJ, Shields B, Sigurðsson G, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tönjes A, Uitterlinden AG, van Dijk KW, Varma D, Visvikis Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Ward KL, Watkins H, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC, DIAGRAM Consortium, GIANT Consortium, Global B. Pgen Consortium, Borecki IB, Meneton P, Magnusson PK, Nathan DM, Williams GH, Silander K, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Serrano Ríos M, Lind L, Palmer LJ, Hu FB 1st, Franks PW, Ebrahim S, Marmot M, Wright AF, Stumvoll M, Hamsten A, Procardis Consortium, Buchanan TA, Valle TT, Rotter JI, Penninx BW, Boomsma DI, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Peltonen L, Mooser V, MAGIC investigators, GLGC Consortium, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Chasman DI, Johansen CT, Fouchier SW, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Feitosa MF, Orho Melander M, Melander O, Li X, Cho YS, Go MJ, Kim YJ, Lee JY, Park T, Kim K, Sim X, Ong RT, Croteau Chonka DC, Lange LA, Smith JD, Ziegler A, Zhang W, Zee RY, Whitfield JB, Thompson JR, Surakka I, Smit JH, Sinisalo J, Scott J, Saharinen J, Sabatti C, Rose LM, Roberts R, Rieder M, Parker AN, Pare G, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, McArdle W, Masson D, Martin NG, Marroni F, Lucas G, Luben R, Lokki ML, Lettre G, Launer LJ, Lakatta EG, Laaksonen R, König IR, Khaw KT, Kaplan LM, Johansson Å, Janssens AC, Igl W, Hovingh GK, Hengstenberg C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Groop LC, Gonzalez E, Freimer NB, Erdmann J, Ejebe KG, Döring A, Dominiczak AF, Demissie S, de Faire U, Caulfield MJ, Boekholdt SM, Assimes TL, Quertermous T, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Taylor HA Jr, Gabriel SB, Holm H, Gudnason V, Krauss RM, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Strachan DP, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, Kathiresan S., PAOLISSO, Giuseppe

المساهمون: Dastani, Z, Hivert, Mf, Timpson, N, Perry, Jr, Yuan, X, Scott, Ra, Henneman, P, Heid, Im, Kizer, Jr, Lyytikäinen, Lp, Fuchsberger, C, Tanaka, T, Morris, Ap, Small, K, Isaacs, A, Beekman, M, Coassin, S, Lohman, K, Qi, L, Kanoni, S, Pankow, J, Uh, Hw, Wu, Y, Bidulescu, A, Rasmussen Torvik, Lj, Greenwood, Cm, Ladouceur, M, Grimsby, J, Manning, Ak, Liu, Ct, Kooner, J, Mooser, Ve, Vollenweider, P, Kapur, Ka, Chambers, J, Wareham, Nj, Langenberg, C, Frants, R, Willems Vandijk, K, Oostra, Ba, Willems, Sm, Lamina, C, Winkler, Tw, Psaty, Bm, Tracy, Rp, Brody, J, Chen, I, Viikari, J, Kähönen, M, Pramstaller, Pp, Evans, Dm, St Pourcain, B, Sattar, N, Wood, Ar, Bandinelli, S, Carlson, Od, Egan, Jm, Böhringer, S, van Heemst, D, Kedenko, L, Kristiansson, K, Nuotio, Ml, Loo, Bm, Harris, T, Garcia, M, Kanaya, A, Haun, M, Klopp, N, Wichmann, He, Deloukas, P, Katsareli, E, Couper, Dj, Duncan, Bb, Kloppenburg, M, Adair, L, Borja, Jb, DIAGRAM+, Consortium, Magic, Consortium, Glgc, Investigator, Muther, Consortium, Wilson, Jg, Musani, S, Guo, X, Johnson, T, Semple, R, Teslovich, Tm, Allison, Ma, Redline, S, Buxbaum, Sg, Mohlke, Kl, Meulenbelt, I, Ballantyne, Cm, Dedoussis, Gv, Hu, Fb, Liu, Y, Paulweber, B, Spector, Td, Slagboom, Pe, Ferrucci, L, Jula, A

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000302254800080; volume:8; issue:3; firstpage:e1002607; journal:PLOS GENETICS; http://hdl.handle.net/11591/203883Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84859238629

الإتاحة: http://hdl.handle.net/11591/203883Test

المؤلفون: Myocardial Infarction Genetics Consortium, Kathiresan, S, Voight, BF, Purcell, S, Musunuru, K, Ardissino, D, Mannucci, PM, Anand, S, Engert, JC, Samani, NJ, Schunkert, H, Erdmann, J, Reilly, MP, Rader, DJ, Morgan, T, Spertus, JA, Stoll, M, Girelli, D, McKeown, PP, Patterson, CC, Siscovick, DS, O'Donnell, CJ, Elosua, R, Peltonen, L, Salomaa, V, Schwartz, SM, Melander, O, Altshuler, D, Merlini, PA, Berzuini, C, Bernardinelli, L, Peyvandi, F, Tubaro, M, Celli, P, Ferrario, M, Fetiveau, R, Marziliano, N, Casari, G, Galli, M, Ribichini, F, Rossi, M, Bernardi, F, Zonzin, P, Piazza, A, Yee, J, Friedlander, Y, Marrugat, J, Lucas, G, Subirana, I, Sala, J, Ramos, R, Meigs, JB, Williams, G, Nathan, DM, MacRae, CA, Havulinna, AS, Berglund, G, Hirschhorn, JN, Asselta, R, Duga, S, Spreafico, M, Daly, MJ, Nemesh, J, Korn, JM, McCarroll, SA, Surti, A, Guiducci, C, Gianniny, L, Mirel, D, Parkin, M, Burtt, N, Gabriel, SB, Thompson, JR, Braund, PS, Wright, BJ, Balmforth, AJ, Ball, SG, Hall, AS, Wellcome Trust Case Control Consortium, Linsel-Nitschke, P, Lieb, W, Ziegler, A, König, I, Hengstenberg, C, Fischer, M, Stark, K, Grosshennig, A, Preuss, M, Wichmann, HE, Schreiber, S, Ouwehand, W, Deloukas, P, Scholz, M, Cambien, F, Li, M, Chen, Z, Wilensky, R, Matthai, W, Qasim, A, Hakonarson, HH, Devaney, J, Burnett, MS, Pichard, AD, Kent, KM, Satler, L, Lindsay, JM, Waksman, R, Knouff, CW, Waterworth, DM, Walker, MC, Mooser, V, Epstein, SE, Scheffold, T, Berger, K, Huge, A, Martinelli, N, Olivieri, O, Corrocher, R, McKeown, P, Erdmann, E, König, IR, Hólm, H, Thorleifsson, G, Thorsteinsdottir, U, Stefansson, K, Do, R, Xie, C, Siscovick, D

المصدر: PubMed ; http://www.ncbi.nlm.nih.gov/pubmedTest/

مصطلحات موضوعية: Adult, Age of Onset, Algorithms, Case-Control Studies, Female, Gene Dosage, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Middle Aged, Mutation, Myocardial Infarction, Polymorphism, Single Nucleotide, Risk Factors

الوصف: We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations (9p21, 1p13 near CELSR2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (>1% allele frequency) and none met the pre-specified threshold for replication (P < 10(-3)). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk. ; 19709

وصف الملف: metadata

العلاقة: NAT GENET, 2009, 41 (3), pp. 334-341; http://hdl.handle.net/2381/16802Test; ng.327

الإتاحة: https://doi.org/10.1038/ng.327Test
http://hdl.handle.net/2381/16802Test

المؤلفون: Assimes, TL, Hólm, H, Kathiresan, S, Reilly, MP, Thorleifsson, G, Voight, BF, Erdmann, J, Willenborg, C, Vaidya, D, Xie, C, Patterson, CC, Morgan, TM, Burnett, MS, Li, M, Hlatky, MA, Knowles, JW, Thompson, JR, Absher, D, Iribarren, C, Go, A, Fortmann, SP, Sidney, S, Risch, N, Tang, H, Myers, RM, Berger, K, Stoll, M, Shah, SH, Thorgeirsson, G, Andersen, K, Havulinna, AS, Herrera, JE, Faraday, N, Kim, Y, Kral, BG, Mathias, RA, Ruczinski, I, Suktitipat, B, Wilson, AF, Yanek, LR, Becker, LC, Linsel-Nitschke, P, Lieb, W, König, IR, Hengstenberg, C, Fischer, M, Stark, K, Reinhard, W, Winogradow, J, Grassl, M, Grosshennig, A, Preuss, M, Schreiber, S, Wichmann, HE, Meisinger, C, Yee, J, Friedlander, Y, Do, R, Meigs, JB, Williams, G, Nathan, DM, MacRae, CA, Qu, L, Wilensky, RL, Matthai, WH, Qasim, AN, Hakonarson, H, Pichard, AD, Kent, KM, Satler, L, Lindsay, JM, Waksman, R, Knouff, CW, Waterworth, DM, Walker, MC, Mooser, VE, Marrugat, J, Lucas, G, Subirana, I, Sala, J, Ramos, R, Martinelli, N, Olivieri, O, Trabetti, E, Malerba, G, Pignatti, PF, Guiducci, C, Mirel, D, Parkin, M, Hirschhorn, JN, Asselta, R, Duga, S, Musunuru, K, Daly, MJ, Purcell, S, Eifert, S, Braund, PS, Wright, BJ, Balmforth, AJ, Ball, SG, Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium, Cardiogenics, Ouwehand, WH, Deloukas, P, Scholz, M, Cambien, F, Huge, A, Scheffold, T, Salomaa, V, Girelli, D, Granger, CB, Peltonen, L, McKeown, PP, Altshuler, D, Melander, O, Devaney, JM, Epstein, SE, Rader, DJ, Elosua, R, Engert, JC, Anand, SS, Hall, AS, Ziegler, A, O'Donnell, CJ, Spertus, JA, Siscovick, D, Schwartz, SM, Becker, D, Thorsteinsdottir, U, Stefansson, K, Schunkert, H, Samani, NJ, Quertermous, T

المصدر: PubMed ; http://www.ncbi.nlm.nih.gov/pubmedTest/

مصطلحات موضوعية: Arginine, Case-Control Studies, Coronary Artery Disease, Female, Genome-Wide Association Study, Humans, Internationality, Kinesin, Male, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Tryptophan

الوصف: We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). ; 19583

وصف الملف: metadata

العلاقة: J AM COLL CARDIOL, 2010, 56 (19), pp. 1552-1563; http://hdl.handle.net/2381/16745Test; S0735-1097(10)02780-4

الإتاحة: https://doi.org/10.1016/j.jacc.2010.06.022Test
http://hdl.handle.net/2381/16745Test