737 results on '"Syvanen, A"'
Search Results
202. Corrigendum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- Author
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Heid, Iris M, Jackson, Anne U, Randall, Joshua C, Winkler, Thomas W, Qi, Lu, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Zillikens, M Carola, Speliotes, Elizabeth K, Mägi, Reedik, Workalemahu, Tsegaselassie, White, Charles C, Bouatia-Naji, Nabila, Harris, Tamara B, Berndt, Sonja I, Ingelsson, Erik, Willer, Cristen J, Weedon, Michael N, Luan, Jian'an, Vedantam, Sailaja, Esko, Tõnu, Kilpeläinen, Tuomas O, Kutalik, Zoltán, Li, Shengxu, Monda, Keri L, Dixon, Anna L, Holmes, Christopher C, Kaplan, Lee M, Liang, Liming, Min, Josine L, Moffatt, Miriam F, Molony, Cliona, Nicholson, George, Schadt, Eric E, Zondervan, Krina T, Feitosa, Mary F, Ferreira, Teresa, Allen, Hana Lango, Weyant, Robert J, Wheeler, Eleanor, Wood, Andrew R, Estrada, Karol, Goddard, Michael E, Lettre, Guillaume, Mangino, Massimo, Nyholt, Dale R, Purcell, Shaun, Vernon Smith, Albert, Visscher, Peter M, Yang, Jian, McCarroll, Steven A, Nemesh, James, Voight, Benjamin F, Absher, Devin, Amin, Najaf, Aspelund, Thor, Coin, Lachlan, Glazer, Nicole L, Hayward, Caroline, Heard-Costa, Nancy L, Hottenga, Jouke-Jan, Johansson, Asa, Johnson, Toby, Kaakinen, Marika, Kapur, Karen, Ketkar, Shamika, Knowles, Joshua W, Kraft, Peter, Kraja, Aldi T, Lamina, Claudia, Leitzmann, Michael F, McKnight, Barbara, Morris, Andrew P, Ong, Ken K, Perry, John R B, Peters, Marjolein J, Polasek, Ozren, Prokopenko, Inga, Rayner, Nigel W, Ripatti, Samuli, Rivadeneira, Fernando, Robertson, Neil R, Sanna, Serena, Sovio, Ulla, Surakka, Ida, Teumer, Alexander, van Wingerden, Sophie, Vitart, Veronique, Zhao, Jing Hua, Cavalcanti-Proença, Christine, Chines, Peter S, Fisher, Eva, Kulzer, Jennifer R, Lecoeur, Cecile, Narisu, Narisu, Sandholt, Camilla, Scott, Laura J, Silander, Kaisa, Stark, Klaus, Tammesoo, Mari-Liis, Teslovich, Tanya M, Timpson, Nicholas John, Watanabe, Richard M, Welch, Ryan, Chasman, Daniel I, Cooper, Matthew N, Jansson, John-Olov, Kettunen, Johannes, Lawrence, Robert W, Pellikka, Niina, Perola, Markus, Vandenput, Liesbeth, Alavere, Helene, Almgren, Peter, Atwood, Larry D, Bennett, Amanda J, Biffar, Reiner, Bonnycastle, Lori L, Bornstein, Stefan R, Buchanan, Thomas A, Campbell, Harry, Day, Ian N M, Dei, Mariano, Dörr, Marcus, Elliott, Paul, Erdos, Michael R, Eriksson, Johan G, Freimer, Nelson B, Fu, Mao, Gaget, Stefan, Geus, Eco J C, Gjesing, Anette P, Grallert, Harald, Gräßler, Jürgen, Groves, Christopher J, Guiducci, Candace, Hartikainen, Anna-Liisa, Hassanali, Neelam, Havulinna, Aki S, Herzig, Karl-Heinz, Hicks, Andrew A, Hui, Jennie, Igl, Wilmar, Jousilahti, Pekka, Jula, Antti, Kajantie, Eero, Kinnunen, Leena, Kolcic, Ivana, Koskinen, Seppo, Kovacs, Peter, Kroemer, Heyo K, Krzelj, Vjekoslav, Kuusisto, Johanna, Kvaloy, Kirsti, Laitinen, Jaana, Lantieri, Olivier, Lathrop, G Mark, Lokki, Marja-Liisa, Luben, Robert N, Ludwig, Barbara, McArdle, Wendy L, McCarthy, Anne, Morken, Mario A, Nelis, Mari, Neville, Matt J, Paré, Guillaume, Parker, Alex N, Peden, John F, Pichler, Irene, Pietiläinen, Kirsi H, Platou, Carl G P, Pouta, Anneli, Ridderstråle, Martin, Samani, Nilesh J, Saramies, Jouko, Sinisalo, Juha, Smit, Jan H, Strawbridge, Rona J, Stringham, Heather M, Swift, Amy J, Teder-Laving, Maris, Thomson, Brian, Usala, Gianluca, van Meurs, Joyce B J, van Ommen, Gert-Jan, Vatin, Vincent, Volpato, Claudia B, Wallaschofski, Henri, Walters, G Bragi, Widen, Elisabeth, Wild, Sarah H, Willemsen, Gonneke, Witte, Daniel R, Zgaga, Lina, Zitting, Paavo, Beilby, John P, James, Alan L, Kähönen, Mika, Lehtimäki, Terho, Nieminen, Markku S, Ohlsson, Claes, Palmer, Lyle J, Raitakari, Olli, Ridker, Paul M, Stumvoll, Michael, Tönjes, Anke, Viikari, Jorma, Balkau, Beverley, Ben-Shlomo, Yoav, Bergman, Richard N, Boeing, Heiner, Smith, George Davey, Ebrahim, Shah, Froguel, Philippe, Hansen, Torben, Hengstenberg, Christian, Hveem, Kristian, Isomaa, Bo, Jørgensen, Torben, Karpe, Fredrik, Khaw, Kay-Tee, Laakso, Markku, Lawlor, Debbie A, Marre, Michel, Meitinger, Thomas, Metspalu, Andres, Midthjell, Kristian, Pedersen, Oluf, Salomaa, Veikko, Schwarz, Peter E H, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Valle, Timo T, Wareham, Nicholas J, Arnold, Alice M, Beckmann, Jacques S, Bergmann, Sven, Boerwinkle, Eric, Boomsma, Dorret I, Caulfield, Mark J, Collins, Francis S, Eiriksdottir, Gudny, Gudnason, Vilmundur, Gyllensten, Ulf, Hamsten, Anders, Hattersley, Andrew T, Hofman, Albert, Hu, Frank B, Illig, Thomas, Iribarren, Carlos, Jarvelin, Marjo-Riitta, Kao, W H Linda, Kaprio, Jaakko, Launer, Lenore J, Munroe, Patricia B, Oostra, Ben, Penninx, Brenda W, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rissanen, Aila, Rudan, Igor, Shuldiner, Alan R, Soranzo, Nicole, Spector, Timothy D, Syvanen, Ann-Christine, Uda, Manuela, Uitterlinden, André, Völzke, Henry, Vollenweider, Peter, Wilson, James F, Witteman, Jacqueline C, Wright, Alan F, Abecasis, Gonçalo R, Boehnke, Michael, Borecki, Ingrid B, Deloukas, Panos, Frayling, Timothy M, Groop, Leif C, Haritunians, Talin, Hunter, David J, Kaplan, Robert C, North, Kari E, O'Connell, Jeffrey R, Peltonen, Leena, Schlessinger, David, Strachan, David P, Hirschhorn, Joel N, Assimes, Themistocles L, Wichmann, H-Erich, Thorsteinsdottir, Unnur, van Duijn, Cornelia M, Stefansson, Kari, Cupples, L Adrienne, Loos, Ruth J F, Barroso, Inês, McCarthy, Mark I, Fox, Caroline S, Mohlke, Karen L, Lindgren, Cecilia M, Heid, Iris M, Jackson, Anne U, Randall, Joshua C, Winkler, Thomas W, Qi, Lu, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Zillikens, M Carola, Speliotes, Elizabeth K, Mägi, Reedik, Workalemahu, Tsegaselassie, White, Charles C, Bouatia-Naji, Nabila, Harris, Tamara B, Berndt, Sonja I, Ingelsson, Erik, Willer, Cristen J, Weedon, Michael N, Luan, Jian'an, Vedantam, Sailaja, Esko, Tõnu, Kilpeläinen, Tuomas O, Kutalik, Zoltán, Li, Shengxu, Monda, Keri L, Dixon, Anna L, Holmes, Christopher C, Kaplan, Lee M, Liang, Liming, Min, Josine L, Moffatt, Miriam F, Molony, Cliona, Nicholson, George, Schadt, Eric E, Zondervan, Krina T, Feitosa, Mary F, Ferreira, Teresa, Allen, Hana Lango, Weyant, Robert J, Wheeler, Eleanor, Wood, Andrew R, Estrada, Karol, Goddard, Michael E, Lettre, Guillaume, Mangino, Massimo, Nyholt, Dale R, Purcell, Shaun, Vernon Smith, Albert, Visscher, Peter M, Yang, Jian, McCarroll, Steven A, Nemesh, James, Voight, Benjamin F, Absher, Devin, Amin, Najaf, Aspelund, Thor, Coin, Lachlan, Glazer, Nicole L, Hayward, Caroline, Heard-Costa, Nancy L, Hottenga, Jouke-Jan, Johansson, Asa, Johnson, Toby, Kaakinen, Marika, Kapur, Karen, Ketkar, Shamika, Knowles, Joshua W, Kraft, Peter, Kraja, Aldi T, Lamina, Claudia, Leitzmann, Michael F, McKnight, Barbara, Morris, Andrew P, Ong, Ken K, Perry, John R B, Peters, Marjolein J, Polasek, Ozren, Prokopenko, Inga, Rayner, Nigel W, Ripatti, Samuli, Rivadeneira, Fernando, Robertson, Neil R, Sanna, Serena, Sovio, Ulla, Surakka, Ida, Teumer, Alexander, van Wingerden, Sophie, Vitart, Veronique, Zhao, Jing Hua, Cavalcanti-Proença, Christine, Chines, Peter S, Fisher, Eva, Kulzer, Jennifer R, Lecoeur, Cecile, Narisu, Narisu, Sandholt, Camilla, Scott, Laura J, Silander, Kaisa, Stark, Klaus, Tammesoo, Mari-Liis, Teslovich, Tanya M, Timpson, Nicholas John, Watanabe, Richard M, Welch, Ryan, Chasman, Daniel I, Cooper, Matthew N, Jansson, John-Olov, Kettunen, Johannes, Lawrence, Robert W, Pellikka, Niina, Perola, Markus, Vandenput, Liesbeth, Alavere, Helene, Almgren, Peter, Atwood, Larry D, Bennett, Amanda J, Biffar, Reiner, Bonnycastle, Lori L, Bornstein, Stefan R, Buchanan, Thomas A, Campbell, Harry, Day, Ian N M, Dei, Mariano, Dörr, Marcus, Elliott, Paul, Erdos, Michael R, Eriksson, Johan G, Freimer, Nelson B, Fu, Mao, Gaget, Stefan, Geus, Eco J C, Gjesing, Anette P, Grallert, Harald, Gräßler, Jürgen, Groves, Christopher J, Guiducci, Candace, Hartikainen, Anna-Liisa, Hassanali, Neelam, Havulinna, Aki S, Herzig, Karl-Heinz, Hicks, Andrew A, Hui, Jennie, Igl, Wilmar, Jousilahti, Pekka, Jula, Antti, Kajantie, Eero, Kinnunen, Leena, Kolcic, Ivana, Koskinen, Seppo, Kovacs, Peter, Kroemer, Heyo K, Krzelj, Vjekoslav, Kuusisto, Johanna, Kvaloy, Kirsti, Laitinen, Jaana, Lantieri, Olivier, Lathrop, G Mark, Lokki, Marja-Liisa, Luben, Robert N, Ludwig, Barbara, McArdle, Wendy L, McCarthy, Anne, Morken, Mario A, Nelis, Mari, Neville, Matt J, Paré, Guillaume, Parker, Alex N, Peden, John F, Pichler, Irene, Pietiläinen, Kirsi H, Platou, Carl G P, Pouta, Anneli, Ridderstråle, Martin, Samani, Nilesh J, Saramies, Jouko, Sinisalo, Juha, Smit, Jan H, Strawbridge, Rona J, Stringham, Heather M, Swift, Amy J, Teder-Laving, Maris, Thomson, Brian, Usala, Gianluca, van Meurs, Joyce B J, van Ommen, Gert-Jan, Vatin, Vincent, Volpato, Claudia B, Wallaschofski, Henri, Walters, G Bragi, Widen, Elisabeth, Wild, Sarah H, Willemsen, Gonneke, Witte, Daniel R, Zgaga, Lina, Zitting, Paavo, Beilby, John P, James, Alan L, Kähönen, Mika, Lehtimäki, Terho, Nieminen, Markku S, Ohlsson, Claes, Palmer, Lyle J, Raitakari, Olli, Ridker, Paul M, Stumvoll, Michael, Tönjes, Anke, Viikari, Jorma, Balkau, Beverley, Ben-Shlomo, Yoav, Bergman, Richard N, Boeing, Heiner, Smith, George Davey, Ebrahim, Shah, Froguel, Philippe, Hansen, Torben, Hengstenberg, Christian, Hveem, Kristian, Isomaa, Bo, Jørgensen, Torben, Karpe, Fredrik, Khaw, Kay-Tee, Laakso, Markku, Lawlor, Debbie A, Marre, Michel, Meitinger, Thomas, Metspalu, Andres, Midthjell, Kristian, Pedersen, Oluf, Salomaa, Veikko, Schwarz, Peter E H, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Valle, Timo T, Wareham, Nicholas J, Arnold, Alice M, Beckmann, Jacques S, Bergmann, Sven, Boerwinkle, Eric, Boomsma, Dorret I, Caulfield, Mark J, Collins, Francis S, Eiriksdottir, Gudny, Gudnason, Vilmundur, Gyllensten, Ulf, Hamsten, Anders, Hattersley, Andrew T, Hofman, Albert, Hu, Frank B, Illig, Thomas, Iribarren, Carlos, Jarvelin, Marjo-Riitta, Kao, W H Linda, Kaprio, Jaakko, Launer, Lenore J, Munroe, Patricia B, Oostra, Ben, Penninx, Brenda W, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rissanen, Aila, Rudan, Igor, Shuldiner, Alan R, Soranzo, Nicole, Spector, Timothy D, Syvanen, Ann-Christine, Uda, Manuela, Uitterlinden, André, Völzke, Henry, Vollenweider, Peter, Wilson, James F, Witteman, Jacqueline C, Wright, Alan F, Abecasis, Gonçalo R, Boehnke, Michael, Borecki, Ingrid B, Deloukas, Panos, Frayling, Timothy M, Groop, Leif C, Haritunians, Talin, Hunter, David J, Kaplan, Robert C, North, Kari E, O'Connell, Jeffrey R, Peltonen, Leena, Schlessinger, David, Strachan, David P, Hirschhorn, Joel N, Assimes, Themistocles L, Wichmann, H-Erich, Thorsteinsdottir, Unnur, van Duijn, Cornelia M, Stefansson, Kari, Cupples, L Adrienne, Loos, Ruth J F, Barroso, Inês, McCarthy, Mark I, Fox, Caroline S, Mohlke, Karen L, and Lindgren, Cecilia M
- Published
- 2011
203. Association between Common Variation at the FTO Locus and Changes in Body Mass Index from Infancy to Late Childhood: The Complex Nature of Genetic Association through Growth and Development
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Sovio, U, Mook, Dennis, Warrington, NM, Lawrence, R, Briollais, L, Palmer, CNA, Cecil, J, Sandling, JK, Syvanen, AC, Kaakinen, M, Beilin, LJ, Millwood, IY, Bennett, AJ, Laitinen, J, Pouta, A, Molitor, J, Smith, GD, Ben-Shlomo, Y, Jaddoe, Vincent, Palmer, LJ, Pennell, CE, Cole, TJ, McCarthy, MI, Jarvelin, MR, Timpson, NJ, Sovio, U, Mook, Dennis, Warrington, NM, Lawrence, R, Briollais, L, Palmer, CNA, Cecil, J, Sandling, JK, Syvanen, AC, Kaakinen, M, Beilin, LJ, Millwood, IY, Bennett, AJ, Laitinen, J, Pouta, A, Molitor, J, Smith, GD, Ben-Shlomo, Y, Jaddoe, Vincent, Palmer, LJ, Pennell, CE, Cole, TJ, McCarthy, MI, Jarvelin, MR, and Timpson, NJ
- Abstract
An age-dependent association between variation at the FTO locus and BMI in children has been suggested. We meta-analyzed associations between the FTO locus (rs9939609) and BMI in samples, aged from early infancy to 13 years, from 8 cohorts of European ancestry. We found a positive association between additional minor (A) alleles and BMI from 5.5 years onwards, but an inverse association below age 2.5 years. Modelling median BMI curves for each genotype using the LMS method, we found that carriers of minor alleles showed lower BMI in infancy, earlier adiposity rebound (AR), and higher BMI later in childhood. Differences by allele were consistent with two independent processes: earlier AR equivalent to accelerating developmental age by 2.37% (95% CI 1.87, 2.87, p = 10(-20)) per A allele and a positive age by genotype interaction such that BMI increased faster with age (p = 10 223). We also fitted a linear mixed effects model to relate genotype to the BMI curve inflection points adiposity peak (AP) in infancy and AR. Carriage of two minor alleles at rs9939609 was associated with lower BMI at AP (-0.40% (95% CI: -0.74, -0.06), p = 0.02), higher BMI at AR (0.93% (95% CI: 0.22, 1.64), p = 0.01), and earlier AR (-4.72% (-5.81, -3.63), p = 10 217), supporting cross-sectional results. Overall, we confirm the expected association between variation at rs9939609 and BMI in childhood, but only after an inverse association between the same variant and BMI in infancy. Patterns are consistent with a shift on the developmental scale, which is reflected in association with the timing of AR rather than just a global increase in BMI. Results provide important information about longitudinal gene effects and about the role of FTO in adiposity. The associated shifts in developmental timing have clinical importance with respect to known relationships between AR and both later-life BMI and metabolic disease risk.
- Published
- 2011
204. In search of horizontal gene transfer
- Author
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Michael Syvanen
- Subjects
Risk ,Bacteria ,Gene Transfer, Horizontal ,business.industry ,Biomedical Engineering ,Bioengineering ,Agriculture ,Drug Resistance, Microbial ,Computational biology ,Biology ,Plants ,Applied Microbiology and Biotechnology ,Text mining ,Transformation, Genetic ,Species Specificity ,Horizontal gene transfer ,Molecular Medicine ,business ,Biotechnology - Published
- 1999
205. Genetic Risk Factors in Lupus Nephritis and IgA Nephropathy - No Support of an Overlap
- Author
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Tuyet Vuong, Mai, Gunnarsson, Iva, Lundberg, Sigrid, Svenungsson, Elisabet, Wramner, Lars, Fernström, Anders, Syvanen, Ann-Christine, Thi Do, Lieu, Jacobson, Stefan H., Padyukov, Leonid, Tuyet Vuong, Mai, Gunnarsson, Iva, Lundberg, Sigrid, Svenungsson, Elisabet, Wramner, Lars, Fernström, Anders, Syvanen, Ann-Christine, Thi Do, Lieu, Jacobson, Stefan H., and Padyukov, Leonid
- Abstract
Background: IgA nephropathy (IgAN) and nephritis in Systemic Lupus Erythematosus (SLE) are two common forms of glomerulonephritis in which genetic findings are of importance for disease development. We have recently reported an association of IgAN with variants of TGFB1. In several autoimmune diseases, particularly in SLE, IRF5, STAT4 genes and TRAF1-C5 locus have been shown to be important candidate genes. The aim of this study was to compare genetic variants from the TGFB1, IRF5, STAT4 genes and TRAF1-C5 locus with susceptibility to IgAN and lupus nephritis in two Swedish cohorts. Patients and Methods: We genotyped 13 single nucleotide polymorphisms (SNPs) in four genetic loci in 1252 DNA samples from patients with biopsy proven IgAN or with SLE (with and without nephritis) and healthy age-and sex-matched controls from the same population in Sweden. Results: Genotype and allelic frequencies for SNPs from selected genes did not differ significantly between lupus nephritis patients and SLE patients without nephritis. In addition, haplotype analysis for seven selected SNPs did not reveal a difference for the SLE patient groups with and without nephritis. Moreover, none of these SPNs showed a significant difference between IgAN patients and healthy controls. IRF5 and STAT4 variants remained significantly different between SLE cases and healthy controls. In addition, the data did not show an association of TRAF1-C5 polymorphism with susceptibility to SLE in this Swedish population. Conclusion: Our data do not support an overlap in genetic susceptibility between patients with IgAN or SLE and reveal no specific importance of SLE associated SNPs for the presence of lupus nephritis., Original Publication: Mai Tuyet Vuong, Iva Gunnarsson, Sigrid Lundberg, Elisabet Svenungsson, Lars Wramner, Anders Fernström, Ann-Christine Syvanen, Lieu Thi Do, Stefan H. Jacobson and Leonid Padyukov, Genetic Risk Factors in Lupus Nephritis and IgA Nephropathy - No Support of an Overlap, 2010, PLOS ONE, (5), 5. http://dx.doi.org/10.1371/journal.pone.0010559 Licensee: Public Library of Science (PLoS) http://www.plos.org
- Published
- 2010
- Full Text
- View/download PDF
206. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
- Author
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Heid, I.M., Jackson, A.U., Randall, J.C., Winkler, T.W., Qi, L., Steinthorsdottir, V., Thorleifsson, G., Zillikens, M.C., Speliotes, E.K., Mägi, R., Workalemahu, T., White, C.C., Bouatia-Naji, N., Harris, T.B., Berndt, S.I., Ingelsson, E., Willer, C.J., Weedon, M.N., Luan, J., Vedantam, S., Esko, T., Kilpeläinen, T.O., Kutalik, Z., Li, S., Monda, K.L., Dixon, A.L., Holmes, C.C., Kaplan, L.M., Liang, L., Min, J.L., Moffatt, M.F., Molony, C., Nicholson, G., Schadt, E.E., Zondervan, K.T., Feitosa, M.F., Ferreira, T., Allen, H.L., Weyant, R.J., Wheeler, E., Wood, A.R., MAGIC, Estrada, K., Goddard, M.E., Lettre, G., Mangino, M., Nyholt, D.R., Purcell, S., Smith, A.V., Visscher, P.M., Yang, J., McCarroll, S.A., Nemesh, J., Voight, B.F., Absher, D., Amin, N., Aspelund, T., Coin, L., Glazer, N.L., Hayward, C., Heard-Costa, N.L., Hottenga, J.J., Johansson, A., Johnson, T., Kaakinen, M., Kapur, K., Ketkar, S., Knowles, J.W., Kraft, P., Kraja, A.T., Lamina, C., Leitzmann, M.F., McKnight, B., Morris, A.P., Ong, K.K., Perry, J.R., Peters, M.J., Polasek, O., Prokopenko, I., Rayner, N.W., Ripatti, S., Rivadeneira, F., Robertson, N.R., Sanna, S., Sovio, U., Surakka, I., Teumer, A., van Wingerden, S., Vitart, V., Zhao, J.H., Cavalcanti-Proença, C., Chines, P.S., Fisher, E., Kulzer, J.R., Lecoeur, C., Narisu, N., Sandholt, C., Scott, L.J., Silander, K., Stark, K., Tammesoo, M.L., Teslovich, T.M., Timpson, N.J., Watanabe, R.M., Welch, R., Chasman, D.I., Cooper, M.N., Jansson, J.O., Kettunen, J., Lawrence, R.W., Pellikka, N., Perola, M., Vandenput, L., Alavere, H., Almgren, P., Atwood, L.D., Bennett, A.J., Biffar, R., Bonnycastle, L.L., Bornstein, S.R., Buchanan, T.A., Campbell, H., Day, I.N., Dei, M., Dörr, M., Elliott, P., Erdos, M.R., Eriksson, J.G., Freimer, N.B., Fu, M., Gaget, S., Geus, E.J., Gjesing, A.P., Grallert, H., Grässler, J., Groves, C.J., Guiducci, C., Hartikainen, A.L., Hassanali, N., Havulinna, A.S., Herzig, K.H., Hicks, A.A., Hui, J., Igl, W., Jousilahti, P., Jula, A., Kajantie, E., Kinnunen, L., Kolcic, I., Koskinen, S., Kovacs, P., Kroemer, H.K., Krzelj, V., Kuusisto, J., Kvaloy, K., Laitinen, J., Lantieri, O., Lathrop, G.M., Lokki, M.L., Luben, R.N., Ludwig, B., McArdle, W.L., McCarthy, A., Morken, M.A., Nelis, M., Neville, M.J., Paré, G., Parker, A.N., Peden, J.F., Pichler, I., Pietiläinen, K.H., Platou, C.G., Pouta, A., Ridderstråle, M., Samani, N.J., Saramies, J., Sinisalo, J., Smit, J.H., Strawbridge, R.J., Stringham, H.M., Swift, A.J., Teder-Laving, M., Thomson, B., Usala, G., van Meurs, J.B., van Ommen, G.J., Vatin, V., Volpato, C.B., Wallaschofski, H., Walters, G.B., Widen, E., Wild, S.H., Willemsen, G., Witte, D.R., Zgaga, L., Zitting, P., Beilby, J.P., James, A.L., Kähönen, M., Lehtimäki, T., Nieminen, M.S., Ohlsson, C., Palmer, L.J., Raitakari, O., Ridker, P.M., Stumvoll, M., Tönjes, A., Viikari, J., Balkau, B., Ben-Shlomo, Y., Bergman, R.N., Boeing, H., Smith, G.D., Ebrahim, S., Froguel, P., Hansen, T., Hengstenberg, C., Hveem, K., Isomaa, B., Jørgensen, T., Karpe, F., Khaw, K.T., Laakso, M., Lawlor, D.A., Marre, M., Meitinger, T., Metspalu, A., Midthjell, K., Pedersen, O., Salomaa, V., Schwarz, P.E., Tuomi, T., Tuomilehto, J., Valle, T.T., Wareham, N.J., Arnold, A.M., Beckmann, J.S., Bergmann, S., Boerwinkle, E., Boomsma, D.I., Caulfield, M.J., Collins, F.S., Eiriksdottir, G., Gudnason, V., Gyllensten, U., Hamsten, A., Hattersley, A.T., Hofman, A., Hu, F.B., Illig, T., Iribarren, C., Jarvelin, M.R., Kao, W.H., Kaprio, J., Launer, L.J., Munroe, P.B., Oostra, B., Penninx, B.W., Pramstaller, P.P., Psaty, B.M., Quertermous, T., Rissanen, A., Rudan, I., Shuldiner, A.R., Soranzo, N., Spector, T.D., Syvanen, A.C., Uda, M., Uitterlinden, A., Völzke, H., Vollenweider, P., Wilson, J.F., Witteman, J.C., Wright, A.F., Abecasis, G.R., Boehnke, M., Borecki, I.B., Deloukas, P., Frayling, T.M., Groop, L.C., Haritunians, T., Hunter, D.J., Kaplan, R.C., North, K.E., O'Connell, J.R., Peltonen, L., Schlessinger, D., Strachan, D.P., Hirschhorn, J.N., Assimes, T.L., Wichmann, H.E., Thorsteinsdottir, U., van Duijn, C.M., Stefansson, K., Cupples, L.A., Loos, R.J., Barroso, I., McCarthy, M.I., Fox, C.S., Mohlke, K.L., Lindgren, C.M., Heid, I.M., Jackson, A.U., Randall, J.C., Winkler, T.W., Qi, L., Steinthorsdottir, V., Thorleifsson, G., Zillikens, M.C., Speliotes, E.K., Mägi, R., Workalemahu, T., White, C.C., Bouatia-Naji, N., Harris, T.B., Berndt, S.I., Ingelsson, E., Willer, C.J., Weedon, M.N., Luan, J., Vedantam, S., Esko, T., Kilpeläinen, T.O., Kutalik, Z., Li, S., Monda, K.L., Dixon, A.L., Holmes, C.C., Kaplan, L.M., Liang, L., Min, J.L., Moffatt, M.F., Molony, C., Nicholson, G., Schadt, E.E., Zondervan, K.T., Feitosa, M.F., Ferreira, T., Allen, H.L., Weyant, R.J., Wheeler, E., Wood, A.R., MAGIC, Estrada, K., Goddard, M.E., Lettre, G., Mangino, M., Nyholt, D.R., Purcell, S., Smith, A.V., Visscher, P.M., Yang, J., McCarroll, S.A., Nemesh, J., Voight, B.F., Absher, D., Amin, N., Aspelund, T., Coin, L., Glazer, N.L., Hayward, C., Heard-Costa, N.L., Hottenga, J.J., Johansson, A., Johnson, T., Kaakinen, M., Kapur, K., Ketkar, S., Knowles, J.W., Kraft, P., Kraja, A.T., Lamina, C., Leitzmann, M.F., McKnight, B., Morris, A.P., Ong, K.K., Perry, J.R., Peters, M.J., Polasek, O., Prokopenko, I., Rayner, N.W., Ripatti, S., Rivadeneira, F., Robertson, N.R., Sanna, S., Sovio, U., Surakka, I., Teumer, A., van Wingerden, S., Vitart, V., Zhao, J.H., Cavalcanti-Proença, C., Chines, P.S., Fisher, E., Kulzer, J.R., Lecoeur, C., Narisu, N., Sandholt, C., Scott, L.J., Silander, K., Stark, K., Tammesoo, M.L., Teslovich, T.M., Timpson, N.J., Watanabe, R.M., Welch, R., Chasman, D.I., Cooper, M.N., Jansson, J.O., Kettunen, J., Lawrence, R.W., Pellikka, N., Perola, M., Vandenput, L., Alavere, H., Almgren, P., Atwood, L.D., Bennett, A.J., Biffar, R., Bonnycastle, L.L., Bornstein, S.R., Buchanan, T.A., Campbell, H., Day, I.N., Dei, M., Dörr, M., Elliott, P., Erdos, M.R., Eriksson, J.G., Freimer, N.B., Fu, M., Gaget, S., Geus, E.J., Gjesing, A.P., Grallert, H., Grässler, J., Groves, C.J., Guiducci, C., Hartikainen, A.L., Hassanali, N., Havulinna, A.S., Herzig, K.H., Hicks, A.A., Hui, J., Igl, W., Jousilahti, P., Jula, A., Kajantie, E., Kinnunen, L., Kolcic, I., Koskinen, S., Kovacs, P., Kroemer, H.K., Krzelj, V., Kuusisto, J., Kvaloy, K., Laitinen, J., Lantieri, O., Lathrop, G.M., Lokki, M.L., Luben, R.N., Ludwig, B., McArdle, W.L., McCarthy, A., Morken, M.A., Nelis, M., Neville, M.J., Paré, G., Parker, A.N., Peden, J.F., Pichler, I., Pietiläinen, K.H., Platou, C.G., Pouta, A., Ridderstråle, M., Samani, N.J., Saramies, J., Sinisalo, J., Smit, J.H., Strawbridge, R.J., Stringham, H.M., Swift, A.J., Teder-Laving, M., Thomson, B., Usala, G., van Meurs, J.B., van Ommen, G.J., Vatin, V., Volpato, C.B., Wallaschofski, H., Walters, G.B., Widen, E., Wild, S.H., Willemsen, G., Witte, D.R., Zgaga, L., Zitting, P., Beilby, J.P., James, A.L., Kähönen, M., Lehtimäki, T., Nieminen, M.S., Ohlsson, C., Palmer, L.J., Raitakari, O., Ridker, P.M., Stumvoll, M., Tönjes, A., Viikari, J., Balkau, B., Ben-Shlomo, Y., Bergman, R.N., Boeing, H., Smith, G.D., Ebrahim, S., Froguel, P., Hansen, T., Hengstenberg, C., Hveem, K., Isomaa, B., Jørgensen, T., Karpe, F., Khaw, K.T., Laakso, M., Lawlor, D.A., Marre, M., Meitinger, T., Metspalu, A., Midthjell, K., Pedersen, O., Salomaa, V., Schwarz, P.E., Tuomi, T., Tuomilehto, J., Valle, T.T., Wareham, N.J., Arnold, A.M., Beckmann, J.S., Bergmann, S., Boerwinkle, E., Boomsma, D.I., Caulfield, M.J., Collins, F.S., Eiriksdottir, G., Gudnason, V., Gyllensten, U., Hamsten, A., Hattersley, A.T., Hofman, A., Hu, F.B., Illig, T., Iribarren, C., Jarvelin, M.R., Kao, W.H., Kaprio, J., Launer, L.J., Munroe, P.B., Oostra, B., Penninx, B.W., Pramstaller, P.P., Psaty, B.M., Quertermous, T., Rissanen, A., Rudan, I., Shuldiner, A.R., Soranzo, N., Spector, T.D., Syvanen, A.C., Uda, M., Uitterlinden, A., Völzke, H., Vollenweider, P., Wilson, J.F., Witteman, J.C., Wright, A.F., Abecasis, G.R., Boehnke, M., Borecki, I.B., Deloukas, P., Frayling, T.M., Groop, L.C., Haritunians, T., Hunter, D.J., Kaplan, R.C., North, K.E., O'Connell, J.R., Peltonen, L., Schlessinger, D., Strachan, D.P., Hirschhorn, J.N., Assimes, T.L., Wichmann, H.E., Thorsteinsdottir, U., van Duijn, C.M., Stefansson, K., Cupples, L.A., Loos, R.J., Barroso, I., McCarthy, M.I., Fox, C.S., Mohlke, K.L., and Lindgren, C.M.
- Abstract
Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
- Published
- 2010
207. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- Author
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Heid, I.M. (Iris), Jackson, A.U. (Anne), Randall, J.C. (Joshua), Winkler, T.W. (Thomas), Qi, L. (Lu), Ssteinthorsdottir, V. (Valgerdur), Tthorleifsson, G. (Ggudmar), Zillikens, M.C. (Carola), Sspeliotes, E.K. (Eelizabeth), Mägi, R. (Reedik), Workalemahu, T. (Tsegaselassie), White, C.C. (Charles), Bouatia-Naji, N. (Nabila), Harris, T.B. (Tamara), Berndt, S.I. (Sonja), Ingelsson, E. (Erik), Willer, C.J. (Cristen), Luan, J., Vedantam, S. (Sailaja), Eesko, T. (Tõnu), Kilpeläinen, T.O. (Tuomas), Kutalik, Z. (Zoltán), Li, S. (Shengxu), Monda, K.L. (Keri), Dixon, A.L. (Anna), Holmes, C. (Christopher), Kaplan, R.C. (Robert), Liang, L. (Liming), Min, J. (Josine), Moffatt, M.F. (Miriam), Molony, C. (Cliona), Nicholson, G. (Ggeorge), Sschadt, E.E. (Eeric), Zondervan, K.T. (Krina), Feitosa, M.F. (Mary Furlan), Ferreira, T. (Teresa), Allen, H.L., Weyant, R.J. (Robert), Wheeler, E. (Eleanor), Wood, A.R. (Andrew), Eestrada, K. (Karol), Goddard, M.E. (Michael), Lettre, G. (Guillaume), Mangino, M. (Massimo), Nyholt, D.R. (Dale), Purcell, S. (Shaun), Ssmith, A.V., Visscher, P.M. (Peter), Yang, J. (Joanna), McCcarroll, S.A. (Ssteven), Nemesh, J. (James), Voight, B.F. (Benjamin), Absher, D. (Devin), Amin, N. (Najaf), Aspelund, T. (Thor), Coin, L. (Lachlan), Glazer, N.L. (Nicole), Hayward, C. (Caroline), Heard-Ccosta, N. (Nancy), Hottenga, J.J. (Jouke Jan), Johansson, A. (Åsa), Johnson, T. (Toby), Kaakinen, M. (Marika), Kapur, K. (Karen), Ketkar, S. (Shamika), Knowles, J.W. (Joshua), Kraft, P. (Peter), Kraja, A. (Aldi), Lamina, C. (Claudia), Leitzmann, M.F. (Michael), McKknight, B. (Barbara), Morris, A.D. (Andrew), Oong, K. (Ken), Perry, J.R.B. (John), Peters, M.J. (Marjolein), Polasek, O. (Ozren), Prokopenko, I. (Inga), Rayner, N.W. (Nigel William), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Robertson, N.R. (Neil), Sanna, S. (Serena), Sovio, U. (Ulla), Surakka, I. (Ida), Teumer, A. (Alexander), Wingerden, S. (Sophie) van, Vitart, V. (Veronique), Zhao, J.H. (Jing Hua), Cavalcanti-Proença, C. (Christine), Chines, P.S. (Peter), Fisher, E. (Eeva), Kulzer, J.R. (Jennifer), Lecoeur, C. (Cécile), Narisu, N. (Narisu), Sandholt, C. (Camilla), Scott, L.J. (Laura), Silander, K. (Kaisa), Stark, K. (Klaus), Tammesoo, M.L., Teslovich, T.M. (Tanya), Timpson, N.J. (Nicholas), Welch, R.P. (Ryan), Chasman, D.I. (Daniel), Cooper, M.N. (Matthew), Jansson, J.O., Kettunen, J. (Johannes), Wlawrence, R. (Robert), Pellikka, N. (Niina), Perola, M. (Markus), Vandenput, L. (Liesbeth), Alavere, H. (Helene), Almgren, P. (Peter), Atwood, L.D. (Larry), Bennett, A.J. (Amanda), Biffar, R. (Reiner), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan), Buchanan, T.A. (Thomas), Campbell, H. (Harry), Day, I.N.M. (Ian), Dei, M. (Mariano), Dörr, M. (Marcus), Eelliott, P. (Paul), Eerdos, M.R. (Micheal), Eeriksson, J.G. (Johan), Freimer, N.B. (Nelson), Fu, M. (Mao), Gaget, S. (Stefan), Geus, E.J.C. (Eco) de, Gjesing, A.P. (Anette), Grallert, H. (Harald), Gräßler, J. (Jürgen), Groves, C.J. (Christopher), Guiducci, C. (Candace), Hartikainen, A.L., Hassanali, N. (Neelam), Havulinna, A.S. (Aki), Herzig, K.H., Hicks, A.A. (Andrew), Hui, J. (Jennie), Igl, W. (Wilmar), Jousilahti, P. (Pekka), Jula, A. (Antti), Kajantie, E. (Eero), Kinnunen, L. (Leena), Kolcic, I. (Ivana), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kroemer, H.K. (Heyo), Krzelj, V. (Vjekoslav), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Laitinen, J. (Jaana), Lantieri, O. (Olivier), Lathrop, G.M. (Mark), Lokki, M.L., Luben, R.N. (Robert), Ludwig, B. (Barbara), McArdle, W.L. (Wendy), McCcarthy, A. (Anne), Morken, M.A. (Mario), Nelis, M. (Mari), Neville, M.J. (Matthew), Paré, G. (Guillaume), Parker, A.N. (Alex), Peden, J. (John), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Platou, C.P. (Carl), Pouta, A. (Anneli), Ridderstråle, M. (Martin), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sinisalo, J. (Juha), Smit, J.H. (Jan), Strawbridge, R.J. (Rona), Stringham, H.M. (Heather), Swift, A.J. (Amy), Teder-Llaving, M. (Maris), Thomson, B. (Brian), Usala, G., Meurs, J.B.J. (Joyce) van, Ommen, G.J. (Gert) van, Vatin, V. (Vincent), Volpato, C.B., Wallaschofski, H. (Henri), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Witte, D.R. (Deniel), Zgaga, L. (Lina), Zitting, P. (Paavo), Beilby, J.P. (John), James, A. (Alan), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Nieminen, M.S. (Markku), Ohlsson, C. (Claes), Palmer, C. (Cameron), Raitakari, O. (Olli), Ridker, P.M. (Paul), Stumvoll, M. (Michael), Tönjes, A. (Anke), Viikari, J. (Jorma), Balkau, B. (Beverley), Ben-Shlomo, Y., Bergman, R.N. (Richard), Boeing, H. (Heiner), Smith, A.V. (Albert Vernon), Eebrahim, S. (Shah), Froguel, P. (Philippe), Hansen, T. (Torben), Hengstenberg, C. (Christian), Hveem, K. (Kristian), Isomaa, B. (Bo), Jørgensen, T. (Torben), Karpe, F. (Fredrik), Khaw, K-T. (Kay-Tee), Laakso, M. (Markku), Lawlor, D.A. (Debbie), Marre, M. (Michel), Meitinger, T. (Thomas), Metspalu, A. (Andres), Midthjell, K. (Kristian), Pedersen, O. (Oluf), Salomaa, V. (Veikko), Schwarz, P.E.H. (Peter), Tuomi, T. (Tiinamaija), Tuomilehto, J. (Jaakko), Valle, T.T. (Timo), Wareham, N.J. (Nick), Arnold, A.M. (Alice), Beckmann, J.S. (Jacques), Bergmann, S.M. (Sven), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Collins, F.S. (Francis), Eeiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Hattersley, A.T. (Andrew), Hofman, A. (Albert), Hu, F.B. (Frank), Illig, T. (Thomas), Iribarren, C. (Carlos), Järvelin, M.R., Kao, W.H.L. (Wen), Kaprio, J. (Jaakko), Launer, L.J. (Lenore), Munroe, P. (Patricia), Oostra, B.A. (Ben), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Quertermous, T. (Thomas), Rissanen, A. (Aila), Rudan, I. (Igor), Shuldiner, A.R. (Alan), Soranzo, N. (Nicole), Spector, T.D. (Timothy), Syvanen, A.C., Uda, M. (Manuela), Uitterlinden, A.G. (André), Völzke, H. (Henry), Vollenweider, P. (Peter), Wilson, J.F. (James), Witteman, J.C.M. (Jacqueline), Wright, A.F. (Alan), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D.J. (David), North, K.E. (Kari), O'Cconnell, J.R. (Jeffrey), Peltonen, L. (Leena Johanna), Schlessinger, D., Strachan, D.P. (David), Hirschhorn, J.N. (Joel), Assimes, T.L. (Themistocles), Wichmann, H.E. (Heinz Erich), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Stefansson, K. (Kari), Cupples, L.A. (Adrienne), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Fox, C.S. (Caroline), Mohlke, K.L. (Karen), Lindgren, C.M. (Cecilia), Watanabe, R.M. (Richard), Weedon, M.N. (Michael), Heid, I.M. (Iris), Jackson, A.U. (Anne), Randall, J.C. (Joshua), Winkler, T.W. (Thomas), Qi, L. (Lu), Ssteinthorsdottir, V. (Valgerdur), Tthorleifsson, G. (Ggudmar), Zillikens, M.C. (Carola), Sspeliotes, E.K. (Eelizabeth), Mägi, R. (Reedik), Workalemahu, T. (Tsegaselassie), White, C.C. (Charles), Bouatia-Naji, N. (Nabila), Harris, T.B. (Tamara), Berndt, S.I. (Sonja), Ingelsson, E. (Erik), Willer, C.J. (Cristen), Luan, J., Vedantam, S. (Sailaja), Eesko, T. (Tõnu), Kilpeläinen, T.O. (Tuomas), Kutalik, Z. (Zoltán), Li, S. (Shengxu), Monda, K.L. (Keri), Dixon, A.L. (Anna), Holmes, C. (Christopher), Kaplan, R.C. (Robert), Liang, L. (Liming), Min, J. (Josine), Moffatt, M.F. (Miriam), Molony, C. (Cliona), Nicholson, G. (Ggeorge), Sschadt, E.E. (Eeric), Zondervan, K.T. (Krina), Feitosa, M.F. (Mary Furlan), Ferreira, T. (Teresa), Allen, H.L., Weyant, R.J. (Robert), Wheeler, E. (Eleanor), Wood, A.R. (Andrew), Eestrada, K. (Karol), Goddard, M.E. (Michael), Lettre, G. (Guillaume), Mangino, M. (Massimo), Nyholt, D.R. (Dale), Purcell, S. (Shaun), Ssmith, A.V., Visscher, P.M. (Peter), Yang, J. (Joanna), McCcarroll, S.A. (Ssteven), Nemesh, J. (James), Voight, B.F. (Benjamin), Absher, D. (Devin), Amin, N. (Najaf), Aspelund, T. (Thor), Coin, L. (Lachlan), Glazer, N.L. (Nicole), Hayward, C. (Caroline), Heard-Ccosta, N. (Nancy), Hottenga, J.J. (Jouke Jan), Johansson, A. (Åsa), Johnson, T. (Toby), Kaakinen, M. (Marika), Kapur, K. (Karen), Ketkar, S. (Shamika), Knowles, J.W. (Joshua), Kraft, P. (Peter), Kraja, A. (Aldi), Lamina, C. (Claudia), Leitzmann, M.F. (Michael), McKknight, B. (Barbara), Morris, A.D. (Andrew), Oong, K. (Ken), Perry, J.R.B. (John), Peters, M.J. (Marjolein), Polasek, O. (Ozren), Prokopenko, I. (Inga), Rayner, N.W. (Nigel William), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Robertson, N.R. (Neil), Sanna, S. (Serena), Sovio, U. (Ulla), Surakka, I. (Ida), Teumer, A. (Alexander), Wingerden, S. (Sophie) van, Vitart, V. (Veronique), Zhao, J.H. (Jing Hua), Cavalcanti-Proença, C. (Christine), Chines, P.S. (Peter), Fisher, E. (Eeva), Kulzer, J.R. (Jennifer), Lecoeur, C. (Cécile), Narisu, N. (Narisu), Sandholt, C. (Camilla), Scott, L.J. (Laura), Silander, K. (Kaisa), Stark, K. (Klaus), Tammesoo, M.L., Teslovich, T.M. (Tanya), Timpson, N.J. (Nicholas), Welch, R.P. (Ryan), Chasman, D.I. (Daniel), Cooper, M.N. (Matthew), Jansson, J.O., Kettunen, J. (Johannes), Wlawrence, R. (Robert), Pellikka, N. (Niina), Perola, M. (Markus), Vandenput, L. (Liesbeth), Alavere, H. (Helene), Almgren, P. (Peter), Atwood, L.D. (Larry), Bennett, A.J. (Amanda), Biffar, R. (Reiner), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan), Buchanan, T.A. (Thomas), Campbell, H. (Harry), Day, I.N.M. (Ian), Dei, M. (Mariano), Dörr, M. (Marcus), Eelliott, P. (Paul), Eerdos, M.R. (Micheal), Eeriksson, J.G. (Johan), Freimer, N.B. (Nelson), Fu, M. (Mao), Gaget, S. (Stefan), Geus, E.J.C. (Eco) de, Gjesing, A.P. (Anette), Grallert, H. (Harald), Gräßler, J. (Jürgen), Groves, C.J. (Christopher), Guiducci, C. (Candace), Hartikainen, A.L., Hassanali, N. (Neelam), Havulinna, A.S. (Aki), Herzig, K.H., Hicks, A.A. (Andrew), Hui, J. (Jennie), Igl, W. (Wilmar), Jousilahti, P. (Pekka), Jula, A. (Antti), Kajantie, E. (Eero), Kinnunen, L. (Leena), Kolcic, I. (Ivana), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kroemer, H.K. (Heyo), Krzelj, V. (Vjekoslav), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Laitinen, J. (Jaana), Lantieri, O. (Olivier), Lathrop, G.M. (Mark), Lokki, M.L., Luben, R.N. (Robert), Ludwig, B. (Barbara), McArdle, W.L. (Wendy), McCcarthy, A. (Anne), Morken, M.A. (Mario), Nelis, M. (Mari), Neville, M.J. (Matthew), Paré, G. (Guillaume), Parker, A.N. (Alex), Peden, J. (John), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Platou, C.P. (Carl), Pouta, A. (Anneli), Ridderstråle, M. (Martin), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sinisalo, J. (Juha), Smit, J.H. (Jan), Strawbridge, R.J. (Rona), Stringham, H.M. (Heather), Swift, A.J. (Amy), Teder-Llaving, M. (Maris), Thomson, B. (Brian), Usala, G., Meurs, J.B.J. (Joyce) van, Ommen, G.J. (Gert) van, Vatin, V. (Vincent), Volpato, C.B., Wallaschofski, H. (Henri), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Witte, D.R. (Deniel), Zgaga, L. (Lina), Zitting, P. (Paavo), Beilby, J.P. (John), James, A. (Alan), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Nieminen, M.S. (Markku), Ohlsson, C. (Claes), Palmer, C. (Cameron), Raitakari, O. (Olli), Ridker, P.M. (Paul), Stumvoll, M. (Michael), Tönjes, A. (Anke), Viikari, J. (Jorma), Balkau, B. (Beverley), Ben-Shlomo, Y., Bergman, R.N. (Richard), Boeing, H. (Heiner), Smith, A.V. (Albert Vernon), Eebrahim, S. (Shah), Froguel, P. (Philippe), Hansen, T. (Torben), Hengstenberg, C. (Christian), Hveem, K. (Kristian), Isomaa, B. (Bo), Jørgensen, T. (Torben), Karpe, F. (Fredrik), Khaw, K-T. (Kay-Tee), Laakso, M. (Markku), Lawlor, D.A. (Debbie), Marre, M. (Michel), Meitinger, T. (Thomas), Metspalu, A. (Andres), Midthjell, K. (Kristian), Pedersen, O. (Oluf), Salomaa, V. (Veikko), Schwarz, P.E.H. (Peter), Tuomi, T. (Tiinamaija), Tuomilehto, J. (Jaakko), Valle, T.T. (Timo), Wareham, N.J. (Nick), Arnold, A.M. (Alice), Beckmann, J.S. (Jacques), Bergmann, S.M. (Sven), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Collins, F.S. (Francis), Eeiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Hattersley, A.T. (Andrew), Hofman, A. (Albert), Hu, F.B. (Frank), Illig, T. (Thomas), Iribarren, C. (Carlos), Järvelin, M.R., Kao, W.H.L. (Wen), Kaprio, J. (Jaakko), Launer, L.J. (Lenore), Munroe, P. (Patricia), Oostra, B.A. (Ben), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Quertermous, T. (Thomas), Rissanen, A. (Aila), Rudan, I. (Igor), Shuldiner, A.R. (Alan), Soranzo, N. (Nicole), Spector, T.D. (Timothy), Syvanen, A.C., Uda, M. (Manuela), Uitterlinden, A.G. (André), Völzke, H. (Henry), Vollenweider, P. (Peter), Wilson, J.F. (James), Witteman, J.C.M. (Jacqueline), Wright, A.F. (Alan), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D.J. (David), North, K.E. (Kari), O'Cconnell, J.R. (Jeffrey), Peltonen, L. (Leena Johanna), Schlessinger, D., Strachan, D.P. (David), Hirschhorn, J.N. (Joel), Assimes, T.L. (Themistocles), Wichmann, H.E. (Heinz Erich), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Stefansson, K. (Kari), Cupples, L.A. (Adrienne), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Fox, C.S. (Caroline), Mohlke, K.L. (Karen), Lindgren, C.M. (Cecilia), Watanabe, R.M. (Richard), and Weedon, M.N. (Michael)
- Abstract
Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9-10-9 to P = 1.8-10-40) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9-10-3 to P = 1.2-10-13). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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- 2010
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208. Genetic Study of IgA Nephropathy and Lupus Nephritis: No Overlap in Genetic Risk Factors in CLINICAL IMMUNOLOGY, vol 135, issue , pp S114-S114
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Vuong, Mai, Gunnarsson, Iva, Lundberg, Sigrid, Wramner, Lars, Fernström, Anders, Syvanen, Ann-Christine, Do, Lieu, Jacobson, Stefan, Padyukov, Leonid, Vuong, Mai, Gunnarsson, Iva, Lundberg, Sigrid, Wramner, Lars, Fernström, Anders, Syvanen, Ann-Christine, Do, Lieu, Jacobson, Stefan, and Padyukov, Leonid
- Abstract
n/a
- Published
- 2010
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209. Variations in folate pathway genes are associated with unexplained female infertility
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Altmae, Signe, Stavreus-Evers, Anneli, Ruiz, Jonatan R., Laanpere, Margit, Syvanen, Tiina, Yngve, Agneta, Salumets, Andres, Nilsson, Torbjorn K., Altmae, Signe, Stavreus-Evers, Anneli, Ruiz, Jonatan R., Laanpere, Margit, Syvanen, Tiina, Yngve, Agneta, Salumets, Andres, and Nilsson, Torbjorn K.
- Abstract
Objective: To investigate associations between folate-metabolizing gene variations, folate status, and unexplained female infertility. Design: An association study. Setting: Hospital-based IVF unit and university-affiliated reproductive research laboratories. Patient(s): Seventy-one female patients with unexplained infertility. Intervention(s): Blood samples for polymorphism genotyping and homocysteine, vitamin B12, and folate measurements. Main Outcome Measure(s): Allele and genotype frequencies of the following polymorphisms: 5,10-methylenetetra-hydrofolate reductase (MTHFR) 677C/T, 1298A/C, and 1793G/A, folate receptor 1 (FOLR1) 1314G/A, 1816delC, 1841G/A, and 1928C/T, transcobalamin II (TCN2) 776C/G, cystathionase (CTH) 1208G/T and solute carrier family 19, member 1 (SLC19A1) 80G/A, and concentrations of plasma homocysteine, vitamin B12, and serum folate. Result(s): MTHFR genotypes 677CT and 1793GA, as well as 1793 allele A were significantly more frequent among controls than in patients. The common MTHFR wild-type haplotype (677, 1298, 1793) CAG was less prevalent, whereas the rare haplotype CCA was more frequent in the general population than among infertility patients. The frequency of SLC19A1 80G/A genotypes differed significantly between controls and patients and the A allele was more common in the general population than in infertile women. Plasma homocysteine concentrations were influenced by CTH 1208G/T polymorphism among infertile women. Conclusion(s): Polymorphisms in folate pathway genes could be one reason for fertility complications in some women with unexplained infertility. (Fertil Steril (R) 2010;94:130-7. (C) 2010 by American Society for Reproductive Medicine.)
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- 2010
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210. Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjogrens syndrome
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Nordmark, G, Kristjansdottir, G, Theander, E, Eriksson, Per, Brun, J G, Wang, C, Padyukov, L, Truedsson, L, Alm, G, Eloranta, M-L, Jonsson, R, Ronnblom, L, Syvanen, A-C, Nordmark, G, Kristjansdottir, G, Theander, E, Eriksson, Per, Brun, J G, Wang, C, Padyukov, L, Truedsson, L, Alm, G, Eloranta, M-L, Jonsson, R, Ronnblom, L, and Syvanen, A-C
- Abstract
Primary Sjogrens syndrome (SS) shares many features with systemic lupus erythematosus (SLE). Here we investigated the association of the three major polymorphisms in IRF5 and STAT4 found to be associated with SLE, in patients from Sweden and Norway with primary SS. These polymorphisms are a 5-bp CGGGG indel in the promoter of IRF5, the single nucleotide polymorphism (SNP) rs10488631 downstream of IRF5 and the STAT4 SNP rs7582694, which tags the major risk haplotype of STAT4. We observed strong signals for association between all three polymorphisms and primary SS, with odds ratios (ORs) > 1.4 and P-values < 0.01. We also found a strong additive effect of the three risk alleles of IRF5 and STAT4 with an overall significance between the number of risk alleles and primary SS of P = 2.5 x 10(-9). The OR for primary SS increased in an additive manner, with an average increase in OR of 1.78. For carriers of two risk alleles, the OR for primary SS is 1.43, whereas carriers of five risk alleles have an OR of 6.78. IRF5 and STAT4 are components of the type I IFN system, and our findings emphasize the importance of this system in the etiopathogenesis of primary SS.
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- 2009
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211. Genome-wide association study identifies eight loci associated with blood pressure
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Newton-Cheh, C, Johnson, T, Gateva, V, Tobin, MD, Bochud, M, Coin, L, Najjar, SS, Zhao, JH, Heath, SC, Eyheramendy, S, Papadakis, K, Voight, BF, Scott, LJ, Zhang, F, Farrall, M, Tanaka, T, Wallace, C, Chambers, JC, Khaw, K-T, Nilsson, P, van der Harst, P, Polidoro, S, Grobbee, DE, Onland-Moret, NC, Bots, ML, Wain, LV, Elliott, KS, Teumer, A, Luan, J, Lucas, G, Kuusisto, J, Burton, PR, Hadley, D, McArdle, WL, Brown, M, Dominiczak, A, Newhouse, SJ, Samani, NJ, Webster, J, Zeggini, E, Beckmann, JS, Bergmann, S, Lim, N, Song, K, Vollenweider, P, Waeber, G, Waterworth, DM, Yuan, X, Groop, L, Orho-Melander, M, Allione, A, Di Gregorio, A, Guarrera, S, Panico, S, Ricceri, F, Romanazzi, V, Sacerdote, C, Vineis, P, Barroso, I, Sandhu, MS, Luben, RN, Crawford, GJ, Jousilahti, P, Perola, M, Boehnke, M, Bonnycastle, LL, Collins, FS, Jackson, AU, Mohlke, KL, Stringham, HM, Valle, TT, Willer, CJ, Bergman, RN, Morken, MA, Doering, A, Gieger, C, Illig, T, Meitinger, T, Org, E, Pfeufer, A, Wichmann, HE, Kathiresan, S, Marrugat, J, O'Donnell, CJ, Schwartz, SM, Siscovick, DS, Subirana, I, Freimer, NB, Hartikainen, A-L, McCarthy, MI, O'Reilly, PF, Peltonen, L, Pouta, A, de Jong, PE, Snieder, H, van Gilst, WH, Clarke, R, Goel, A, Hamsten, A, Peden, JF, Seedorf, U, Syvanen, A-C, Tognoni, G, Lakatta, EG, Sanna, S, Scheet, P, Schlessinger, D, Scuteri, A, Doerr, M, Ernst, F, Felix, SB, Homuth, G, Lorbeer, R, Reffelmann, T, Rettig, R, Voelker, U, Galan, P, Gut, IG, Hercberg, S, Lathrop, GM, Zelenika, D, Deloukas, P, Soranzo, N, Williams, FM, Zhai, G, Salomaa, V, Laakso, M, Elosua, R, Forouhi, NG, Volzke, H, Uiterwaal, CS, van der Schouw, YT, Numans, ME, Matullo, G, Navis, G, Berglund, G, Bingham, SA, Kooner, JS, Connell, JM, Bandinelli, S, Ferrucci, L, Watkins, H, Spector, TD, Tuomilehto, J, Altshuler, D, Strachan, DP, Laan, M, Meneton, P, Wareham, NJ, Uda, M, Jarvelin, M-R, Mooser, V, Melander, O, Loos, RJF, Elliott, P, Abecasis, GR, Caulfield, M, Munroe, PB, Newton-Cheh, C, Johnson, T, Gateva, V, Tobin, MD, Bochud, M, Coin, L, Najjar, SS, Zhao, JH, Heath, SC, Eyheramendy, S, Papadakis, K, Voight, BF, Scott, LJ, Zhang, F, Farrall, M, Tanaka, T, Wallace, C, Chambers, JC, Khaw, K-T, Nilsson, P, van der Harst, P, Polidoro, S, Grobbee, DE, Onland-Moret, NC, Bots, ML, Wain, LV, Elliott, KS, Teumer, A, Luan, J, Lucas, G, Kuusisto, J, Burton, PR, Hadley, D, McArdle, WL, Brown, M, Dominiczak, A, Newhouse, SJ, Samani, NJ, Webster, J, Zeggini, E, Beckmann, JS, Bergmann, S, Lim, N, Song, K, Vollenweider, P, Waeber, G, Waterworth, DM, Yuan, X, Groop, L, Orho-Melander, M, Allione, A, Di Gregorio, A, Guarrera, S, Panico, S, Ricceri, F, Romanazzi, V, Sacerdote, C, Vineis, P, Barroso, I, Sandhu, MS, Luben, RN, Crawford, GJ, Jousilahti, P, Perola, M, Boehnke, M, Bonnycastle, LL, Collins, FS, Jackson, AU, Mohlke, KL, Stringham, HM, Valle, TT, Willer, CJ, Bergman, RN, Morken, MA, Doering, A, Gieger, C, Illig, T, Meitinger, T, Org, E, Pfeufer, A, Wichmann, HE, Kathiresan, S, Marrugat, J, O'Donnell, CJ, Schwartz, SM, Siscovick, DS, Subirana, I, Freimer, NB, Hartikainen, A-L, McCarthy, MI, O'Reilly, PF, Peltonen, L, Pouta, A, de Jong, PE, Snieder, H, van Gilst, WH, Clarke, R, Goel, A, Hamsten, A, Peden, JF, Seedorf, U, Syvanen, A-C, Tognoni, G, Lakatta, EG, Sanna, S, Scheet, P, Schlessinger, D, Scuteri, A, Doerr, M, Ernst, F, Felix, SB, Homuth, G, Lorbeer, R, Reffelmann, T, Rettig, R, Voelker, U, Galan, P, Gut, IG, Hercberg, S, Lathrop, GM, Zelenika, D, Deloukas, P, Soranzo, N, Williams, FM, Zhai, G, Salomaa, V, Laakso, M, Elosua, R, Forouhi, NG, Volzke, H, Uiterwaal, CS, van der Schouw, YT, Numans, ME, Matullo, G, Navis, G, Berglund, G, Bingham, SA, Kooner, JS, Connell, JM, Bandinelli, S, Ferrucci, L, Watkins, H, Spector, TD, Tuomilehto, J, Altshuler, D, Strachan, DP, Laan, M, Meneton, P, Wareham, NJ, Uda, M, Jarvelin, M-R, Mooser, V, Melander, O, Loos, RJF, Elliott, P, Abecasis, GR, Caulfield, M, and Munroe, PB
- Abstract
Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N ≤ 71,225 European ancestry, N ≤ 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N = 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 × 10(-24)), CYP1A2 (P = 1 × 10(-23)), FGF5 (P = 1 × 10(-21)), SH2B3 (P = 3 × 10(-18)), MTHFR (P = 2 × 10(-13)), c10orf107 (P = 1 × 10(-9)), ZNF652 (P = 5 × 10(-9)) and PLCD3 (P = 1 × 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.
- Published
- 2009
212. Species differences in blood-brain barrier transport of three positron emission tomography radioligands with emphasis on P-glycoprotein transport
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Syvanen, S., Lindhe, O., Palner, M., Kornum, Birgitte Rahbek, Rahman, O., Langstrom, B., Knudsen, Gitte Moos, Hammarlund-Udenaes, M., Syvanen, S., Lindhe, O., Palner, M., Kornum, Birgitte Rahbek, Rahman, O., Langstrom, B., Knudsen, Gitte Moos, and Hammarlund-Udenaes, M.
- Abstract
Species differences occur in the brain concentrations of drugs, but the reasons for these differences are not yet apparent. This study was designed to compare brain uptake of three radiolabeled P-glycoprotein (P-gp) substrates across species using positron emission tomography. Brain concentrations and brain-to-plasma ratios were compared; [(11)C]verapamil in rats, guinea pigs, and monkeys; [(11)C](S)-(2-methoxy-5-(5-trifluoromethyltetrazol-1-yl)-phenylmethylamino )-2(S)-phenylpiperidine (GR205171) in rats, guinea pigs, monkeys, and humans; and [(18)F]altanserin in rats, minipigs, and humans. The fraction of the unbound radioligand in plasma was studied along with its metabolism. The effect of P-gp inhibition was investigated by administering cyclosporin A (CsA). Pronounced species differences were found in the brain and brain-to-plasma concentrations of [(11)C]verapamil, [(11)C]GR205171, and [(18)F]altanserin with higher brain distribution in humans, monkeys, and minipigs than in rats and guinea pigs. For example, the brain-to-plasma ratio of [(11)C]GR205171 was almost 9-fold higher in humans compared with rats. The species differences were still present after P-gp inhibition, although the increase in brain concentrations after P-gp inhibition was somewhat greater in rats than in the other species. Differences in plasma protein binding and metabolism did not explain the species-related differences. The findings are important for interpretation of brain drug delivery when extrapolating preclinical data to humans. Compounds found to be P-gp substrates in rodents are likely to also be substrates in higher species, but sufficient blood-brain barrier permeability may be retained in humans to allow the compound to act at intracerebral targets Udgivelsesdato: 2009/3
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- 2009
213. Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling
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Varjosalo, M., Bjorklund, M., Cheng, F., Syvanen, H., Kivioja, T., Kilpinen, S., Sun, Z., Kallioniemi, O., Stunnenberg, H.G., He, W. W., Ojala, P., Taipale, J., Varjosalo, M., Bjorklund, M., Cheng, F., Syvanen, H., Kivioja, T., Kilpinen, S., Sun, Z., Kallioniemi, O., Stunnenberg, H.G., He, W. W., Ojala, P., and Taipale, J.
- Abstract
Item does not contain fulltext
- Published
- 2008
214. Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia--a comparative study of four differently designed, high resolution microarray platforms
- Author
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Gunnarsson, R., Staaf, J., Jansson, M., Ottesen, A.M., Goransson, H., Liljedahl, U., Ralfkiaer, U., Mansouri, M., Buhl, A.M., Smedby, K.E., Hjalgrim, H., Syvanen, A.C., Borg, A., Isaksson, A., Jurlander, J., Juliusson, G., Rosenquist, R., Gunnarsson, R., Staaf, J., Jansson, M., Ottesen, A.M., Goransson, H., Liljedahl, U., Ralfkiaer, U., Mansouri, M., Buhl, A.M., Smedby, K.E., Hjalgrim, H., Syvanen, A.C., Borg, A., Isaksson, A., Jurlander, J., Juliusson, G., and Rosenquist, R.
- Abstract
Screening for gene copy-number alterations (CNAs) has improved by applying genome-wide microarrays, where SNP arrays also allow analysis of loss of heterozygozity (LOH). We here analyzed 10 chronic lymphocytic leukemia (CLL) samples using four different high-resolution platforms: BAC arrays (32K), oligonucleotide arrays (185K, Agilent), and two SNP arrays (250K, Affymetrix and 317K, Illumina). Cross-platform comparison revealed 29 concordantly detected CNAs, including known recurrent alterations, which confirmed that all platforms are powerful tools when screening for large aberrations. However, detection of 32 additional regions present in 2-3 platforms illustrated a discrepancy in detection of small CNAs, which often involved reported copy-number variations. LOH analysis using dChip revealed concordance of mainly large regions, but showed numerous, small nonoverlapping regions and LOH escaping detection. Evaluation of baseline variation and copy-number ratio response showed the best performance for the Agilent platform and confirmed the robustness of BAC arrays. Accordingly, these platforms demonstrated a higher degree of platform-specific CNAs. The SNP arrays displayed higher technical variation, although this was compensated by high density of elements. Affymetrix detected a higher degree of CNAs compared to Illumina, while the latter showed a lower noise level and higher detection rate in the LOH analysis. Large-scale studies of genomic aberrations are now feasible, but new tools for LOH analysis are requested Udgivelsesdato: 2008/8
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- 2008
215. The human acrosome reaction is highly sensitive to inhibition by cyclodiene insecticides
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K O, Turner, M, Syvanen, and S, Meizel
- Subjects
Male ,Insecticides ,Dose-Response Relationship, Drug ,Ionophores ,Ionomycin ,Glycine ,Sensitivity and Specificity ,Tissue Donors ,Chlordan ,Sperm Motility ,Humans ,Acrosome ,Sperm Capacitation ,Endosulfan ,Progesterone - Abstract
The mammalian sperm acrosome reaction (AR) is essential to fertilization. It can be initiated in vitro by progesterone, a putative physiological initiator that helps to activate sperm GABA(A) receptor/chloride channels and by glycine, a substitute for the egg zona pellucida, which activates sperm glycine receptor/chloride channels. Even at 1 nM (0.41 ng/ml or 0.41 ppb), chlordane and endosulfan, chlorinated cyclodiene blockers of insect neuronal GABA(A) receptor/chloride channels, strongly inhibited the AR initiated by progesterone or glycine. Inhibition of the latter was also seen at 0.1 nM chlordane and endosulfan, but neither cyclodiene inhibited either AR initiator at 0.01 nM. Inhibitory concentrations of these cyclodienes are well within the range detected in human and wildlife tissue and fluids as a result of environmental contamination.
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- 1998
216. Genetic Determinants of Dabigatran Plasma Levels and Their Relation to Bleeding
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Paré, Guillaume, primary, Eriksson, Niclas, additional, Lehr, Thorsten, additional, Connolly, Stuart, additional, Eikelboom, John, additional, Ezekowitz, Michael D., additional, Axelsson, Tomas, additional, Haertter, Sebastian, additional, Oldgren, Jonas, additional, Reilly, Paul, additional, Siegbahn, Agneta, additional, Syvanen, Ann-Christine, additional, Wadelius, Claes, additional, Wadelius, Mia, additional, Zimdahl-Gelling, Heike, additional, Yusuf, Salim, additional, and Wallentin, Lars, additional
- Published
- 2013
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217. Development of a lab-on-a-chip device for point-of-care genetic diagnostics
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Ahlford, A., Brivio, Monica, Gudnason, H., Wolff, Anders, Syvanen, A., Ahlford, A., Brivio, Monica, Gudnason, H., Wolff, Anders, and Syvanen, A.
- Published
- 2007
218. Folate status and polymorphisms of the methylenetetrahydrofolate (MTHFR) gene in infertile women
- Author
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Syvanen, Tiina, Stavréus-Evers, Anneli, Nilsson, Torbjörn, Yngve, Agneta, Syvanen, Tiina, Stavréus-Evers, Anneli, Nilsson, Torbjörn, and Yngve, Agneta
- Published
- 2007
219. Monovalent cations differ in their effects on transcription initiation from a sigma-70 promoter of Escherichia coli
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Karl Drlica, Michael Syvanen, and Jian ying Wang
- Subjects
DNA, Bacterial ,Transcription, Genetic ,Sodium ,Potassium ,Molecular Sequence Data ,Restriction Mapping ,chemistry.chemical_element ,Biology ,Abortive initiation ,Rubidium ,chemistry.chemical_compound ,Restriction map ,Transcription (biology) ,Cations ,Genetics ,Escherichia coli ,Promoter Regions, Genetic ,Base Sequence ,General Medicine ,Templates, Genetic ,chemistry ,Biochemistry ,DNA supercoil ,Sodium acetate ,Plasmids - Abstract
Initiation of transcription from the sigma-70 rep promoter of plasmid pBR322 was measured by abortive transcription assays at various concentrations of potassium, rubidium, and sodium acetate. When linear and negatively supercoiled templates were compared, each salt generated a characteristic response. Increasing the salt concentration decreased transcription from a linear template but produced an increase (potassium) or a bell-shaped response (rubidium) with a supercoiled template. In the case of sodium ions, increasing concentration inhibited transcription initiation from both linear and supercoiled templates. These results are discussed with respect to effects of monovalent cations on DNA twist.
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- 1997
220. A quality assessment survey of SNP genotyping laboratories
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Lahermo, P., Liljedahl, U., Alnaes, G., Axelsson, T., Brookes, A. J., Ellonen, P., Groop, P. H., Hallden, C., Holmberg, D., Holmberg, K., Keinanen, M., Kepp, K., Kere, J., Kiviluoma, P., Kristensen, V., Lindgren, C., Odeberg, Jacob, Osterman, P., Parkkonen, M., Saarela, J., Sterner, M., Stromqvist, L., Talas, U., Wessman, M., Palotie, A., Syvanen, A. C., Lahermo, P., Liljedahl, U., Alnaes, G., Axelsson, T., Brookes, A. J., Ellonen, P., Groop, P. H., Hallden, C., Holmberg, D., Holmberg, K., Keinanen, M., Kepp, K., Kere, J., Kiviluoma, P., Kristensen, V., Lindgren, C., Odeberg, Jacob, Osterman, P., Parkkonen, M., Saarela, J., Sterner, M., Stromqvist, L., Talas, U., Wessman, M., Palotie, A., and Syvanen, A. C.
- Abstract
To survey the quality of SNP genotyping, a joint Nordic quality assessment (QA) round was organized between 11 laboratories in the Nordic and Baltic countries. The QA round involved blinded genotyping of 47 DNA samples for 18 or six randomly selected SNPs. The methods used by the participating laboratories included all major platforms for small, to medium-size SNP genotyping. The laboratories used their standard procedures for SNP assay design, genotyping, and quality control. Based on the joint results from all laboratories, a consensus genotype for each DNA sample and SNP was determined by the coordinator of the survey, and the results from each laboratory were compared to this genotype. The overall genotyping accuracy achieved in the survey was excellent. Six laboratories delivered genotype data that were in full agreement with the consensus genotype. The average accuracy per SNP varied from 99.1 to 100% between the laboratories, and it was frequently 100% for the majority of the assays for which SNP genotypes were reported. Lessons from the survey are that special attention should be given to the quality of the DNA samples prior to genotyping, and that a conservative approach for calling the genotypes should be used to achieve a high accuracy. Hum Mutat 27(7), 711-714,2006., QC 20100525
- Published
- 2006
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221. Detection of alternatively spliced transcripts in leukemia cell lines by minisequencing on microarrays.
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Milani, Lili, Fredriksson, Mona, Syvanen, Ann-Christine, Milani, Lili, Fredriksson, Mona, and Syvanen, Ann-Christine
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- 2006
222. Amount of introgression in flycatcher hybrid zones reflects regional differences in pre and post-zygotic barriers to gene exchange.
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Borge, T, Lindroos, K, Nadvornik, P, Syvanen, A-C, Saetre, G-P, Borge, T, Lindroos, K, Nadvornik, P, Syvanen, A-C, and Saetre, G-P
- Published
- 2005
223. Evolutionary Implications of Horizontal Gene Transfer
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Syvanen, Michael, primary
- Published
- 2012
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224. 590 The DNA Methylation Landscape of Paediatric Acute Lymphoblastic Leukemia
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Nordlund, J., primary, Backlin, C., additional, Wahlberg, P., additional, Forestier, E., additional, Heyman, M., additional, Soderhall, S., additional, Schmiegelow, K., additional, Lonnerholm, G., additional, Gustafsson, M., additional, and Syvanen, A.C., additional
- Published
- 2012
- Full Text
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225. Towards Opportunistic Uses of Future Learning Environments: Flexible and Activating Learning in Higher Education
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Syvanen, Antti, primary and Viteli, Jarmo, additional
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- 2012
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226. Transforming growth factor beta1 genotype and change in left ventricular mass during antipypertensive treatment - results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA)
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Hallberg, P, Lind, L, Billberger, K, Michaelsson, K, Karlsson, J, Kurland, L, Kahan, T, Malmqvist, K, Ohman, KP, Nyström, Fredrik, Liljedahl, U, Syvanen, AC, Melhus, H, Hallberg, P, Lind, L, Billberger, K, Michaelsson, K, Karlsson, J, Kurland, L, Kahan, T, Malmqvist, K, Ohman, KP, Nyström, Fredrik, Liljedahl, U, Syvanen, AC, and Melhus, H
- Published
- 2004
227. Gender-specific association between preproendothelin-1 genotype and reduction of systolic blood pressure during antihypertensive treatment - results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA)
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Hallberg, P, Karlsson, J, Lind, L, Michaelsson, K, Kurland, L, Kahan, T, Malmqvist, K, Ohman, KP, Nyström, Fredrik, Liljedahl, U, Syvanen, AC, Melhus, H, Hallberg, P, Karlsson, J, Lind, L, Michaelsson, K, Kurland, L, Kahan, T, Malmqvist, K, Ohman, KP, Nyström, Fredrik, Liljedahl, U, Syvanen, AC, and Melhus, H
- Published
- 2004
228. Churning out safer microbes for drug delivery
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Michael Syvanen
- Subjects
business.industry ,SAFER ,Drug delivery ,Biomedical Engineering ,Molecular Medicine ,Bioengineering ,Business ,Churning ,Applied Microbiology and Biotechnology ,Biotechnology - Abstract
A strategy for containment of a dairy bacterium shows promise for facilitating the application of live GM organisms to human therapies.
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- 2003
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229. 70 Gene expression at the 9p21 locus and cad risk
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Nelson, C. P., primary, Lundmark, P., additional, Codd, V., additional, Goodall, A. H., additional, Syvanen, A. C., additional, and Samani, N. J., additional
- Published
- 2011
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230. The Gut Mucosal Viral Reservoir in HIV-Infected Patients Is Not the Major Source of Rebound Plasma Viremia following Interruption of Highly Active Antiretroviral Therapy
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Lerner, Paula, primary, Guadalupe, Moraima, additional, Donovan, Richard, additional, Hung, Jason, additional, Flamm, Jason, additional, Prindiville, Thomas, additional, Sankaran-Walters, Sumathi, additional, Syvanen, Michael, additional, Wong, Joseph K., additional, George, Michael D., additional, and Dandekar, Satya, additional
- Published
- 2011
- Full Text
- View/download PDF
231. Rapid Manufacturing with Direct Metal Laser Sintering
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RAPID MANUFACTURING DEVELOPMENT GROUP RUSKO (FINLAND), Lind, J-E., Hanninen, J., Kotila, J., Nyrhila, O., Syvanen, T., RAPID MANUFACTURING DEVELOPMENT GROUP RUSKO (FINLAND), Lind, J-E., Hanninen, J., Kotila, J., Nyrhila, O., and Syvanen, T.
- Abstract
The term Rapid Manufacturing is today very often used as a substitute for Rapid Prototyping, because the manufacturing processes and materials have developed so much that the parts produced with the machines can even be used as functional production parts. For Direct Metal Laser Sintering (DMLS) this was enabled by the introduction of the powders for 20 micron layer thickness; steel-based powder in 2001 and bronze-based powder in 2002. Successful rapid manufacturing with DMLS does not only mean the reduction of layer thickness, but it is a sum of many factors that had to be optimized in order to make the process work with the 20 micron layer thickness: the metal powder behavior in very thin layers is not the same as with thicker layers, the demands for the support structures are higher and the possibility of using multiples of the layer thickness gives additional freedom. By optimizing the process parameters the UTS values for the steel-based powder increased up to 600 MPa and for the bronze-based powder up to 400 MPa. At the same time the surface roughness (Ra) values after shot peening were 3 microns and 2 microns, respectively. Although using thinner layers also increases the building time the advantage is gained in drastically reduced finishing times due to increased surface quality and detail resolution. Typical geometries produced by DMLS are difficult-to- manufacture components and components typically produced by P/M or even by die-casting. The paper covers the development aspects in both material and process development and also presents some realized case studies., This article is from the Mat. Res. Soc. Symp. Proc. Vol. 758 p17-22, 2003. This article is from ADA417756 Materials Research Society Symposium Proceedings, Volume 758 Held in Boston, Massachusetts on December 3-5, 2002. Rapid Prototyping Technologies
- Published
- 2003
232. A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response
- Author
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Liljedahl, U, Karlsson, J, Melhus, H, Kurland, L, Lindersson, M, Kahan, T, Nyström, Fredrik, Lind, L, Syvanen, AC, Liljedahl, U, Karlsson, J, Melhus, H, Kurland, L, Lindersson, M, Kahan, T, Nyström, Fredrik, Lind, L, and Syvanen, AC
- Abstract
We aimed to develop a microarray genotyping system for multiplex analysis of a panel of single nucleotide polymorphisms (SNPs) in genes encoding proteins involved in blood pressure regulation, and to apply this system in a pilot study demonstrating its feasibility in the pharmacogenetics of hypertension. A panel of 74 SNPs in 25 genes involved in blood pressure regulation was selected from the SNP databases, and genotyped in DNA samples of 97 hypertensive patients. The patients had been randomized to double-blind treatment with either the angiotensin II type 1 receptor blocker irbesartan or the ▀1-adrenergic receptor blocker atenolol. Genotyping was performed using a microarray based DNA polymerase assisted 'minisequencing' single nucleotrde primer extension assay with fluorescence detection. The observed genotypes were related to the blood pressure reduction using stepwise multiple regression analysis. The allele frequencies of the selected SNPs were determined in the Swedish population. The established microarray-based genotyping system was validated and allowed unequivocal multiplex genotyping of the panel of 74 SNPs in every patient. Almost 7200 SNP genotypes were generated in thestudy. Profiles of four or five SNP-genotypes that may be useful as predictors of blood pressure reduction after antihypertensive treatment were identified. Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics. Pharrnacogenetics 13:7-17 ⌐ 2003 Lippincott Williams & Wilkins.
- Published
- 2003
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233. Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy
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Hallberg, P, Lind, L, Michaelsson, K, Kurland, L, Kahan, T, Malmqvist, X?, Öhman, KP, Nyström, Fredrik, Liljedahl, U, Syvanen, AC, Melhus, H, Hallberg, P, Lind, L, Michaelsson, K, Kurland, L, Kahan, T, Malmqvist, X?, Öhman, KP, Nyström, Fredrik, Liljedahl, U, Syvanen, AC, and Melhus, H
- Abstract
Background: Adipocyte-derived leucine aminopeptidase (ALAP) is a recently identified member of the M1 family of zinc-metallopeptidases and is thought to play a role in blood pressure control through inactivation of angiotensin II and/or generation of bradykinin. The enzyme seems to be particularly abundant in the heart. Recently, the Arg528-encoding allele of the ALAP gene was shown to be associated with essential hypertension. Methods: We evaluated the influence of this polymorphism on the change in left ventricular mass index in 90 patients with essential hypertension and echocardiographically diagnosed left ventricular hypertrophy, randomised in a double-blind study to receive treatment with either the angiotensin II type I receptor antagonist irbesartan or the beta1-adrenoceptor blocker atenolol for 48 weeks. Genyotyping was performed using minisequencing. Results: After adjustment for potential covariates (blood pressure and left ventricular mass index at baseline, blood pressure change, age, sex, dose and added antihypertensive treatment), there was a marked difference between the Arg/Arg and Lys/Arg genotypes in patients treated with irbesartan, those with the Arg/Arg genotype responded on average with an almost two-fold greater regression of left ventricular mass index than patients with the Lys/Arg genotype (-30.1 g/m2 [3.6] vs - 16.7 [4.5], p = 0.03). Conclusions: The ALAP genotype seems to determine the degree of regression of left ventricular hypertrophy during antihypertensive treatment with the angiotensin II type I receptor antagonist irbesartan in patients with essential hypertension and left ventricular hypertrophy. This is the first report of a role for ALAP/aminopeptidases in left ventricular mass regulation, and suggests a new potential target for antihypertensive drugs.
- Published
- 2003
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234. Using PET Studies of P-gp Function to Elucidate Mechanisms Underlying the Disposition of Drugs
- Author
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Syvanen, Stina, primary and Hammarlund-Udenaes, Margareta, additional
- Published
- 2010
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- View/download PDF
235. ChemInform Abstract: Detection of Sequence Variation Using Primer Extension
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SYVANEN, A.-C., primary
- Published
- 2010
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236. WHOLE GENOME COMPARISONS REVEALS A POSSIBLE CHIMERIC ORIGIN FOR A MAJOR METAZOAN ASSEMBLAGE
- Author
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SYVANEN, MICHAEL, primary and DUCORE, JONATHAN, additional
- Published
- 2010
- Full Text
- View/download PDF
237. SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance
- Author
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Edvardsen, H, primary, Brunsvig, P F, additional, Solvang, H, additional, Tsalenko, A, additional, Andersen, A, additional, Syvanen, A-C, additional, Yakhini, Z, additional, Børresen-Dale, A-L, additional, Olsen, H, additional, Aamdal, S, additional, and Kristensen, V N, additional
- Published
- 2010
- Full Text
- View/download PDF
238. Glutathione Transferase in the Decontamination of O-P Toxins and Chlorinated Hydrocarbons
- Author
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CALIFORNIA UNIV DAVIS SCHOOL OF MEDICINE, Syvanen, Michael, CALIFORNIA UNIV DAVIS SCHOOL OF MEDICINE, and Syvanen, Michael
- Abstract
Glutathione transferases are ubiquitous in nature. So far they have been found in all eukaryotes and most bacteria strongly implying they serve an essential function for life. This function appears to be no more than an aid to organisms to detoxify certain chemically active agents that can be toxic. In the housefly Musca domesitica we have been studying the gst gene and its encoded enzyme that is responsible for detoxifying the organophosphotriester neurtoxins (OP) that are used as insecticides. The gene designated gst6a is one of over a dozen found in the organism, has been cloned and expressed in E.coli.
- Published
- 2002
239. Horizontal gene transfer
- Author
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Syvanen, Michael., Kado, Clarence I., Syvanen, Michael., and Kado, Clarence I.
- Published
- 2002
240. A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus
- Author
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Svenungsson, E., primary, Gustafsson, J., additional, Leonard, D., additional, Sandling, J., additional, Gunnarsson, I., additional, Nordmark, G., additional, Jonsen, A., additional, Bengtsson, A. A., additional, Sturfelt, G., additional, Rantapaa-Dahlqvist, S., additional, Elvin, K., additional, Sundin, U., additional, Garnier, S., additional, Simard, J. F., additional, Sigurdsson, S., additional, Padyukov, L., additional, Syvanen, A.-C., additional, and Ronnblom, L., additional
- Published
- 2009
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241. Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort
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Hellquist, A., primary, Sandling, J. K., additional, Zucchelli, M., additional, Koskenmies, S., additional, Julkunen, H., additional, D'Amato, M., additional, Garnier, S., additional, Syvanen, A.-C., additional, and Kere, J., additional
- Published
- 2009
- Full Text
- View/download PDF
242. Heteroplasmy of the human mtDNA Control region remains constant during life
- Author
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Lagerstrom-Fermer, M, Olsson, L, Forsgren, L, Syvanen, A-C, Lagerstrom-Fermer, M, Olsson, L, Forsgren, L, and Syvanen, A-C
- Published
- 2001
243. Minisequencing on oligonucleotide microarrays: Comparison of immobilization chemistries.
- Author
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Lindroos, K, Liljedahl, U, Raitio, M, Syvanen, A-C, Lindroos, K, Liljedahl, U, Raitio, M, and Syvanen, A-C
- Published
- 2001
244. Daily versus as-needed inhaled corticosteroid for mild persistent asthma (The Helsinki early intervention childhood asthma study)
- Author
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Turpeinen, M, primary, Nikander, K, additional, Pelkonen, A S, additional, Syvanen, P, additional, Sorva, R, additional, Raitio, H, additional, Malmberg, P, additional, Juntunen-Backman, K, additional, and Haahtela, T, additional
- Published
- 2008
- Full Text
- View/download PDF
245. The Relationship Between the Plasma Concentration of Irbesartan and the Antihypertensive Response Is Disclosed by an Angiotensin II Type 1 Receptor Polymorphism: Results From the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs. Atenolol (SILVHIA) Trial
- Author
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Kurland, L., primary, Hallberg, P., additional, Melhus, H., additional, Liljedahl, U., additional, Hashemi, N., additional, Syvanen, A.-C., additional, Lind, L., additional, and Kahan, T., additional
- Published
- 2008
- Full Text
- View/download PDF
246. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
- Author
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Sigurdsson, S., primary, Nordmark, G., additional, Garnier, S., additional, Grundberg, E., additional, Kwan, T., additional, Nilsson, O., additional, Eloranta, M.-L., additional, Gunnarsson, I., additional, Svenungsson, E., additional, Sturfelt, G., additional, Bengtsson, A. A., additional, Jonsen, A., additional, Truedsson, L., additional, Rantapaa-Dahlqvist, S., additional, Eriksson, C., additional, Alm, G., additional, Goring, H. H.H., additional, Pastinen, T., additional, Syvanen, A.-C., additional, and Ronnblom, L., additional
- Published
- 2008
- Full Text
- View/download PDF
247. Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations
- Author
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Kristjansdottir, G, primary, Sandling, J K, additional, Bonetti, A, additional, Roos, I M, additional, Milani, L, additional, Wang, C, additional, Gustafsdottir, S M, additional, Sigurdsson, S, additional, Lundmark, A, additional, Tienari, P J, additional, Koivisto, K, additional, Elovaara, I, additional, Pirttila, T, additional, Reunanen, M, additional, Peltonen, L, additional, Saarela, J, additional, Hillert, J, additional, Olsson, T, additional, Landegren, U, additional, Alcina, A, additional, Fernandez, O, additional, Leyva, L, additional, Guerrero, M, additional, Lucas, M, additional, Izquierdo, G, additional, Matesanz, F, additional, and Syvanen, A-C, additional
- Published
- 2008
- Full Text
- View/download PDF
248. Response from Bouhouche, Syvanen and Kado
- Author
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Naima Bouhouche, Michael Syvanen, and Clarence I. Kado
- Subjects
Microbiology (medical) ,Infectious Diseases ,Virology ,Computational biology ,Biology ,Microbiology - Published
- 2000
- Full Text
- View/download PDF
249. Manifold-assisted reverse transcription-PCR with real-time detection for measurement of the BCR-ABL fusion transcript in chronic myeloid leukemia patients.
- Author
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Barbany, G., Hagberg, A., Olsson-Stromberg, U., Simonsson, B., Syvanen, A-C, Landegren, U., Barbany, G., Hagberg, A., Olsson-Stromberg, U., Simonsson, B., Syvanen, A-C, and Landegren, U.
- Published
- 2000
250. Discovery, scoring and utilization of human single nucleotide polymorphisms: a multidisciplinary problem.Eur J Hum Genet.
- Author
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Isaksson, A., Landegren, U., Syvanen, A-C, Bork, P., Stein, C., Ortigao, F.R., Brookes, A., Isaksson, A., Landegren, U., Syvanen, A-C, Bork, P., Stein, C., Ortigao, F.R., and Brookes, A.
- Published
- 2000
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