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745 results on '"Kuivaniemi, Helena"'

101. Genetic Association of Lipids and Lipid Drug Targets With Abdominal Aortic Aneurysm: A Meta-analysis

Author: Team Medisch, Circulatory Health, Genetica Klinische Genetica, CMM Groep Kaaij, Zorgeenheid Vaatchirurgie Medisch, Cardiovasculaire Epi Team 5, Cardiovasculaire Epi Team 7, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Harrison, Seamus C., Holmes, Michael V., Burgess, Stephen, Asselbergs, Folkert W., Jones, Gregory T., Baas, Annette F., Van't Hof, F. N., De Bakker, Paul I.W., Blankensteijn, Jan D., Powell, Janet T., Saratzis, Athanasios, De Borst, Gert J., Swerdlow, Daniel I., Van Der Graaf, Yolanda, Van Rij, Andre M., Carey, David J., Elmore, James R., Tromp, Gerard, Kuivaniemi, Helena, Sayers, Robert D., Samani, Nilesh J., Bown, Matthew J., Humphries, Steve E., Team Medisch, Circulatory Health, Genetica Klinische Genetica, CMM Groep Kaaij, Zorgeenheid Vaatchirurgie Medisch, Cardiovasculaire Epi Team 5, Cardiovasculaire Epi Team 7, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Harrison, Seamus C., Holmes, Michael V., Burgess, Stephen, Asselbergs, Folkert W., Jones, Gregory T., Baas, Annette F., Van't Hof, F. N., De Bakker, Paul I.W., Blankensteijn, Jan D., Powell, Janet T., Saratzis, Athanasios, De Borst, Gert J., Swerdlow, Daniel I., Van Der Graaf, Yolanda, Van Rij, Andre M., Carey, David J., Elmore, James R., Tromp, Gerard, Kuivaniemi, Helena, Sayers, Robert D., Samani, Nilesh J., Bown, Matthew J., and Humphries, Steve E.
Published: 2018

102. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author: Arts Assistenten Cardiologie, Circulatory Health, Cardiovasculaire Epi Team 5, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Experimentele Afd. Cardiologie 1, Onderzoeksgroep 11, Brain, Onderzoek, CDL Cluster Onderzoek en Onderwijs, Onderzoek Precision medicine, Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G.D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C.Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D'Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I.W., Groot, Mark C.H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans Jörgen, Grant, Struan F.A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M.M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L.R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng Hung, Lin, Li An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian'An, Lubitz, Steven A., Lyytikäinen, Leo Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O'Connel, Jeffrey R., O'Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N.A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R.B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R.B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, Van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhou, Wei, Zondervan, Krina T., Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., Loos, Ruth J.F., Arts Assistenten Cardiologie, Circulatory Health, Cardiovasculaire Epi Team 5, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Experimentele Afd. Cardiologie 1, Onderzoeksgroep 11, Brain, Onderzoek, CDL Cluster Onderzoek en Onderwijs, Onderzoek Precision medicine, Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G.D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C.Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D'Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I.W., Groot, Mark C.H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans Jörgen, Grant, Struan F.A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M.M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L.R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng Hung, Lin, Li An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian'An, Lubitz, Steven A., Lyytikäinen, Leo Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O'Connel, Jeffrey R., O'Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N.A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R.B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R.B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, Van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhou, Wei, Zondervan, Krina T., Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J.F.
Published: 2018

103. Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study

Author: Sakalihasan Natzi, Shibamura Hidenori, Lu Qing, Parrado Antonio R, Lancaster Wayne D, Tromp Gerard, Skunca Magdalena, Goddard Katrina AB, Gregoire Lucie, Ogata Toru, Limet Raymond, MacKean Gerald L, Arthur Claudette, Sueda Taijiro, and Kuivaniemi Helena
Subjects: Internal medicine, RC31-1245, Genetics, QH426-470
Abstract: Abstract Background Chronic inflammation and autoimmunity likely contribute to the pathogenesis of abdominal aortic aneurysms (AAAs). The aim of this study was to investigate the role of autoimmunity in the etiology of AAAs using a genetic association study approach with HLA polymorphisms. Methods HLA-DQA1, -DQB1, -DRB1 and -DRB3-5 alleles were determined in 387 AAA cases (180 Belgian and 207 Canadian) and 426 controls (269 Belgian and 157 Canadian) by a PCR and single-strand oligonucleotide probe hybridization assay. Results We observed a potential association with the HLA-DQA1 locus among Belgian males (empirical p = 0.027, asymptotic p = 0.071). Specifically, there was a significant difference in the HLA-DQA1*0102 allele frequencies between AAA cases (67/322 alleles, 20.8%) and controls (44/356 alleles, 12.4%) in Belgian males (empirical p = 0.019, asymptotic p = 0.003). In haplotype analyses, marginally significant association was found between AAA and haplotype HLA-DQA1-DRB1 (p = 0.049 with global score statistics and p = 0.002 with haplotype-specific score statistics). Conclusion This study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.
Published: 2006
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104. Identification of novel functional sequence variants in the gene for peptidase inhibitor 3

Author: Edwin Samuel, Romero Roberto, Kuivaniemi Helena, Chowdhury Mahboob A, Chaiworapongsa Tinnakorn, and Tromp Gerard
Subjects: Internal medicine, RC31-1245, Genetics, QH426-470
Abstract: Abstract Background Peptidase inhibitor 3 (PI3) inhibits neutrophil elastase and proteinase-3, and has a potential role in skin and lung diseases as well as in cancer. Genome-wide expression profiling of chorioamniotic membranes revealed decreased expression of PI3 in women with preterm premature rupture of membranes. To elucidate the molecular mechanisms contributing to the decreased expression in amniotic membranes, the PI3 gene was searched for sequence variations and the functional significance of the identified promoter variants was studied. Methods Single nucleotide polymorphisms (SNPs) were identified by direct sequencing of PCR products spanning a region from 1,173 bp upstream to 1,266 bp downstream of the translation start site. Fourteen SNPs were genotyped from 112 and nine SNPs from 24 unrelated individuals. Putative transcription factor binding sites as detected by in silico search were verified by electrophoretic mobility shift assay (EMSA) using nuclear extract from Hela and amnion cell nuclear extract. Deviation from Hardy-Weinberg equilibrium (HWE) was tested by χ2 goodness-of-fit test. Haplotypes were estimated using expectation maximization (EM) algorithm. Results Twenty-three sequence variations were identified by direct sequencing of polymerase chain reaction (PCR) products covering 2,439 nt of the PI3 gene (-1,173 nt of promoter sequences and all three exons). Analysis of 112 unrelated individuals showed that 20 variants had minor allele frequencies (MAF) ranging from 0.02 to 0.46 representing "true polymorphisms", while three had MAF ≤ 0.01. Eleven variants were in the promoter region; several putative transcription factor binding sites were found at these sites by database searches. Differential binding of transcription factors was demonstrated at two polymorphic sites by electrophoretic mobility shift assays, both in amniotic and HeLa cell nuclear extracts. Differential binding of the transcription factor GATA1 at -689C>G site was confirmed by a supershift. Conclusion The promoter sequences of PI3 have a high degree of variability. Functional promoter variants provide a possible mechanism for explaining the differences in PI3 mRNA expression levels in the chorioamniotic membranes, and are also likely to be useful in elucidating the role of PI3 in other diseases.
Published: 2006
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105. Attitudes among South African university staff and students towards disclosing secondary genetic findings.

Author: Spies, Georgina, Mokaya, Jolynne, Steadman, Jacqui, Schuitmaker, Nicole, Kidd, Martin, Hemmings, S. M. J., Carr, Jonathan A., Kuivaniemi, Helena, and Seedat, Soraya
Abstract: The present study represents an initial step in understanding diverse academic perspectives on the disclosure of secondary findings (SFs) from genetic research conducted in Africa. Using an online survey completed by 674 university students and academic staff in South Africa, we elicited attitudes towards the return of SFs. Latent class analysis (LCA) was performed to classify sub-groups of participants according to their overall attitudes to returning SFs. We did not find substantial differences in attitudes towards the return of findings between staff and students. Overall, respondents were in favour of the return of SFs in genetics research, depending on the type. The majority of survey respondents (80%) indicated that research participants should be given the option of deciding whether to have genetic SFs returned. LCA revealed that the largest group (53%) comprised individuals with more favourable attitudes to the return of SFs in genetics research. Those with less favourable attitudes comprised only 4% of the sample. This study provides important insights that may, together with further empirical evidence, inform the development of research guidelines and policy to assist healthcare professionals and researchers. [ABSTRACT FROM AUTHOR]
Published: 2021
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106. Sequencing of cDNA from 50 Unrelated Patients Reveals That Mutations in the Triple-Helical Domain of Type III Procollagen Are an Infrequent Cause of Aortic Aneurysms

Author: Tromp, Gerard, Wu, Yuli, Prockop, Darwin J., Madhatheri, Swarna L., Kleinert, Caren, Earley, James J., Zhuang, Jiapiao, Norrgard, Orjan, Darling, R. Clement, Abbott, William M., Cole, C. William, Jaakkola, Pekka, Ryynanen, Markku, Pearce, William H., Yao, James S. T., Majamaa, Kari, Smullens, Stanton N., Gatalica, Zoran, Ferrell, Robert E., Jimenez, Sergio A., Jackson, Charles E., Michels, Virginia V., Kaye, Michael, and Kuivaniemi, Helena.
Published: 1993

107. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study

Author: Haycock, Philip C. Burgess, Stephen Nounu, Aayah Zheng, Jie and Okoli, George N. Bowden, Jack Wade, Kaitlin Hazel and Timpson, Nicholas J. Evans, David M. Willeit, Peter Aviv, Abraham Gaunt, Tomr. Hemani, Gibran Mangino, Massimo and Ellis, Hayley Patricia Kurian, Kathreena M. Pooley, Karen A. and Eeles, Rosalind A. Lee, Jeffrey E. Fang, Shenying Chen, Wei V. Law, Matthew H. Bowdler, Lisa M. Iles, Mark M. Yang, Qiong Worrall, Bradford B. Markus, Hugh Stephen Hung, Rayjean J. Amos, Chris I. Spurdle, Amanda B. Thompson, Deborah J. O'Mara, Tracy A. Wolpin, Brian Amundadottir, Laufey Stolzenberg-Solomon, Rachael Trichopoulou, Antonia and Onland-Moret, Charlotte Lund, Eiliv Duell, Eric J. Canzian, Federico Severi, Gianluca Overvad, Kim Gunter, Marc J. and Tumino, Rosario Svenson, Ulrika van Rij, Andre Baas, Annette F. Bown, Matthew J. Samani, Nilesh J. van t'Hof, Femke N. G. and Tromp, Gerard Jones, Gregory T. Kuivaniemi, Helena and Elmore, James R. Johansson, Mattias Mckay, James Scelo, Ghislaine carreras-Torres, Robert Gaborieau, Valerie and Brennan, Paul Bracci, Paige M. Neale, Rachel E. Olson, Sara H. Gallinger, Steven Li, Donghui Petersen, Gloria M. and Risch, Harvey A. Klein, Alison P. Han, Jiali Abnet, Christian C. Freedman, Neal D. Taylor, Philip R. Maris, John M. Aben, Katja K. Kiemeney, Lambertus A. Vermeulen, Sita H. and Wiencke, John K. Walsh, Kyle M. Wrensch, Margaret Rice, Terri Turnbull, Clare Litchfield, Kevin Paternoster, Lavinia and Standl, Marie Abecasis, Goncalo R. SanGiovanni, John Paul and Li, Yong Mijatovic, Vladan Sapkota, Yadav Low, Siew-Kee and Zondervan, Krina T. Montgomery, Grant W. Nyholt, Dale R. and van Heel, David A. Hunt, Karen Arking, Dan E. Ashar, Foram N. Sotoodehnia, Nona Woo, Daniel Rosand, Jonathan and Comeau, Mary E. Brown, W. Mark Silverman, Edwin K. Hokanson, John E. Cho, Michael H. Hui, Jennie Ferreira, Manuel A. and Thompson, Philip J. Morrison, Alanna C. Felix, Janine F. and Smith, Nicholas L. Christiano, Angela M. Petukhova, Lynn and Betz, Regina C. Fan, Xing Zhang, Xuejun Zhu, Caihong and Langefeld, Carl D. Thompson, Susan D. Wang, Feijie Lin, Xu and Schwartz, David A. Fingerlin, Tasha Rotter, Jerome I. and Cotch, Mary Frances Jensen, Richard A. Munz, Matthias and Dommisch, Henrik Schaefer, Arne S. Han, Fang Ollila, Hanna M. Hillary, Ryan P. Albagha, Omar Ralston, Stuart H. and Zeng, Chenjie Zheng, Wei Shu, Xiao-Ou Reis, Andre Uebe, Steffen Hueffmeier, Ulrike Kawamura, Yoshiya Otowa, Takeshi and Sasaki, Tsukasa Hibberd, Martin Lloyd Davila, Sonia Xie, Gang Siminovitch, Katherine Bei, Jin-Xin Zeng, Yi-Xin and Foersti, Asta Chen, Bowang Landi, Stefano Franke, Andre and Fischer, Annegret Ellinghaus, David Flores, Carlos Noth, Imre Ma, Shwu-Fan Foo, Jia Nee Liu, Jianjun Kim, Jong-Won Cox, David G. Delattre, Olivier Mirabeau, Olivier and Skibola, Christine F. Tang, Clara S. Garcia-Barcelo, Merce and Chang, Kai-Ping Su, Wen-Hui Chang, Yu-Sun Martin, Nicholas G. Gordon, Scott Wade, Tracey D. Lee, Chaeyoung and Kubo, Michiaki Cha, Pei-Chieng Nakamura, Yusuke Levy, Daniel and Kimura, Masayuki Hwang, Shih-Jen Hunt, Steven Spector, Tim Soranzo, Nicole Manichaikul, Aniw. Barr, Graham and Kahali, Bratati Speliotes, Elizabeth Yerges-Armstrong, LauraM. and Cheng, Ching-Yu Jonas, Jost B. Wong, Tien Yin Fogh, Isabella Lin, Kuang Powell, John F. Rice, Kenneth and Relton, Caroline L. Martin, Richard M. Smith, George Davey and Telomeres Mendelian Randomization
Abstract: IMPORTANCE The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. OBJECTIVE To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. DATA SOURCES Genomewide association studies (GWAS) published up to January 15, 2015. STUDY SELECTION GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. DATA EXTRACTION AND SYNTHESIS Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. MAIN OUTCOMES AND MEASURES Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. RESULTS Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420 081 cases (median cases, 2526 per disease) and 1 093 105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [ 95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [ 95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [ 95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [ 95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [ 95% CI, 0.05-0.15]). CONCLUSIONS AND RELEVANCE It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.
Published: 2017

108. Additional file 1: Table S1. of Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

Author: Holzinger, Emily, Verma, Shefali, Moore, Carrie, Hall, Molly, Rishika De, Gilbert-Diamond, Diane, Lanktree, Matthew, Pankratz, Nathan, Amuzu, Antoinette, Burt, Amber, Dale, Caroline, Dudek, Scott, Furlong, Clement, Gaunt, Tom, Kim, Daniel, Riess, Helene, Suthesh Sivapalaratnam, Tragante, Vinicius, Iperen, Erik Van, Brautbar, Ariel, Carrell, David, Crosslin, David, Jarvik, Gail, Kuivaniemi, Helena, Kullo, Iftikhar, Larson, Eric, Rasmussen-Torvik, Laura, Tromp, Gerard, Baumert, Jens, Cruickshanks, Karen, Farrall, Martin, Aroon Hingorani, G. Hovingh, Kleber, Marcus, Klein, Barbara, Klein, Ronald, Koenig, Wolfgang, Lange, Leslie, MÓRz, Winfried, North, Kari, N. Charlotte Onland-Moret, Reiner, Alex, Talmud, Philippa, Schouw, Yvonne Van Der, Wilson, James, Kivimaki, Mika, Kumari, Meena, Moore, Jason, Drenos, Fotios, Asselbergs, Folkert, Keating, Brendan, and Ritchie, Marylyn
Abstract: Discovery results for all models that passed replication thresholds for MEF analysis. Column header definitions provided at the end. Table S2. Discovery results for all models that passed replication thresholds for Biofilter analysis. Column header definitions provided at the end. (PDF 1649Â kb)
Published: 2017
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109. Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

Author: Jones, Gregory T, Tromp, Gerard, Kuivaniemi, Helena, Gretarsdottir, Solveig, Baas, Annette F, Giusti, Betti, Strauss, Ewa, van 't Hof, Femke N, Webb, Thomas, Erdman, Robert, Lindholt, Jes S., and Folkersen, Lasse
Subjects: Meta-analysis, Bioinformatics tools, Matrix metalloproteinases, SDG 3 - Good Health and Well-being, cardiovascular system, Genetics, Abdominal aortic aneurysm, cardiovascular diseases, Genome-wide association studies
Abstract: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. To identify additional AAA risk loci using data from all available genome-wide association studies (GWAS). Through a meta-analysis of 6 GWAS datasets and a validation study totalling 10,204 cases and 107,766 controls we identified 4 new AAA risk loci: 1q32.3 (SMYD2), 13q12.11 (LINC00540), 20q13.12 (near PCIF1/MMP9/ZNF335), and 21q22.2 (ERG). In various database searches we observed no new associations between the lead AAA SNPs and coronary artery disease, blood pressure, lipids or diabetes. Network analyses identified ERG, IL6R and LDLR as modifiers of MMP9, with a direct interaction between ERG and MMP9. The 4 new risk loci for AAA appear to be specific for AAA compared with other cardiovascular diseases and related traits suggesting that traditional cardiovascular risk factor management may only have limited value in preventing the progression of aneurysmal disease.
Published: 2017
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110. Search for intracranial aneurysm susceptibility gene(s) using Finnish families

Author: Ryynänen Markku, Hernesniemi Juha, Ronkainen Antti, Kuivaniemi Helena, Vongpunsawad Sompong, Olson Jane M, Kim Lee-Lian, and Tromp Gerard
Subjects: Internal medicine, RC31-1245, Genetics, QH426-470
Abstract: Abstract Background Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs cluster in families, and are therefore probably genetic. Identification of individuals at risk for developing IAs by genetic tests will allow concentration of diagnostic imaging on high-risk individuals. We used model-free linkage analysis based on allele sharing with a two-stage design for a genome-wide scan to identify chromosomal regions that may harbor IA loci. Methods We previously estimated sibling relative risk in the Finnish population at between 9 and 16, and proceeded with a genome-wide scan for loci predisposing to IA. In 85 Finnish families with two or more affected members, 48 affected sibling pairs (ASPs) were available for our genetic study. Power calculations indicated that 48 ASPs were adequate to identify chromosomal regions likely to harbor predisposing genes and that a liberal stage I lod score threshold of 0.8 provided a reasonable balance between detection of false positive regions and failure to detect real loci with moderate effect. Results Seven chromosomal regions exceeded the stage I lod score threshold of 0.8 and five exceeded 1.0. The most significant region, on chromosome 19q, had a maximum multipoint lod score (MLS) of 2.6. Conclusions Our study provides evidence for the locations of genes predisposing to IA. Further studies are necessary to elucidate the genes and their role in the pathophysiology of IA, and to design genetic tests.
Published: 2002
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111. High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus

Author: Bonavita Gina, Kuivaniemi Helena, Wang Xiaoju, Williams Charlene J, and Tromp Gerard
Subjects: Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract: Abstract Background The Blau syndrome (MIM 186580), an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region. Results We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial chromosomes, and spans approximately 7.5 Mbp; however, three gaps still exist in this map with sizes of 425, 530 and 375 kbp, respectively, estimated from radiation hybrid mapping. Conclusions Our high-resolution map will assist genetic studies of loci in the interval from D16S3080, near D16S409, and D16S408 (16q12.1 to 16q13).
Published: 2002
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112. Are There Genes for Aneurysms in the Blueprint of the Human Genome?

Author: Kuivaniemi, Helena
Published: 2004
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113. Risk Factor Assessment in a Greek Cohort of Patients With Large Abdominal Aortic Aneurysms

Author: Makrygiannis, Georgios, primary, Mourmoura, Evanthia, additional, Spanos, Konstantinos, additional, Roussas, Nikolaos, additional, Kuivaniemi, Helena, additional, Sakalihasan, Natzi, additional, Tsezou, Aspasia, additional, and Giannoukas, Athanasios, additional
Published: 2018
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114. Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

Author: Brownstein, Adam, additional, Kostiuk, Valentyna, additional, Ziganshin, Bulat, additional, Zafar, Mohammad, additional, Kuivaniemi, Helena, additional, Body, Simon, additional, Bale, Allen, additional, and Elefteriades, John, additional
Published: 2018
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115. Genetic Association of Lipids and Lipid Drug Targets With Abdominal Aortic Aneurysm

Author: Harrison, Seamus C., primary, Holmes, Michael V., additional, Burgess, Stephen, additional, Asselbergs, Folkert W., additional, Jones, Gregory T., additional, Baas, Annette F., additional, van ’t Hof, F. N., additional, de Bakker, Paul I. W., additional, Blankensteijn, Jan D., additional, Powell, Janet T., additional, Saratzis, Athanasios, additional, de Borst, Gert J., additional, Swerdlow, Daniel I., additional, van der Graaf, Yolanda, additional, van Rij, Andre M., additional, Carey, David J., additional, Elmore, James R., additional, Tromp, Gerard, additional, Kuivaniemi, Helena, additional, Sayers, Robert D., additional, Samani, Nilesh J., additional, Bown, Matthew J., additional, and Humphries, Steve E., additional
Published: 2018
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116. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study

Author: Haycock, Philip C., Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N., Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J., Evans, David M., Willeit, Peter, Aviv, Abraham, Gaunt, Tomr., Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M., Pooley, Karen A., Eeles, Rosalind A., Lee, Jeffrey E., Fang, Shenying, Chen, Wei V., Law, Matthew H., Bowdler, Lisa M., Iles, Mark M., Yang, Qiong, Worrall, Bradford B., Markus, Hugh Stephen, Hung, Rayjean J., Amos, Chris I., Spurdle, Amanda B., Thompson, Deborah J., O'Mara, Tracy A., Wolpin, Brian, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael, Trichopoulou, Antonia, Onland-Moret, Charlotte, Lund, Eiliv, Duell, Eric J., Canzian, Federico, Severi, Gianluca, Overvad, Kim, Gunter, Marc J., Tumino, Rosario, Svenson, Ulrika, van Rij, Andre, Baas, Annette F., Bown, Matthew J., Samani, Nilesh J., van t'Hof, Femke N. G., Tromp, Gerard, Jones, Gregory T., Kuivaniemi, Helena, Elmore, James R., Johansson, Mattias, Mckay, James, Scelo, Ghislaine, carreras-Torres, Robert, Gaborieau, Valerie, Brennan, Paul, Bracci, Paige M., Neale, Rachel E., Olson, Sara H., Gallinger, Steven, Li, Donghui, Petersen, Gloria M., Risch, Harvey A., Klein, Alison P., Han, Jiali, Abnet, Christian C., Freedman, Neal D., Taylor, Philip R., Maris, John M., Aben, Katja K., Kiemeney, Lambertus A., Vermeulen, Sita H., Wiencke, John K., Walsh, Kyle M., Wrensch, Margaret, Rice, Terri, Turnbull, Clare, Litchfield, Kevin, Paternoster, Lavinia, Standl, Marie, Abecasis, Goncalo R., SanGiovanni, John Paul, Li, Yong, Mijatovic, Vladan, Sapkota, Yadav, Low, Siew-Kee, Zondervan, Krina T., Montgomery, Grant W., Nyholt, Dale R., van Heel, David A., Hunt, Karen, Arking, Dan E., Ashar, Foram N., Sotoodehnia, Nona, Woo, Daniel, Rosand, Jonathan, Comeau, Mary E., Brown, W. Mark, Silverman, Edwin K., Hokanson, John E., Cho, Michael H., Hui, Jennie, Ferreira, Manuel A., Thompson, Philip J., Morrison, Alanna C., Felix, Janine F., Smith, Nicholas L., Christiano, Angela M., Petukhova, Lynn, Betz, Regina C., Fan, Xing, Zhang, Xuejun, Zhu, Caihong, Langefeld, Carl D., Thompson, Susan D., Wang, Feijie, Lin, Xu, Schwartz, David A., Fingerlin, Tasha, Rotter, Jerome I., Cotch, Mary Frances, Jensen, Richard A., Munz, Matthias, Dommisch, Henrik, Schaefer, Arne S., Han, Fang, Ollila, Hanna M., Hillary, Ryan P., Albagha, Omar, Ralston, Stuart H., Zeng, Chenjie, Zheng, Wei, Shu, Xiao-Ou, Reis, Andre, Uebe, Steffen, Hueffmeier, Ulrike, Kawamura, Yoshiya, Otowa, Takeshi, Sasaki, Tsukasa, Hibberd, Martin Lloyd, Davila, Sonia, Xie, Gang, Siminovitch, Katherine, Bei, Jin-Xin, Zeng, Yi-Xin, Foersti, Asta, Chen, Bowang, Landi, Stefano, Franke, Andre, Fischer, Annegret, Ellinghaus, David, Flores, Carlos, Noth, Imre, Ma, Shwu-Fan, Foo, Jia Nee, Liu, Jianjun, Kim, Jong-Won, Cox, David G., Delattre, Olivier, Mirabeau, Olivier, Skibola, Christine F., Tang, Clara S., Garcia-Barcelo, Merce, Chang, Kai-Ping, Su, Wen-Hui, Chang, Yu-Sun, Martin, Nicholas G., Gordon, Scott, Wade, Tracey D., Lee, Chaeyoung, Kubo, Michiaki, Cha, Pei-Chieng, Nakamura, Yusuke, Levy, Daniel, Kimura, Masayuki, Hwang, Shih-Jen, Hunt, Steven, Spector, Tim, Soranzo, Nicole, Manichaikul, Aniw., Barr, Graham, Kahali, Bratati, Speliotes, Elizabeth, Yerges-Armstrong, LauraM., Cheng, Ching-Yu, Jonas, Jost B., Wong, Tien Yin, Fogh, Isabella, Lin, Kuang, Powell, John F., Rice, Kenneth, Relton, Caroline L., Martin, Richard M., Smith, George Davey, Haycock, Philip C., Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N., Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J., Evans, David M., Willeit, Peter, Aviv, Abraham, Gaunt, Tomr., Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M., Pooley, Karen A., Eeles, Rosalind A., Lee, Jeffrey E., Fang, Shenying, Chen, Wei V., Law, Matthew H., Bowdler, Lisa M., Iles, Mark M., Yang, Qiong, Worrall, Bradford B., Markus, Hugh Stephen, Hung, Rayjean J., Amos, Chris I., Spurdle, Amanda B., Thompson, Deborah J., O'Mara, Tracy A., Wolpin, Brian, Amundadottir, Laufey, Stolzenberg-Solomon, Rachael, Trichopoulou, Antonia, Onland-Moret, Charlotte, Lund, Eiliv, Duell, Eric J., Canzian, Federico, Severi, Gianluca, Overvad, Kim, Gunter, Marc J., Tumino, Rosario, Svenson, Ulrika, van Rij, Andre, Baas, Annette F., Bown, Matthew J., Samani, Nilesh J., van t'Hof, Femke N. G., Tromp, Gerard, Jones, Gregory T., Kuivaniemi, Helena, Elmore, James R., Johansson, Mattias, Mckay, James, Scelo, Ghislaine, carreras-Torres, Robert, Gaborieau, Valerie, Brennan, Paul, Bracci, Paige M., Neale, Rachel E., Olson, Sara H., Gallinger, Steven, Li, Donghui, Petersen, Gloria M., Risch, Harvey A., Klein, Alison P., Han, Jiali, Abnet, Christian C., Freedman, Neal D., Taylor, Philip R., Maris, John M., Aben, Katja K., Kiemeney, Lambertus A., Vermeulen, Sita H., Wiencke, John K., Walsh, Kyle M., Wrensch, Margaret, Rice, Terri, Turnbull, Clare, Litchfield, Kevin, Paternoster, Lavinia, Standl, Marie, Abecasis, Goncalo R., SanGiovanni, John Paul, Li, Yong, Mijatovic, Vladan, Sapkota, Yadav, Low, Siew-Kee, Zondervan, Krina T., Montgomery, Grant W., Nyholt, Dale R., van Heel, David A., Hunt, Karen, Arking, Dan E., Ashar, Foram N., Sotoodehnia, Nona, Woo, Daniel, Rosand, Jonathan, Comeau, Mary E., Brown, W. Mark, Silverman, Edwin K., Hokanson, John E., Cho, Michael H., Hui, Jennie, Ferreira, Manuel A., Thompson, Philip J., Morrison, Alanna C., Felix, Janine F., Smith, Nicholas L., Christiano, Angela M., Petukhova, Lynn, Betz, Regina C., Fan, Xing, Zhang, Xuejun, Zhu, Caihong, Langefeld, Carl D., Thompson, Susan D., Wang, Feijie, Lin, Xu, Schwartz, David A., Fingerlin, Tasha, Rotter, Jerome I., Cotch, Mary Frances, Jensen, Richard A., Munz, Matthias, Dommisch, Henrik, Schaefer, Arne S., Han, Fang, Ollila, Hanna M., Hillary, Ryan P., Albagha, Omar, Ralston, Stuart H., Zeng, Chenjie, Zheng, Wei, Shu, Xiao-Ou, Reis, Andre, Uebe, Steffen, Hueffmeier, Ulrike, Kawamura, Yoshiya, Otowa, Takeshi, Sasaki, Tsukasa, Hibberd, Martin Lloyd, Davila, Sonia, Xie, Gang, Siminovitch, Katherine, Bei, Jin-Xin, Zeng, Yi-Xin, Foersti, Asta, Chen, Bowang, Landi, Stefano, Franke, Andre, Fischer, Annegret, Ellinghaus, David, Flores, Carlos, Noth, Imre, Ma, Shwu-Fan, Foo, Jia Nee, Liu, Jianjun, Kim, Jong-Won, Cox, David G., Delattre, Olivier, Mirabeau, Olivier, Skibola, Christine F., Tang, Clara S., Garcia-Barcelo, Merce, Chang, Kai-Ping, Su, Wen-Hui, Chang, Yu-Sun, Martin, Nicholas G., Gordon, Scott, Wade, Tracey D., Lee, Chaeyoung, Kubo, Michiaki, Cha, Pei-Chieng, Nakamura, Yusuke, Levy, Daniel, Kimura, Masayuki, Hwang, Shih-Jen, Hunt, Steven, Spector, Tim, Soranzo, Nicole, Manichaikul, Aniw., Barr, Graham, Kahali, Bratati, Speliotes, Elizabeth, Yerges-Armstrong, LauraM., Cheng, Ching-Yu, Jonas, Jost B., Wong, Tien Yin, Fogh, Isabella, Lin, Kuang, Powell, John F., Rice, Kenneth, Relton, Caroline L., Martin, Richard M., and Smith, George Davey
Abstract: IMPORTANCE: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. OBJECTIVE: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. DATA SOURCES: Genomewide association studies (GWAS) published up to January 15, 2015. STUDY SELECTION: GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. DATA EXTRACTION AND SYNTHESIS: Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. MAIN OUTCOMES AND MEASURES: Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. RESULTS: Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420 081 cases (median cases, 2526 per disease) and 1 093 105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [ 95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer c
Published: 2017
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117. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

Author: Holzinger, Emily R., Verma, Shefali S., Moore, Carrie B., Hall, Molly, De, Rishika, Gilbert-Diamond, Diane, Lanktree, Matthew B., Pankratz, Nathan, Amuzu, Antoinette, Burt, Amber, Dale, Caroline, Dudek, Scott, Furlong, Clement E., Gaunt, Tom R., Kim, Daniel Seung, Riess, Helene, Sivapalaratnam, Suthesh, Tragante, Vinicius, Van Iperen, Erik P.A., Brautbar, Ariel, Carrell, David S., Crosslin, David R., Jarvik, Gail P., Kuivaniemi, Helena, Kullo, Iftikhar J., Larson, Eric B., Rasmussen-Torvik, Laura J., Tromp, Gerard, Baumert, Jens, Cruickshanks, Karen J., Farrall, Martin, Hingorani, Aroon D., Hovingh, G. K., Kleber, Marcus E., Klein, Barbara E., Klein, Ronald, Koenig, Wolfgang, Lange, Leslie A., MOrz, Winfried, North, Kari E., Charlotte Onland-Moret, N., Reiner, Alex P., Talmud, Philippa J., Van Der Schouw, Yvonne T., Wilson, James G., Kivimaki, Mika, Kumari, Meena, Moore, Jason H., Drenos, Fotios, Asselbergs, Folkert W., Keating, Brendan J., Ritchie, Marylyn D., Holzinger, Emily R., Verma, Shefali S., Moore, Carrie B., Hall, Molly, De, Rishika, Gilbert-Diamond, Diane, Lanktree, Matthew B., Pankratz, Nathan, Amuzu, Antoinette, Burt, Amber, Dale, Caroline, Dudek, Scott, Furlong, Clement E., Gaunt, Tom R., Kim, Daniel Seung, Riess, Helene, Sivapalaratnam, Suthesh, Tragante, Vinicius, Van Iperen, Erik P.A., Brautbar, Ariel, Carrell, David S., Crosslin, David R., Jarvik, Gail P., Kuivaniemi, Helena, Kullo, Iftikhar J., Larson, Eric B., Rasmussen-Torvik, Laura J., Tromp, Gerard, Baumert, Jens, Cruickshanks, Karen J., Farrall, Martin, Hingorani, Aroon D., Hovingh, G. K., Kleber, Marcus E., Klein, Barbara E., Klein, Ronald, Koenig, Wolfgang, Lange, Leslie A., MOrz, Winfried, North, Kari E., Charlotte Onland-Moret, N., Reiner, Alex P., Talmud, Philippa J., Van Der Schouw, Yvonne T., Wilson, James G., Kivimaki, Mika, Kumari, Meena, Moore, Jason H., Drenos, Fotios, Asselbergs, Folkert W., Keating, Brendan J., and Ritchie, Marylyn D.
Published: 2017

118. SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

Author: Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E., Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathias, Lyytikainen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A., Boeger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Comelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D., Feitosa, Mary F., Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpelainen, Tuomas, Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Maegi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta, Ruderfer, Douglas, Salvi, Erika, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V., Smith, Jennifer A., Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J., Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans, Esko, Tonu, Franco, Oscar H., Fulop, Tibor, Gerhard, Glenn S., Gluemer, Charlotte, Gottesman, Omri, Grarup, Niels, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jorgensen, Torben, Jorgensen, Marit E., Kaehoenen, Mika, Kardia, Sharon L. R., Koenig, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer, Launer, Lenore J., Lauritzen, Torsten, Lehtimaki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F., Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nuernberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T., Uitterlinden, Andre G., Ulivi, Sheila, Velayutham, Dinesh, Voelker, Uwe, Volzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R., Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Koettgen, Anna, Chu, Audrey Y., Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E., Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathias, Lyytikainen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A., Boeger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Comelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D., Feitosa, Mary F., Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpelainen, Tuomas, Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Maegi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta, Ruderfer, Douglas, Salvi, Erika, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V., Smith, Jennifer A., Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J., Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans, Esko, Tonu, Franco, Oscar H., Fulop, Tibor, Gerhard, Glenn S., Gluemer, Charlotte, Gottesman, Omri, Grarup, Niels, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jorgensen, Torben, Jorgensen, Marit E., Kaehoenen, Mika, Kardia, Sharon L. R., Koenig, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer, Launer, Lenore J., Lauritzen, Torsten, Lehtimaki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F., Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nuernberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T., Uitterlinden, Andre G., Ulivi, Sheila, Velayutham, Dinesh, Voelker, Uwe, Volzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R., Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Koettgen, Anna, and Chu, Audrey Y.
Abstract: Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (n(stage1);111,666;n(stage2): 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; P-stage1<3.7 x10(-7)), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 (P=5.4x 10(-8) by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2-knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.
Published: 2017

119. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

Author: Arts Assistenten Cardiologie, Circulatory Health, Onderzoek Precision medicine, Cardiovasculaire Epi Team 3, Brain, Cancer, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, JC onderzoeksprogramma Kanker, Cardiovasculaire Epidemiologie, Holzinger, Emily R., Verma, Shefali S., Moore, Carrie B., Hall, Molly, De, Rishika, Gilbert-Diamond, Diane, Lanktree, Matthew B., Pankratz, Nathan, Amuzu, Antoinette, Burt, Amber, Dale, Caroline, Dudek, Scott, Furlong, Clement E., Gaunt, Tom R., Kim, Daniel Seung, Riess, Helene, Sivapalaratnam, Suthesh, Tragante, Vinicius, Van Iperen, Erik P.A., Brautbar, Ariel, Carrell, David S., Crosslin, David R., Jarvik, Gail P., Kuivaniemi, Helena, Kullo, Iftikhar J., Larson, Eric B., Rasmussen-Torvik, Laura J., Tromp, Gerard, Baumert, Jens, Cruickshanks, Karen J., Farrall, Martin, Hingorani, Aroon D., Hovingh, G. K., Kleber, Marcus E., Klein, Barbara E., Klein, Ronald, Koenig, Wolfgang, Lange, Leslie A., MOrz, Winfried, North, Kari E., Charlotte Onland-Moret, N., Reiner, Alex P., Talmud, Philippa J., Van Der Schouw, Yvonne T., Wilson, James G., Kivimaki, Mika, Kumari, Meena, Moore, Jason H., Drenos, Fotios, Asselbergs, Folkert W., Keating, Brendan J., Ritchie, Marylyn D., Arts Assistenten Cardiologie, Circulatory Health, Onderzoek Precision medicine, Cardiovasculaire Epi Team 3, Brain, Cancer, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, JC onderzoeksprogramma Kanker, Cardiovasculaire Epidemiologie, Holzinger, Emily R., Verma, Shefali S., Moore, Carrie B., Hall, Molly, De, Rishika, Gilbert-Diamond, Diane, Lanktree, Matthew B., Pankratz, Nathan, Amuzu, Antoinette, Burt, Amber, Dale, Caroline, Dudek, Scott, Furlong, Clement E., Gaunt, Tom R., Kim, Daniel Seung, Riess, Helene, Sivapalaratnam, Suthesh, Tragante, Vinicius, Van Iperen, Erik P.A., Brautbar, Ariel, Carrell, David S., Crosslin, David R., Jarvik, Gail P., Kuivaniemi, Helena, Kullo, Iftikhar J., Larson, Eric B., Rasmussen-Torvik, Laura J., Tromp, Gerard, Baumert, Jens, Cruickshanks, Karen J., Farrall, Martin, Hingorani, Aroon D., Hovingh, G. K., Kleber, Marcus E., Klein, Barbara E., Klein, Ronald, Koenig, Wolfgang, Lange, Leslie A., MOrz, Winfried, North, Kari E., Charlotte Onland-Moret, N., Reiner, Alex P., Talmud, Philippa J., Van Der Schouw, Yvonne T., Wilson, James G., Kivimaki, Mika, Kumari, Meena, Moore, Jason H., Drenos, Fotios, Asselbergs, Folkert W., Keating, Brendan J., and Ritchie, Marylyn D.
Published: 2017

120. Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

Author: Genetica Klinische Genetica, Circulatory Health, CMM Groep Kaaij, Brain, Infection & Immunity, Jones, Gregory T, Tromp, Gerard, Kuivaniemi, Helena, Gretarsdottir, Solveig, Baas, Annette F, Giusti, Betti, Strauss, Ewa, Van't Hof, Femke N G, Webb, Thomas R, Erdman, Robert, Ritchie, Marylyn D, Elmore, James R, Verma, Anurag, Pendergrass, Sarah, Kullo, Iftikhar J, Ye, Zi, Peissig, Peggy L, Gottesman, Omri, Verma, Shefali S, Malinowski, Jennifer, Rasmussen-Torvik, Laura J, Borthwick, Kenneth M, Smelser, Diane T, Crosslin, David R, de Andrade, Mariza, Ryer, Evan J, McCarty, Catherine A, Böttinger, Erwin P, Pacheco, Jennifer A, Crawford, Dana C, Carrell, David S, Gerhard, Glenn S, Franklin, David P, Carey, David J, Phillips, Victoria L, Williams, Michael J A, Wei, Wenhua, Blair, Ross, Hill, Andrew A, Vasudevan, Thodor M, Lewis, David R, Thomson, Ian A, Krysa, Jo, Hill, Geraldine B, Roake, Justin, Merriman, Tony R, Oszkinis, Grzegorz, Galora, Silvia, Saracini, Claudia, Abbate, Rosanna, Pulli, Raffaele, Pratesi, Carlo, Saratzis, Athanasios, Verissimo, Ana R, Bumpstead, Suzannah, Badger, Stephen A, Clough, Rachel E, Cockerill, Gillian, Hafez, Hany, Scott, D Julian A, Futers, T Simon, Romaine, Simon P R, Bridge, Katherine, Griffin, Kathryn J, Bailey, Marc A, Smith, Alberto, Thompson, Matthew M, van Bockxmeer, Frank M, Matthiasson, Stefan E, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Blankensteijn, Jan D, Teijink, Joep A W, Wijmenga, Cisca, de Graaf, Jacqueline, Kiemeney, Lambertus A, Lindholt, Jes S, Hughes, Anne, Bradley, Declan T, Stirrups, Kathleen, Golledge, Jonathan, Norman, Paul E, Powell, Janet T, Humphries, Steve E, Hamby, Stephen E, Goodall, Alison H, Nelson, Christopher P, Sakalihasan, Natzi, Courtois, Audrey, Ferrell, Robert E, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Eicher, John D, Johnson, Andrew D, Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E, Björkegren, Johan L M, Lipovich, Leonard, Drolet, Anne M, Verhoeven, Eric L, Zeebregts, Clark J, Geelkerken, Robert H, van Sambeek, Marc R, van Sterkenburg, Steven M, de Vries, Jean-Paul, Stefansson, Kari, Thompson, John R, de Bakker, Paul I W, Deloukas, Panos, Sayers, Robert D, Harrison, Seamus C, van Rij, Andre M, Samani, Nilesh J, Bown, Matthew J, Genetica Klinische Genetica, Circulatory Health, CMM Groep Kaaij, Brain, Infection & Immunity, Jones, Gregory T, Tromp, Gerard, Kuivaniemi, Helena, Gretarsdottir, Solveig, Baas, Annette F, Giusti, Betti, Strauss, Ewa, Van't Hof, Femke N G, Webb, Thomas R, Erdman, Robert, Ritchie, Marylyn D, Elmore, James R, Verma, Anurag, Pendergrass, Sarah, Kullo, Iftikhar J, Ye, Zi, Peissig, Peggy L, Gottesman, Omri, Verma, Shefali S, Malinowski, Jennifer, Rasmussen-Torvik, Laura J, Borthwick, Kenneth M, Smelser, Diane T, Crosslin, David R, de Andrade, Mariza, Ryer, Evan J, McCarty, Catherine A, Böttinger, Erwin P, Pacheco, Jennifer A, Crawford, Dana C, Carrell, David S, Gerhard, Glenn S, Franklin, David P, Carey, David J, Phillips, Victoria L, Williams, Michael J A, Wei, Wenhua, Blair, Ross, Hill, Andrew A, Vasudevan, Thodor M, Lewis, David R, Thomson, Ian A, Krysa, Jo, Hill, Geraldine B, Roake, Justin, Merriman, Tony R, Oszkinis, Grzegorz, Galora, Silvia, Saracini, Claudia, Abbate, Rosanna, Pulli, Raffaele, Pratesi, Carlo, Saratzis, Athanasios, Verissimo, Ana R, Bumpstead, Suzannah, Badger, Stephen A, Clough, Rachel E, Cockerill, Gillian, Hafez, Hany, Scott, D Julian A, Futers, T Simon, Romaine, Simon P R, Bridge, Katherine, Griffin, Kathryn J, Bailey, Marc A, Smith, Alberto, Thompson, Matthew M, van Bockxmeer, Frank M, Matthiasson, Stefan E, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Blankensteijn, Jan D, Teijink, Joep A W, Wijmenga, Cisca, de Graaf, Jacqueline, Kiemeney, Lambertus A, Lindholt, Jes S, Hughes, Anne, Bradley, Declan T, Stirrups, Kathleen, Golledge, Jonathan, Norman, Paul E, Powell, Janet T, Humphries, Steve E, Hamby, Stephen E, Goodall, Alison H, Nelson, Christopher P, Sakalihasan, Natzi, Courtois, Audrey, Ferrell, Robert E, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Eicher, John D, Johnson, Andrew D, Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E, Björkegren, Johan L M, Lipovich, Leonard, Drolet, Anne M, Verhoeven, Eric L, Zeebregts, Clark J, Geelkerken, Robert H, van Sambeek, Marc R, van Sterkenburg, Steven M, de Vries, Jean-Paul, Stefansson, Kari, Thompson, John R, de Bakker, Paul I W, Deloukas, Panos, Sayers, Robert D, Harrison, Seamus C, van Rij, Andre M, Samani, Nilesh J, and Bown, Matthew J
Published: 2017

121. Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

Author: Experimentele Afd. Cardiologie 1, Circulatory Health, Cardiologie, De, Rishika, Verma, Shefali S, Holzinger, Emily, Hall, Molly, Burt, Amber, Carrell, David S, Crosslin, David R, Jarvik, Gail P, Kuivaniemi, Helena, Kullo, Iftikhar J, Lange, Leslie A, Lanktree, Matthew B, Larson, Eric B, North, Kari E, Reiner, Alex P, Tragante , Vinicius, Tromp, Gerard, Wilson, James G, Asselbergs, Folkert W, Drenos, Fotios, Moore, Jason H, Ritchie, Marylyn D, Keating, Brendan, Gilbert-Diamond, Diane, Experimentele Afd. Cardiologie 1, Circulatory Health, Cardiologie, De, Rishika, Verma, Shefali S, Holzinger, Emily, Hall, Molly, Burt, Amber, Carrell, David S, Crosslin, David R, Jarvik, Gail P, Kuivaniemi, Helena, Kullo, Iftikhar J, Lange, Leslie A, Lanktree, Matthew B, Larson, Eric B, North, Kari E, Reiner, Alex P, Tragante , Vinicius, Tromp, Gerard, Wilson, James G, Asselbergs, Folkert W, Drenos, Fotios, Moore, Jason H, Ritchie, Marylyn D, Keating, Brendan, and Gilbert-Diamond, Diane
Published: 2017

122. Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

Author: Jones, Gregory T, Tromp, Gerard, Kuivaniemi, Helena, Gretarsdottir, Solveig, Baas, Annette F, Giusti, Betti, Strauss, Ewa, Van't Hof, Femke N G, Webb, Thomas R, Erdman, Robert, Ritchie, Marylyn D, Elmore, James R, Verma, Anurag, Pendergrass, Sarah, Kullo, Iftikhar J, Ye, Zi, Peissig, Peggy L, Gottesman, Omri, Verma, Shefali S, Malinowski, Jennifer, Rasmussen-Torvik, Laura J, Borthwick, Kenneth M, Smelser, Diane T, Crosslin, David R, de Andrade, Mariza, Ryer, Evan J, McCarty, Catherine A, Böttinger, Erwin P, Pacheco, Jennifer A, Crawford, Dana C, Carrell, David S, Gerhard, Glenn S, Franklin, David P, Carey, David J, Phillips, Victoria L, Williams, Michael J A, Wei, Wenhua, Blair, Ross, Hill, Andrew A, Vasudevan, Thodor M, Lewis, David R, Thomson, Ian A, Krysa, Jo, Hill, Geraldine B, Roake, Justin, Merriman, Tony R, Oszkinis, Grzegorz, Galora, Silvia, Saracini, Claudia, Abbate, Rosanna, Pulli, Raffaele, Pratesi, Carlo, Saratzis, Athanasios, Verissimo, Ana R, Bumpstead, Suzannah, Badger, Stephen A, Clough, Rachel E, Cockerill, Gillian, Hafez, Hany, Scott, D Julian A, Futers, T Simon, Romaine, Simon P R, Bridge, Katherine, Griffin, Kathryn J, Bailey, Marc A, Smith, Alberto, Thompson, Matthew M, van Bockxmeer, Frank M, Matthiasson, Stefan E, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Blankensteijn, Jan D, Teijink, Joep A W, Wijmenga, Cisca, de Graaf, Jacqueline, Kiemeney, Lambertus A, Lindholt, Jes S, Hughes, Anne, Bradley, Declan T, Stirrups, Kathleen, Golledge, Jonathan, Norman, Paul E, Powell, Janet T, Humphries, Steve E, Hamby, Stephen E, Goodall, Alison H, Nelson, Christopher P, Sakalihasan, Natzi, Courtois, Audrey, Ferrell, Robert E, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Eicher, John D, Johnson, Andrew D, Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E, Björkegren, Johan L M, Lipovich, Leonard, Drolet, Anne M, Verhoeven, Eric L, Zeebregts, Clark J, Geelkerken, Robert H, van Sambeek, Marc R, van Sterkenburg, Steven M, de Vries, J.P.P.M., Stefansson, Kari, Thompson, John R, de Bakker, Paul I W, Deloukas, Panos, Sayers, Robert D, Harrison, Seamus C, van Rij, Andre M, Samani, Nilesh J, Bown, Matthew J, Surgery, ICaR - Ischemia and repair, ACS - Microcirculation, and ACS - Atherosclerosis & ischemic syndromes
Subjects: Cardiac & Cardiovascular Systems, aortic aneurysm abdominal, computational biology, Cardiac and Cardiovascular Systems, genetics, Aortic Aneurysm, Abdominal/diagnosis, genome-wide association study, matrix metalloproteinases, meta-analysis, Aortic Aneurysm, Abdominal, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Physiology, Cardiology and Cardiovascular Medicine, Kardiologi, Hematology, C-REACTIVE PROTEIN, TRANSCRIPTION FACTORS, Genetic Variation/genetics, DENSITY-LIPOPROTEIN CHOLESTEROL, Genetic Loci/genetics, Genome-Wide Association Study/methods, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, abdominal, cardiovascular system, CORONARY-ARTERY-DISEASE, aortic aneurysm, Life Sciences & Biomedicine, aortic aneurysm, abdominal, SUSCEPTIBILITY LOCI, 1102 Cardiovascular Medicine And Haematology, Article, SDG 3 - Good Health and Well-being, Genetic Predisposition to Disease/epidemiology, Journal Article, CANDIDATE GENE ASSOCIATION, Hematologi, cardiovascular diseases, Science & Technology, genome-wide association study ■ matrix metalloproteinases, ELECTRONIC MEDICAL-RECORDS, HUMAN PREFRONTAL CORTEX, 1103 Clinical Sciences, Atherosclerosis, Peripheral Vascular Disease, Cardiovascular System & Hematology, SEQUENCE VARIANT, RECEPTOR-RELATED PROTEIN-1, Cardiovascular System & Cardiology, Clinical Track
Abstract: Supplemental Digital Content is available in the text., Rationale: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. Objective: To identify additional AAA risk loci using data from all available genome-wide association studies. Methods and Results: Through a meta-analysis of 6 genome-wide association study data sets and a validation study totaling 10 204 cases and 107 766 controls, we identified 4 new AAA risk loci: 1q32.3 (SMYD2), 13q12.11 (LINC00540), 20q13.12 (near PCIF1/MMP9/ZNF335), and 21q22.2 (ERG). In various database searches, we observed no new associations between the lead AAA single nucleotide polymorphisms and coronary artery disease, blood pressure, lipids, or diabetes mellitus. Network analyses identified ERG, IL6R, and LDLR as modifiers of MMP9, with a direct interaction between ERG and MMP9. Conclusions: The 4 new risk loci for AAA seem to be specific for AAA compared with other cardiovascular diseases and related traits suggesting that traditional cardiovascular risk factor management may only have limited value in preventing the progression of aneurysmal disease.
Published: 2016
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123. Shared genetic risk factors of intracranial, abdominal, and thoracic aneurysms

Author: van 't Hof, Femke N G, Ruigrok, Ynte M, Lee, Cue Hyunkyu, Ripke, Stephan, Anderson, Graig, de Andrade, Mariza, Baas, Annette F, Blankensteijn, Jan D, Böttinger, Erwin P, Bown, Matthew J, Broderick, Joseph, Bijlenga, Philippe, Carrell, David S, Crawford, Dana C, Crosslin, David R, Ebeling, Christian, Eriksson, Johan G, Fornage, Myriam, Foroud, Tatiana, von Und Zu Fraunberg, Mikael, Friedrich, Christoph M, Gaál, Emília I, Gottesman, Omri, Guo, Dong-Chuan, Harrison, Seamus C, Hernesniemi, Juha, Hofman, Albert, Inoue, Ituro, Jääskeläinen, Juha E, Jones, Gregory T, Kiemeney, Lambertus A L M, Kivisaari, Riku, Ko, Nerissa, Koskinen, Seppo, Kubo, Michiaki, Kullo, Iftikhar J, Kuivaniemi, Helena, Kurki, Mitja I, Laakso, Aki, Lai, Dongbing, Leal, Suzanne M, Lehto, Hanna, LeMaire, Scott A, Low, Siew-Kee, Malinowski, Jennifer, McCarty, Catherine A, Milewicz, Dianna M, Mosley, Thomas H, Rinkel, Gabriël J E, de Bakker, Paul I W, Aneurysm Consortium, and Vascular Research Consortium of New Zealand
Subjects: abdominal aortic aneurysm, thoracic aortic aneurysm, Journal Article, intracranial aneurysm, genome wide association study
Abstract: Background--Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. Methods and Results--We performed a mega-analysis of 1000 Genomes Project-imputed genome-wide association study (GWAS) data of 4 previously published aneurysm cohorts: 2 IA cohorts (in total 1516 cases, 4305 controls), 1 AAA cohort (818 cases, 3004 controls), and 1 TAA cohort (760 cases, 2212 controls), and observed associations of 4 known IA, AAA, and/or TAA risk loci (9p21, 18q11, 15q21, and 2q33) with consistent effect directions in all 4 cohorts. We calculated polygenic scores based on IA-, AAA-, and TAA-associated SNPs and tested these scores for association to case-control status in the other aneurysm cohorts; this revealed no shared polygenic effects. Similarly, linkage disequilibrium-score regression analyses did not show significant correlations between any pair of aneurysm subtypes. Last, we evaluated the evidence for 14 previously published aneurysm risk singlenucleotide polymorphisms through collaboration in extended aneurysm cohorts, with a total of 6548 cases and 16 843 controls (IA) and 4391 cases and 37 904 controls (AAA), and found nominally significant associations for IA risk locus 18q11 near RBBP8 to AAA (odds ratio [OR]=1.11; P=4.1910-5) and for TAA risk locus 15q21 near FBN1 to AAA (OR=1.07; P=1.1910-3). Conclusions--Although there was no evidence for polygenic overlap between IAs, AAAs, and TAAs, we found nominally significant effects of two established risk loci for IAs and TAAs in AAAs. These two loci will require further replication.
Published: 2016

124. Matricellular protein CCN3 mitigates abdominal aortic aneurysm

Author: Tweedie, Susan, Bruford, Elspeth, Yeger, Herman, Brigstock, David, Fisher, Gary, Lau, Lester, Hutchenreuther, James, Vincent, Krista, Norley, Chris, Racanelli, Michael, Gruber, Stephen, Johnson, Timothy, Fullen, Douglas, Raskin, Leon, Holdsworth, David, Postovit, Lynne-Marie, Leask, Andrew, Pasupuleti, Vinay, Hu, Xingjian, Wu, Wenconghui, Shi, Shitong, Mohammad, Haneen, Klenotic, Philip, Dombrowski, Yvonne, O'Hagan, Thomas, Dittmer, Marie, Penalva, Rosana, Mayoral, Sonia, Bankhead, Peter, Fleville, Samara, Eleftheriadis, George, Zhao, Chao, Naughton, Michelle, Hassan, Rachel, Moffat, Jill, Falconer, John, Boyd, Amanda, Hamilton, Peter, Allen, Ingrid, Kissenpfennig, Adrien, Moynagh, Paul, Evergren, Emma, Williams, Anna, Ingram, Rebecca, Chan, Jonah, Franklin, Robin, Fitzgerald, Denise, Fong, Ka-wing, Zhao, Jonathan, Kim, Jung, Li, Shangze, Yang, Yeqing, Song, Bing, Rittie, Laure, Hu, Ming, Yang, Ximing, Yu, Jindan, Zhang, Chao, van der Voort, Dustin, Shi, Hong, Zhang, Rongli, Qing, Yulan, Hiraoka, Shuichi, Takemoto, Minoru, Yokote, Koutaro, Moxon, Joseph, Norman, Paul, Rittié, Laure, Kuivaniemi, Helena, Atkins, G. Brandon, Gerson, Stanton, Shi, Guo-Ping, Golledge, Jonathan, Dong, Nianguo, perbal, bernard, Prosdocimo, Domenick, Lin, Zhiyong, Department of Internal Medicine, Epidemiology, Human Genetics, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, University of Leeds, Chinese Academy of Sciences [Changchun Branch] (CAS), Centre d'Immunologie de Marseille - Luminy (CIML), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Conway Institute of Biomolecular and Biomedical Research, University College Dublin [Dublin] (UCD), Centre for Cancer Research and Cell Biology, Queen's University [Belfast] (QUB), MRC Centre for Stem Cell Biology and Regenerative Medicine, Department of Pathology, Yale University School of Medicine, University of Aberdeen, Northwestern University Feinberg School of Medicine, China Agricultural University (CAU), Kobe Pharmaceutical University, Departments of Chemistry and of Structural Biology, Stanford University, Pathologie et virologie moléculaire (PVM (UMR_7151)), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Department of Computer Science [Victoria], University of Victoria [Canada] (UVIC), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Yale School of Medicine [New Haven, Connecticut] (YSM), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and perbal, bernard
Subjects: [SHS.EDU]Humanities and Social Sciences/Education, [SHS.EDU] Humanities and Social Sciences/Education, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2016

125. A review of genome-wide transcriptomics studies in Parkinson's disease

Author: Borrageiro, Genevie, primary, Haylett, William, additional, Seedat, Soraya, additional, Kuivaniemi, Helena, additional, and Bardien, Soraya, additional
Published: 2017
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126. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

Author: Holzinger, Emily R., primary, Verma, Shefali S., additional, Moore, Carrie B., additional, Hall, Molly, additional, De, Rishika, additional, Gilbert-Diamond, Diane, additional, Lanktree, Matthew B., additional, Pankratz, Nathan, additional, Amuzu, Antoinette, additional, Burt, Amber, additional, Dale, Caroline, additional, Dudek, Scott, additional, Furlong, Clement E., additional, Gaunt, Tom R., additional, Kim, Daniel Seung, additional, Riess, Helene, additional, Sivapalaratnam, Suthesh, additional, Tragante, Vinicius, additional, van Iperen, Erik P.A., additional, Brautbar, Ariel, additional, Carrell, David S., additional, Crosslin, David R., additional, Jarvik, Gail P., additional, Kuivaniemi, Helena, additional, Kullo, Iftikhar J., additional, Larson, Eric B., additional, Rasmussen-Torvik, Laura J., additional, Tromp, Gerard, additional, Baumert, Jens, additional, Cruickshanks, Karen J., additional, Farrall, Martin, additional, Hingorani, Aroon D., additional, Hovingh, G. K., additional, Kleber, Marcus E., additional, Klein, Barbara E., additional, Klein, Ronald, additional, Koenig, Wolfgang, additional, Lange, Leslie A., additional, Mӓrz, Winfried, additional, North, Kari E., additional, Charlotte Onland-Moret, N., additional, Reiner, Alex P., additional, Talmud, Philippa J., additional, van der Schouw, Yvonne T., additional, Wilson, James G., additional, Kivimaki, Mika, additional, Kumari, Meena, additional, Moore, Jason H., additional, Drenos, Fotios, additional, Asselbergs, Folkert W., additional, Keating, Brendan J., additional, and Ritchie, Marylyn D., additional
Published: 2017
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127. Smooth muscle cell-specific Notch1 haploinsufficiency restricts the progression of abdominal aortic aneurysm by modulating CTGF expression

Author: Sachdeva, Jaspreet, primary, Mahajan, Advitiya, additional, Cheng, Jeeyun, additional, Baeten, Jeremy T., additional, Lilly, Brenda, additional, Kuivaniemi, Helena, additional, and Hans, Chetan P., additional
Published: 2017
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128. Genes Associated with Thoracic Aortic Aneurysm and Dissection

Author: Brownstein, Adam, additional, Ziganshin, Bulat, additional, Kuivaniemi, Helena, additional, Body, Simon, additional, Bale, Allen, additional, and Elefteriades, John, additional
Published: 2017
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129. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis

Author: Freitag, Daniel F., Butterworth, Adam S., Willeit, Peter, Howson, Joanna M.M., Burgess, Stephen, Kaptoge, Stephen, Young, Robin, Ho, Weang Kee, Wood, Angela M., Sweeting, Michael, Spackman, Sarah, Staley, James R., Ramond, Anna, Harshfield, Eric, Nielsen, Sune F., Grande, Peer, Lange, Leslie A., Brown, Matthew J., Jones, Gregory T., Scott, Robert A., Bevan, Steve, Porcu, Eleonora, Thorleifsson, Gudmar, Zeng, Lingyao, Kessler, Thorsten, Nikpay, Majid, Do, Ron, Zhang, Weihua, Hopewell, Jemma C., Kleber, Marcus, Delgado, Graciela E., Nelson, Christopher P., Goel, Anuj, Bis, Joshua C., Dehghan, Abbas, Ligthart, Symen, Smith, Albert V., Qu, Liming, van ‘t Hof, Femke N.G., de Bakker, Paul I.W., Baas, Annette F., van Rij, Andre, Tromp, Gerard, Kuivaniemi, Helena, Ritchie, Marylyn D., Verma, Shefali S., Crawford, Dana C., Malinowski, Jennifer, de Andrade, Mariza, Kullo, Iftikhar J., Peissig, Peggy L., McCarty, Catherine A., Böttinger, Erwin P., Gottesman, Omri, Crosslin, David R., Carrell, David S., Rasmussen-Torvik, Laura J., Pacheco, Jennifer A., Huang, Jie, Timpson, Nicholas J., Ala-Korpela, Mika, Mitchell, Gary F., Parsa, Afshin, Wilkinson, Ian B., Gorski, Mathias, Li, Yong, Keller, Margaux F., Ganesh, Santhi K., Langefeld, Carl D., Bruijn, Lucie, Brown, Matthew A., Evans, David M., Baltic, Svetlana, Ferreira, Manuel A., Baurecht, Hansjörg, Weidinger, Stephan, Franke, Andre, Lubitz, Steven A., Müller-Nurasyid, Martina, Felix, Janine F., Smith, Nicholas L., Thompson, Susan D., Zeggini, Eleftheria, Panoutsopoulou, Kalliope, Nalls, Mike A., Singleon, Andrew, Bradfield, Jonathan P., Hakonarson, Hakon, Easton, Douglas F., Thompson, Deborah, Tomlinson, Ian P., Dunlop, Malcolm, Hemminki, Kari, Morgan, Gareth, Eisen, Timothy, Goldschmidt, Hartmut, Allan, James M., Henrion, Marc, Whiffin, Nicola, Wang, Yufei, Chubb, Daniel, Houlston, Richard S., Iles, Mark M., Bishop, D. Timothy, Law, Matthew H., Hayward, Nicholas K., Luo, Yang, Nejentsev, Sergey, Barbalic, Maja, Crossman, David, Sanna, Serena, Soranzo, Nicole, Markus, Hugh S., Wareham, Nicholas J., Rader, Daniel J., Reilly, Muredach, Assimes, Themistocles, Harris, Tamara B., Hofman, Albert, Franco, Oscar H., Gudnasson, Vilmundur, Tracy, Russell, Psaty, Bruce M., Farrall, Martin, Watkins, Hugh, Hall, Alistair S., Samani, Nilesh J., März, Winfried, Clarke, Robert, Collins, Rory, Kooner, Jaspal S., Chambers, John C., Kathiresan, Sekhar, McPherson, Ruth, Erdmann, Jeanette, Kastrati, Adnan, Schunkert, Heribert, Stefánsson, Kári, Thorsteindottir, Unnur, Walston, Jeremy D., Tybjærg-Hansen, Anne, Alam, Dewan S., Al Shafi Majumder, Abdullah, Di Angelantonio, Emanuele, Chowdhury, Rajiv, Nordestgaard, Børge G., Saleheen, Danish, Thompson, Simon G., and Danesh, John
Abstract: BACKGROUND: \ud \ud To investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation.\ud \ud METHODS: \ud \ud We created a genetic score combining the effects of alleles of two common variants (rs6743376 and rs1542176) that are located upstream of IL1RN, the gene encoding the IL-1 receptor antagonist (IL-1Ra; an endogenous inhibitor of both IL-1α and IL-1β); both alleles increase soluble IL-1Ra protein concentration. We compared effects on inflammation biomarkers of this genetic score with those of anakinra, the recombinant form of IL-1Ra, which has previously been studied in randomised trials of rheumatoid arthritis and other inflammatory disorders. In primary analyses, we investigated the score in relation to rheumatoid arthritis and four cardiometabolic diseases (type 2 diabetes, coronary heart disease, ischaemic stroke, and abdominal aortic aneurysm; 453,411 total participants). In exploratory analyses, we studied the relation of the score to many disease traits and to 24 other disorders of proposed relevance to IL-1 signalling (746,171 total participants).\ud \ud FINDINGS: \ud \ud For each IL1RN minor allele inherited, serum concentrations of IL-1Ra increased by 0.22 SD (95% CI 0.18-0.25; 12.5%; p = 9.3 × 10(-33)), concentrations of interleukin 6 decreased by 0.02 SD (-0.04 to -0.01; -1.7%; p = 3.5 × 10(-3)), and concentrations of C-reactive protein decreased by 0.03 SD (-0.04 to -0.02; -3.4%; p = 7.7 × 10(-14)). We noted the effects of the genetic score on these inflammation biomarkers to be directionally concordant with those of anakinra. The allele count of the genetic score had roughly log-linear, dose-dependent associations with both IL-1Ra concentration and risk of coronary heart disease. For people who carried four IL-1Ra-raising alleles, the odds ratio for coronary heart disease was 1.15 (1.08-1.22; p = 1.8 × 10(-6)) compared with people who carried no IL-1Ra-raising alleles; the per-allele odds ratio for coronary heart disease was 1.03 (1.02-1.04; p = 3.9 × 10(-10)). Per-allele odds ratios were 0.97 (0.95-0.99; p = 9.9 × 10(-4)) for rheumatoid arthritis, 0.99 (0.97-1.01; p = 0.47) for type 2 diabetes, 1.00 (0.98-1.02; p = 0.92) for ischaemic stroke, and 1.08 (1.04-1.12; p = 1.8 × 10(-5)) for abdominal aortic aneurysm. In exploratory analyses, we observed per-allele increases in concentrations of proatherogenic lipids, including LDL-cholesterol, but no clear evidence of association for blood pressure, glycaemic traits, or any of the 24 other disorders studied. Modelling suggested that the observed increase in LDL-cholesterol could account for about a third of the association observed between the genetic score and increased coronary risk.\ud \ud INTERPRETATION: \ud \ud Human genetic data suggest that long-term dual IL-1α/β inhibition could increase cardiovascular risk and, conversely, reduce the risk of development of rheumatoid arthritis. The cardiovascular risk might, in part, be mediated through an increase in proatherogenic lipid concentrations.
Published: 2015

130. Risk Factor Assessment in a Greek Cohort of Patients With Large Abdominal Aortic Aneurysms.

Author: Makrygiannis, Georgios, Mourmoura, Evanthia, Spanos, Konstantinos, Roussas, Nikolaos, Kuivaniemi, Helena, Sakalihasan, Natzi, Tsezou, Aspasia, and Giannoukas, Athanasios
Subjects: ALLELES, ABDOMINAL aortic aneurysms, AORTA, GENETIC polymorphisms, HYPERCHOLESTEREMIA, LONGITUDINAL method, RISK assessment, SMOKING, MULTIPLE regression analysis, CASE-control method, MATRIX metalloproteinases, DILATATION & curettage, GENOTYPES, DISEASE complications, GENETICS, DISEASE risk factors
Abstract: Environmental and genetic risk factors contribute to the etiology of abdominal aortic aneurysms (AAAs). Matrix metalloproteinases (MMPs) have been associated with the pathophysiology of AAAs. A prospective, nonrandomized case–control study was undertaken to investigate the risk factors for large AAAs (≥5.5 cm) among 175 male Greek AAA patients and to compare the results with a cohort of 166 male controls free from any aortic dilatation, as confirmed by ultrasonography from an existing AAA screening program in the same region. We also assessed the potential association between 2 functional single nucleotide polymorphisms in the genes MMP9 (−1561C/T; rs3918242) and MMP13 (−77A/G; rs2252070), and the presence of large AAAs. Multiple logistic regression analysis revealed AAA family history (P = .028), hypercholesterolemia (P < .001), and current smoking (P < .001) as AAA risk factors. Statistical difference was reached in genotype (P = .047) and allele (P = .037) frequencies for rs2252070, but the results did not remain significant after correction for multiple testing. No significant differences in genotype or allele frequencies for rs3918242 were detected. In summary, AAA family history, hypercholesterolemia, and current smoking were found to be risk factors for large AAAs. [ABSTRACT FROM AUTHOR]
Published: 2019
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131. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

Author: University of Helsinki, Clinicum, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Neurokirurgian yksikkö, van't Hof, Femke N. G., Ruigrok, Ynte M., Lee, Cue Hyunkyu, Ripke, Stephan, Anderson, Graig, de Andrade, Mariza, Baas, Annette F., Blankensteijn, Jan D., Bottinger, Erwin P., Bown, Matthew J., Broderick, Joseph, Bijlenga, Philippe, Carrell, David S., Crawford, Dana C., Crosslin, David R., Ebeling, Christian, Eriksson, Johan G., Fornage, Myriam, Foroud, Tatiana, von und zu Fraunberg, Mikael, Friedrich, Christoph M., Gaal, Emilia I., Gottesman, Omri, Guo, Dong-Chuan, Harrison, Seamus C., Hernesniemi, Juha, Hofman, Albert, Inoue, Ituro, Jaaskelainen, Juha E., Jones, Gregory T., Kiemeney, Lambertus A. L. M., Kivisaari, Riku, Ko, Nerissa, Koskinen, Seppo, Kubo, Michiaki, Kullo, Iftikhar J., Kuivaniemi, Helena, Kurki, Mitja I., Laakso, Aki, Lai, Dongbing, Leal, Suzanne M., Lehto, Hanna, LeMaire, Scott A., Low, Siew-Kee, Malinowski, Jennifer, McCarty, Catherine A., Milewicz, Dianna M., Mosley, Thomas H., Nakamura, Yusuke, Nakaoka, Hirofumi, Niemela, Mika, Pacheco, Jennifer, Peissig, Peggy L., Pera, Joanna, Rasmussen-Torvik, Laura, Ritchie, Marylyn D., Rivadeneira, Fernando, van Rij, Andre M., Santos-Cortez, Regie Lyn P., Saratzis, Athanasios, Slowik, Agnieszka, Takahashi, Atsushi, Tromp, Gerard, Uitterlinden, Andre G., Verma, Shefali S., Vermeulen, Sita H., Wang, Gao T., Han, Buhm, Rinkel, Gabriel J. E., de Bakker, Paul I. W., Aneurysm Consortium, Vasc Res Consortium New Zealand, University of Helsinki, Clinicum, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Neurokirurgian yksikkö, van't Hof, Femke N. G., Ruigrok, Ynte M., Lee, Cue Hyunkyu, Ripke, Stephan, Anderson, Graig, de Andrade, Mariza, Baas, Annette F., Blankensteijn, Jan D., Bottinger, Erwin P., Bown, Matthew J., Broderick, Joseph, Bijlenga, Philippe, Carrell, David S., Crawford, Dana C., Crosslin, David R., Ebeling, Christian, Eriksson, Johan G., Fornage, Myriam, Foroud, Tatiana, von und zu Fraunberg, Mikael, Friedrich, Christoph M., Gaal, Emilia I., Gottesman, Omri, Guo, Dong-Chuan, Harrison, Seamus C., Hernesniemi, Juha, Hofman, Albert, Inoue, Ituro, Jaaskelainen, Juha E., Jones, Gregory T., Kiemeney, Lambertus A. L. M., Kivisaari, Riku, Ko, Nerissa, Koskinen, Seppo, Kubo, Michiaki, Kullo, Iftikhar J., Kuivaniemi, Helena, Kurki, Mitja I., Laakso, Aki, Lai, Dongbing, Leal, Suzanne M., Lehto, Hanna, LeMaire, Scott A., Low, Siew-Kee, Malinowski, Jennifer, McCarty, Catherine A., Milewicz, Dianna M., Mosley, Thomas H., Nakamura, Yusuke, Nakaoka, Hirofumi, Niemela, Mika, Pacheco, Jennifer, Peissig, Peggy L., Pera, Joanna, Rasmussen-Torvik, Laura, Ritchie, Marylyn D., Rivadeneira, Fernando, van Rij, Andre M., Santos-Cortez, Regie Lyn P., Saratzis, Athanasios, Slowik, Agnieszka, Takahashi, Atsushi, Tromp, Gerard, Uitterlinden, Andre G., Verma, Shefali S., Vermeulen, Sita H., Wang, Gao T., Han, Buhm, Rinkel, Gabriel J. E., de Bakker, Paul I. W., Aneurysm Consortium, and Vasc Res Consortium New Zealand
Abstract: Background-Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. Methods and Results-We performed a mega-analysis of 1000 Genomes Project-imputed genome-wide association study (GWAS) data of 4 previously published aneurysm cohorts: 2 IA cohorts (in total 1516 cases, 4305 controls), 1 AAA cohort (818 cases, 3004 controls), and 1 TAA cohort (760 cases, 2212 controls), and observed associations of 4 known IA, AAA, and/or TAA risk loci (9p21, 18q11, 15q21, and 2q33) with consistent effect directions in all 4 cohorts. We calculated polygenic scores based on IA-, AAA-, and TAA-associated SNPs and tested these scores for association to case-control status in the other aneurysm cohorts; this revealed no shared polygenic effects. Similarly, linkage disequilibrium-score regression analyses did not show significant correlations between any pair of aneurysm subtypes. Last, we evaluated the evidence for 14 previously published aneurysm risk single-nucleotide polymorphisms through collaboration in extended aneurysm cohorts, with a total of 6548 cases and 16 843 controls (IA) and 4391 cases and 37 904 controls (AAA), and found nominally significant associations for IA risk locus 18q11 near RBBP8 to AAA (odds ratio [OR]= 1.11; P=4.1 x 10(-5)) and for TAA risk locus 15q21 near FBN1 to AAA (OR=1.07; P=1.1 x 10(-3)). Conclusions-Although there was no evidence for polygenic overlap between IAs, AAAs, and TAAs, we found nominally significant effects of two established risk loci for IAs and TAAs in AAAs. These two loci will require further replication.
Published: 2016

132. Shared genetic risk factors of intracranial, abdominal, and thoracic aneurysms

Author: Opleiding Neurologie, Brain, ZL Cerebrovasculaire Ziekten Medisch, Circulatory Health, Genetica Klinische Genetica, Neurologie, Hersenen-Medisch 2, CMM Groep Kaaij, Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, van 't Hof, Femke N G, Ruigrok, Ynte M, Lee, Cue Hyunkyu, Ripke, Stephan, Anderson, Graig, de Andrade, Mariza, Baas, Annette F, Blankensteijn, Jan D, Böttinger, Erwin P, Bown, Matthew J, Broderick, Joseph, Bijlenga, Philippe, Carrell, David S, Crawford, Dana C, Crosslin, David R, Ebeling, Christian, Eriksson, Johan G, Fornage, Myriam, Foroud, Tatiana, von Und Zu Fraunberg, Mikael, Friedrich, Christoph M, Gaál, Emília I, Gottesman, Omri, Guo, Dong-Chuan, Harrison, Seamus C, Hernesniemi, Juha, Hofman, Albert, Inoue, Ituro, Jääskeläinen, Juha E, Jones, Gregory T, Kiemeney, Lambertus A L M, Kivisaari, Riku, Ko, Nerissa, Koskinen, Seppo, Kubo, Michiaki, Kullo, Iftikhar J, Kuivaniemi, Helena, Kurki, Mitja I, Laakso, Aki, Lai, Dongbing, Leal, Suzanne M, Lehto, Hanna, LeMaire, Scott A, Low, Siew-Kee, Malinowski, Jennifer, McCarty, Catherine A, Milewicz, Dianna M, Mosley, Thomas H, Rinkel, Gabriël J E, de Bakker, Paul I W, Aneurysm Consortium; Vascular Research Consortium of New Zealand, Opleiding Neurologie, Brain, ZL Cerebrovasculaire Ziekten Medisch, Circulatory Health, Genetica Klinische Genetica, Neurologie, Hersenen-Medisch 2, CMM Groep Kaaij, Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, van 't Hof, Femke N G, Ruigrok, Ynte M, Lee, Cue Hyunkyu, Ripke, Stephan, Anderson, Graig, de Andrade, Mariza, Baas, Annette F, Blankensteijn, Jan D, Böttinger, Erwin P, Bown, Matthew J, Broderick, Joseph, Bijlenga, Philippe, Carrell, David S, Crawford, Dana C, Crosslin, David R, Ebeling, Christian, Eriksson, Johan G, Fornage, Myriam, Foroud, Tatiana, von Und Zu Fraunberg, Mikael, Friedrich, Christoph M, Gaál, Emília I, Gottesman, Omri, Guo, Dong-Chuan, Harrison, Seamus C, Hernesniemi, Juha, Hofman, Albert, Inoue, Ituro, Jääskeläinen, Juha E, Jones, Gregory T, Kiemeney, Lambertus A L M, Kivisaari, Riku, Ko, Nerissa, Koskinen, Seppo, Kubo, Michiaki, Kullo, Iftikhar J, Kuivaniemi, Helena, Kurki, Mitja I, Laakso, Aki, Lai, Dongbing, Leal, Suzanne M, Lehto, Hanna, LeMaire, Scott A, Low, Siew-Kee, Malinowski, Jennifer, McCarty, Catherine A, Milewicz, Dianna M, Mosley, Thomas H, Rinkel, Gabriël J E, de Bakker, Paul I W, and Aneurysm Consortium; Vascular Research Consortium of New Zealand
Published: 2016

133. SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

Author: Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E, Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathia, Lyytikäinen, Leo Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S, Arking, Dan E, Bihlmeyer, Nathan A, Böger, Carsten A, Carroll, Robert J, Chasman, Daniel I, Cornelis, Marilyn C, Dehghan, Abba, Faul, Jessica D, Feitosa, Mary F, Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iri, Huang, Jinyan, Imboden, Medea, Jackson, Anne U, Jeff, Janina, Jhun, Min A, Katz, Ronit, Kifley, Annette, Kilpeläinen, Tuomas O, Kumar, Ashish, Laakso, Markku, Li Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Mägi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L, Mook Kanamori, Dennis O, Robino, Antonietta, Ruderfer, Dougla, Salvi, Erika, Schick, Ursula M, Schulz, Christina Alexandra, Smith, Albert V, Smith, Jennifer A, Traglia, Michela, Yerges Armstrong, Laura M, Zhao, Wei, Goodarzi, Mark O, Kraja, Aldi T, Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B, Bork Jensen, Jette, Bottinger, Erwin P, Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A, Campbell, Archie, Carey, David J, Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C, Cusi, Daniele, de Boer, Ian H, de Vries, Aiko P. J, Denny, Joshua C, Devuyst, Olivier, Dreisbach, Albert W, Endlich, Karlhan, Esko, Tõnu, Franco, Oscar H, Fulop, Tibor, Gerhard, Glenn S, Glümer, Charlotte, Gottesman, Omri, Grarup, Niel, Gudnason, Vilmundur, Harris, Tamara B, Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B, Husemoen, Lise Lotte N, Jackson, Rebecca D, Jørgensen, Torben, Jørgensen, Marit E, Kähönen, Mika, Kardia, Sharon L. R, König, Wolfgang, Kooperberg, Charle, Kriebel, Jennifer, Launer, Lenore J, Lauritzen, Torsten, Lehtimäki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F, Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andre, Mitchell, Paul, Nauck, Matthia, Nürnberg, Peter, Orho Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst Hensch, Nicole M, Psaty, Bruce M, Qi, Lu, Raitakari, Olli T, Reiner, Alex P, Rettig, Rainer, Ridker, Paul M, Rivadeneira, Fernando, Rossouw, Jacques E, Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T, Uitterlinden, André G, Ulivi, Sheila, Velayutham, Dinesh, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R, Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S, Franceschini, Nora, Goessling, Wolfram, Köttgen, Anna, Chu, Audrey Y., Gambaro, Giovanni (ORCID:0000-0001-5733-2370), Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E, Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathia, Lyytikäinen, Leo Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S, Arking, Dan E, Bihlmeyer, Nathan A, Böger, Carsten A, Carroll, Robert J, Chasman, Daniel I, Cornelis, Marilyn C, Dehghan, Abba, Faul, Jessica D, Feitosa, Mary F, Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iri, Huang, Jinyan, Imboden, Medea, Jackson, Anne U, Jeff, Janina, Jhun, Min A, Katz, Ronit, Kifley, Annette, Kilpeläinen, Tuomas O, Kumar, Ashish, Laakso, Markku, Li Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Mägi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L, Mook Kanamori, Dennis O, Robino, Antonietta, Ruderfer, Dougla, Salvi, Erika, Schick, Ursula M, Schulz, Christina Alexandra, Smith, Albert V, Smith, Jennifer A, Traglia, Michela, Yerges Armstrong, Laura M, Zhao, Wei, Goodarzi, Mark O, Kraja, Aldi T, Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B, Bork Jensen, Jette, Bottinger, Erwin P, Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A, Campbell, Archie, Carey, David J, Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C, Cusi, Daniele, de Boer, Ian H, de Vries, Aiko P. J, Denny, Joshua C, Devuyst, Olivier, Dreisbach, Albert W, Endlich, Karlhan, Esko, Tõnu, Franco, Oscar H, Fulop, Tibor, Gerhard, Glenn S, Glümer, Charlotte, Gottesman, Omri, Grarup, Niel, Gudnason, Vilmundur, Harris, Tamara B, Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B, Husemoen, Lise Lotte N, Jackson, Rebecca D, Jørgensen, Torben, Jørgensen, Marit E, Kähönen, Mika, Kardia, Sharon L. R, König, Wolfgang, Kooperberg, Charle, Kriebel, Jennifer, Launer, Lenore J, Lauritzen, Torsten, Lehtimäki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F, Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andre, Mitchell, Paul, Nauck, Matthia, Nürnberg, Peter, Orho Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst Hensch, Nicole M, Psaty, Bruce M, Qi, Lu, Raitakari, Olli T, Reiner, Alex P, Rettig, Rainer, Ridker, Paul M, Rivadeneira, Fernando, Rossouw, Jacques E, Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T, Uitterlinden, André G, Ulivi, Sheila, Velayutham, Dinesh, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R, Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S, Franceschini, Nora, Goessling, Wolfram, Köttgen, Anna, Chu, Audrey Y., and Gambaro, Giovanni (ORCID:0000-0001-5733-2370)
Abstract: Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (nStage1: 111,666; nStage2: 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; PStage1<3.7×10-7), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 (P=5.4×10-8 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2-knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.
Published: 2016

134. Update on Abdominal Aortic Aneurysm Research: From Clinical to Genetic Studies

Author: Kuivaniemi, Helena, Ryer, Evan J., Elmore, James R., Hinterseher, Irene, Smelser, Diane T., and Tromp, Gerard
Subjects: enzymes and coenzymes (carbohydrates), Article Subject, cardiovascular system, cardiovascular diseases, macromolecular substances, environment and public health
Abstract: An abdominal aortic aneurysm (AAA) is a dilatation of the abdominal aorta with a diameter of at least 3.0 cm. AAAs are often asymptomatic and are discovered as incidental findings in imaging studies or when the AAA ruptures leading to a medical emergency. AAAs are more common in males than females, in individuals of European ancestry, and in those over 65 years of age. Smoking is the most important environmental risk factor. In addition, a positive family history of AAA increases the person’s risk for AAA. Interestingly, diabetes has been shown to be a protective factor for AAA in many large studies. Hallmarks of AAA pathogenesis include inflammation, vascular smooth muscle cell apoptosis, extracellular matrix degradation, and oxidative stress. Autoimmunity may also play a role in AAA development and progression. In this Outlook paper, we summarize our recent studies on AAA including clinical studies related to surgical repair of AAA and genetic risk factor and large-scale gene expression studies. We conclude with a discussion on our research projects using large data sets available through electronic medical records and biobanks.
Published: 2014
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135. MOESM1 of Gene Expression Study in Positron Emission Tomography-Positive Abdominal Aortic Aneurysms Identifies CCL18 as a Potential Biomarker for Rupture Risk

Author: Courtois, Audrey, Nusgens, Betty, Hustinx, Roland, Narnur, Gauthier, Gomez, Pierre, Kuivaniemi, Helena, Jean-Olivier Defraigne, Colige, Alain, and Natzi Sakalihasan
Abstract: Supplementary material, approximately 562 KB.
Published: 2014
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136. Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

Author: De, Rishika, primary, Verma, Shefali S., additional, Holzinger, Emily, additional, Hall, Molly, additional, Burt, Amber, additional, Carrell, David S., additional, Crosslin, David R., additional, Jarvik, Gail P., additional, Kuivaniemi, Helena, additional, Kullo, Iftikhar J., additional, Lange, Leslie A., additional, Lanktree, Matthew B., additional, Larson, Eric B., additional, North, Kari E., additional, Reiner, Alex P., additional, Tragante, Vinicius, additional, Tromp, Gerard, additional, Wilson, James G., additional, Asselbergs, Folkert W., additional, Drenos, Fotios, additional, Moore, Jason H., additional, Ritchie, Marylyn D., additional, Keating, Brendan, additional, and Gilbert-Diamond, Diane, additional
Published: 2016
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137. Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases

Author: Verma, Anurag, primary, Basile, Anna O., additional, Bradford, Yuki, additional, Kuivaniemi, Helena, additional, Tromp, Gerard, additional, Carey, David, additional, Gerhard, Glenn S., additional, Crowe, James E., additional, Ritchie, Marylyn D., additional, and Pendergrass, Sarah A., additional
Published: 2016
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138. eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

Author: Verma, Anurag, primary, Verma, Shefali S., additional, Pendergrass, Sarah A., additional, Crawford, Dana C., additional, Crosslin, David R., additional, Kuivaniemi, Helena, additional, Bush, William S., additional, Bradford, Yuki, additional, Kullo, Iftikhar, additional, Bielinski, Suzette J., additional, Li, Rongling, additional, Denny, Joshua C., additional, Peissig, Peggy, additional, Hebbring, Scott, additional, De Andrade, Mariza, additional, Ritchie, Marylyn D., additional, and Tromp, Gerard, additional
Published: 2016
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139. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist : A Mendelian randomisation analysis

Author: Freitag, Daniel, Butterworth, Adam S., Willeit, Peter, Howson, Joanna M M, Burgess, Stephen, Kaptoge, Stephen, Young, Robin, Ho, Weang Kee, Wood, Angela M., Sweeting, Michael, Spackman, Sarah, Staley, James R., Ramond, Anna, Harshfield, Eric, Nielsen, Sune F., Grande, Peer, Lange, Leslie A., Bown, Matthew J., Jones, Gregory T., Scott, Robert A., Bevan, Steve, Porcu, Eleonora, Thorleifsson, Gudmar, Zeng, Lingyao, Kessler, Thorsten, Nikpay, Majid, Do, Ron, Zhang, Weihua, Hopewell, Jemma C., Kleber, Marcus, Delgado, Graciela E., Nelson, Christopher P., Goel, Anuj, Bis, Joshua C., Dehghan, Abbas, Ligthart, Symen, Smith, Albert V., Qu, Liming, van 't Hof, Femke N G, de Bakker, Paul I W, Baas, Annette F., van Rij, Andre, Tromp, Gerard, Kuivaniemi, Helena, Ritchie, Marylyn D., Verma, Shefali S., Crawford, Dana C., Malinowski, Jennifer, de Andrade, Mariza, Kullo, Iftikhar J., Peissig, Peggy L., McCarty, Catherine A., Böttinger, Erwin P., Gottesman, Omri, Crosslin, David R., Carrell, David S., Rasmussen-Torvik, Laura J., Pacheco, Jennifer A., Huang, Jie, Timpson, Nicholas J., Kettunen, Johannes, Ala-Korpela, Mika, Mitchell, Gary F., Parsa, Afshin, Wilkinson, Ian B., Gorski, Mathias, Li, Yong, Franceschini, Nora, Keller, Margaux F., Ganesh, Santhi K., Langefeld, Carl D., Bruijn, Lucie, Brown, Matthew A., Evans, David M., Baltic, Svetlana, Ferreira, Manuel A., Baurecht, Hansjörg, Weidinger, Stephan, Franke, Andre, Lubitz, Steven A., Müller-Nurasyid, Martina, Felix, Janine F., Smith, Nicholas L., Sudman, Marc, Thompson, Susan D., Zeggini, Eleftheria, Panoutsopoulou, Kalliope, Nalls, Mike A., Singleton, Andrew, Polychronakos, Constantin, Bradfield, Jonathan P., Hakonarson, Hakon, Easton, Douglas F., Thompson, Deborah, Tomlinson, Ian P., Dunlop, Malcolm, Hemminki, Kari, Morgan, Gareth, Eisen, Timothy, Goldschmidt, Hartmut, Allan, James M., Henrion, Marc, Whiffin, Nicola, Wang, Yufei, Chubb, Daniel, Iles, Mark M., Bishop, D. Timothy, Law, Matthew H., Hayward, Nicholas K., Luo, Yang, Nejentsev, Sergey, Barbalic, Maja, Crossman, David, Sanna, Serena, Soranzo, Nicole, Markus, Hugh S., Wareham, Nicholas J., Rader, Daniel J., Reilly, Muredach, Assimes, Themistocles, Harris, Tamara B., Hofman, Albert, Franco, Oscar H., Gudnason, Vilmundur, Tracy, Russell, Psaty, Bruce M., Farrall, Martin, Watkins, Hugh, Hall, Alistair S., Samani, Nilesh J., März, Winfried, Clarke, Robert, Collins, Rory, Kooner, Jaspal S., Chambers, John C., Kathiresan, Sekar, McPherson, Ruth, Erdmann, Jeanette, Kastrati, Adnan, Schunkert, Heribert, Stefánsson, Kári, Thorsteinsdottir, Unnur, Walston, Jeremy D., Tybjærg-Hansen, Anne, Alam, Dewan S., Al Shafi Majumder, Abdullah, Angelantonio, Emanuele Di, Chowdhury, Rajiv, Nordestgaard, Børge G., Saleheen, Danish, Thompson, Simon G., Danesh, John, Houlston, Richard S., Freitag, Daniel, Butterworth, Adam S., Willeit, Peter, Howson, Joanna M M, Burgess, Stephen, Kaptoge, Stephen, Young, Robin, Ho, Weang Kee, Wood, Angela M., Sweeting, Michael, Spackman, Sarah, Staley, James R., Ramond, Anna, Harshfield, Eric, Nielsen, Sune F., Grande, Peer, Lange, Leslie A., Bown, Matthew J., Jones, Gregory T., Scott, Robert A., Bevan, Steve, Porcu, Eleonora, Thorleifsson, Gudmar, Zeng, Lingyao, Kessler, Thorsten, Nikpay, Majid, Do, Ron, Zhang, Weihua, Hopewell, Jemma C., Kleber, Marcus, Delgado, Graciela E., Nelson, Christopher P., Goel, Anuj, Bis, Joshua C., Dehghan, Abbas, Ligthart, Symen, Smith, Albert V., Qu, Liming, van 't Hof, Femke N G, de Bakker, Paul I W, Baas, Annette F., van Rij, Andre, Tromp, Gerard, Kuivaniemi, Helena, Ritchie, Marylyn D., Verma, Shefali S., Crawford, Dana C., Malinowski, Jennifer, de Andrade, Mariza, Kullo, Iftikhar J., Peissig, Peggy L., McCarty, Catherine A., Böttinger, Erwin P., Gottesman, Omri, Crosslin, David R., Carrell, David S., Rasmussen-Torvik, Laura J., Pacheco, Jennifer A., Huang, Jie, Timpson, Nicholas J., Kettunen, Johannes, Ala-Korpela, Mika, Mitchell, Gary F., Parsa, Afshin, Wilkinson, Ian B., Gorski, Mathias, Li, Yong, Franceschini, Nora, Keller, Margaux F., Ganesh, Santhi K., Langefeld, Carl D., Bruijn, Lucie, Brown, Matthew A., Evans, David M., Baltic, Svetlana, Ferreira, Manuel A., Baurecht, Hansjörg, Weidinger, Stephan, Franke, Andre, Lubitz, Steven A., Müller-Nurasyid, Martina, Felix, Janine F., Smith, Nicholas L., Sudman, Marc, Thompson, Susan D., Zeggini, Eleftheria, Panoutsopoulou, Kalliope, Nalls, Mike A., Singleton, Andrew, Polychronakos, Constantin, Bradfield, Jonathan P., Hakonarson, Hakon, Easton, Douglas F., Thompson, Deborah, Tomlinson, Ian P., Dunlop, Malcolm, Hemminki, Kari, Morgan, Gareth, Eisen, Timothy, Goldschmidt, Hartmut, Allan, James M., Henrion, Marc, Whiffin, Nicola, Wang, Yufei, Chubb, Daniel, Iles, Mark M., Bishop, D. Timothy, Law, Matthew H., Hayward, Nicholas K., Luo, Yang, Nejentsev, Sergey, Barbalic, Maja, Crossman, David, Sanna, Serena, Soranzo, Nicole, Markus, Hugh S., Wareham, Nicholas J., Rader, Daniel J., Reilly, Muredach, Assimes, Themistocles, Harris, Tamara B., Hofman, Albert, Franco, Oscar H., Gudnason, Vilmundur, Tracy, Russell, Psaty, Bruce M., Farrall, Martin, Watkins, Hugh, Hall, Alistair S., Samani, Nilesh J., März, Winfried, Clarke, Robert, Collins, Rory, Kooner, Jaspal S., Chambers, John C., Kathiresan, Sekar, McPherson, Ruth, Erdmann, Jeanette, Kastrati, Adnan, Schunkert, Heribert, Stefánsson, Kári, Thorsteinsdottir, Unnur, Walston, Jeremy D., Tybjærg-Hansen, Anne, Alam, Dewan S., Al Shafi Majumder, Abdullah, Angelantonio, Emanuele Di, Chowdhury, Rajiv, Nordestgaard, Børge G., Saleheen, Danish, Thompson, Simon G., Danesh, John, and Houlston, Richard S.
Published: 2015

140. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: A Mendelian randomisation analysis

Author: Infection & Immunity, JC onderzoeksprogramma Methodologie, Circulatory Health, Cancer, Epi Methoden Team 1, Genetica Klinische Genetica, Freitag, Daniel, Butterworth, Adam S., Willeit, Peter, Howson, Joanna M M, Burgess, Stephen, Kaptoge, Stephen, Young, Robin, Ho, Weang Kee, Wood, Angela M., Sweeting, Michael, Spackman, Sarah, Staley, James R., Ramond, Anna, Harshfield, Eric, Nielsen, Sune F., Grande, Peer, Lange, Leslie A., Bown, Matthew J., Jones, Gregory T., Scott, Robert A., Bevan, Steve, Porcu, Eleonora, Thorleifsson, Gudmar, Zeng, Lingyao, Kessler, Thorsten, Nikpay, Majid, Do, Ron, Zhang, Weihua, Hopewell, Jemma C., Kleber, Marcus, Delgado, Graciela E., Nelson, Christopher P., Goel, Anuj, Bis, Joshua C., Dehghan, Abbas, Ligthart, Symen, Smith, Albert V., Qu, Liming, van 't Hof, Femke N G, de Bakker, Paul I W, Baas, Annette F., van Rij, Andre, Tromp, Gerard, Kuivaniemi, Helena, Ritchie, Marylyn D., Verma, Shefali S., Crawford, Dana C., Malinowski, Jennifer, de Andrade, Mariza, Kullo, Iftikhar J., Peissig, Peggy L., McCarty, Catherine A., Böttinger, Erwin P., Gottesman, Omri, Crosslin, David R., Carrell, David S., Rasmussen-Torvik, Laura J., Pacheco, Jennifer A., Huang, Jie, Timpson, Nicholas J., Kettunen, Johannes, Ala-Korpela, Mika, Mitchell, Gary F., Parsa, Afshin, Wilkinson, Ian B., Gorski, Mathias, Li, Yong, Franceschini, Nora, Keller, Margaux F., Ganesh, Santhi K., Langefeld, Carl D., Bruijn, Lucie, Brown, Matthew A., Evans, David M., Baltic, Svetlana, Ferreira, Manuel A., Baurecht, Hansjörg, Weidinger, Stephan, Franke, Andre, Lubitz, Steven A., Müller-Nurasyid, Martina, Felix, Janine F., Smith, Nicholas L., Sudman, Marc, Thompson, Susan D., Zeggini, Eleftheria, Panoutsopoulou, Kalliope, Nalls, Mike A., Singleton, Andrew, Polychronakos, Constantin, Bradfield, Jonathan P., Hakonarson, Hakon, Easton, Douglas F., Thompson, Deborah, Tomlinson, Ian P., Dunlop, Malcolm, Hemminki, Kari, Morgan, Gareth, Eisen, Timothy, Goldschmidt, Hartmut, Allan, James M., Henrion, Marc, Whiffin, Nicola, Wang, Yufei, Chubb, Daniel, Iles, Mark M., Bishop, D. Timothy, Law, Matthew H., Hayward, Nicholas K., Luo, Yang, Nejentsev, Sergey, Barbalic, Maja, Crossman, David, Sanna, Serena, Soranzo, Nicole, Markus, Hugh S., Wareham, Nicholas J., Rader, Daniel J., Reilly, Muredach, Assimes, Themistocles, Harris, Tamara B., Hofman, Albert, Franco, Oscar H., Gudnason, Vilmundur, Tracy, Russell, Psaty, Bruce M., Farrall, Martin, Watkins, Hugh, Hall, Alistair S., Samani, Nilesh J., März, Winfried, Clarke, Robert, Collins, Rory, Kooner, Jaspal S., Chambers, John C., Kathiresan, Sekar, McPherson, Ruth, Erdmann, Jeanette, Kastrati, Adnan, Schunkert, Heribert, Stefánsson, Kári, Thorsteinsdottir, Unnur, Walston, Jeremy D., Tybjærg-Hansen, Anne, Alam, Dewan S., Al Shafi Majumder, Abdullah, Angelantonio, Emanuele Di, Chowdhury, Rajiv, Nordestgaard, Børge G., Saleheen, Danish, Thompson, Simon G., Danesh, John, Houlston, Richard S., Infection & Immunity, JC onderzoeksprogramma Methodologie, Circulatory Health, Cancer, Epi Methoden Team 1, Genetica Klinische Genetica, Freitag, Daniel, Butterworth, Adam S., Willeit, Peter, Howson, Joanna M M, Burgess, Stephen, Kaptoge, Stephen, Young, Robin, Ho, Weang Kee, Wood, Angela M., Sweeting, Michael, Spackman, Sarah, Staley, James R., Ramond, Anna, Harshfield, Eric, Nielsen, Sune F., Grande, Peer, Lange, Leslie A., Bown, Matthew J., Jones, Gregory T., Scott, Robert A., Bevan, Steve, Porcu, Eleonora, Thorleifsson, Gudmar, Zeng, Lingyao, Kessler, Thorsten, Nikpay, Majid, Do, Ron, Zhang, Weihua, Hopewell, Jemma C., Kleber, Marcus, Delgado, Graciela E., Nelson, Christopher P., Goel, Anuj, Bis, Joshua C., Dehghan, Abbas, Ligthart, Symen, Smith, Albert V., Qu, Liming, van 't Hof, Femke N G, de Bakker, Paul I W, Baas, Annette F., van Rij, Andre, Tromp, Gerard, Kuivaniemi, Helena, Ritchie, Marylyn D., Verma, Shefali S., Crawford, Dana C., Malinowski, Jennifer, de Andrade, Mariza, Kullo, Iftikhar J., Peissig, Peggy L., McCarty, Catherine A., Böttinger, Erwin P., Gottesman, Omri, Crosslin, David R., Carrell, David S., Rasmussen-Torvik, Laura J., Pacheco, Jennifer A., Huang, Jie, Timpson, Nicholas J., Kettunen, Johannes, Ala-Korpela, Mika, Mitchell, Gary F., Parsa, Afshin, Wilkinson, Ian B., Gorski, Mathias, Li, Yong, Franceschini, Nora, Keller, Margaux F., Ganesh, Santhi K., Langefeld, Carl D., Bruijn, Lucie, Brown, Matthew A., Evans, David M., Baltic, Svetlana, Ferreira, Manuel A., Baurecht, Hansjörg, Weidinger, Stephan, Franke, Andre, Lubitz, Steven A., Müller-Nurasyid, Martina, Felix, Janine F., Smith, Nicholas L., Sudman, Marc, Thompson, Susan D., Zeggini, Eleftheria, Panoutsopoulou, Kalliope, Nalls, Mike A., Singleton, Andrew, Polychronakos, Constantin, Bradfield, Jonathan P., Hakonarson, Hakon, Easton, Douglas F., Thompson, Deborah, Tomlinson, Ian P., Dunlop, Malcolm, Hemminki, Kari, Morgan, Gareth, Eisen, Timothy, Goldschmidt, Hartmut, Allan, James M., Henrion, Marc, Whiffin, Nicola, Wang, Yufei, Chubb, Daniel, Iles, Mark M., Bishop, D. Timothy, Law, Matthew H., Hayward, Nicholas K., Luo, Yang, Nejentsev, Sergey, Barbalic, Maja, Crossman, David, Sanna, Serena, Soranzo, Nicole, Markus, Hugh S., Wareham, Nicholas J., Rader, Daniel J., Reilly, Muredach, Assimes, Themistocles, Harris, Tamara B., Hofman, Albert, Franco, Oscar H., Gudnason, Vilmundur, Tracy, Russell, Psaty, Bruce M., Farrall, Martin, Watkins, Hugh, Hall, Alistair S., Samani, Nilesh J., März, Winfried, Clarke, Robert, Collins, Rory, Kooner, Jaspal S., Chambers, John C., Kathiresan, Sekar, McPherson, Ruth, Erdmann, Jeanette, Kastrati, Adnan, Schunkert, Heribert, Stefánsson, Kári, Thorsteinsdottir, Unnur, Walston, Jeremy D., Tybjærg-Hansen, Anne, Alam, Dewan S., Al Shafi Majumder, Abdullah, Angelantonio, Emanuele Di, Chowdhury, Rajiv, Nordestgaard, Børge G., Saleheen, Danish, Thompson, Simon G., Danesh, John, and Houlston, Richard S.
Published: 2015

141. A review of genome-wide transcriptomics studies in Parkinson's disease.

Author: Borrageiro, Genevie, Haylett, William, Seedat, Soraya, Kuivaniemi, Helena, and Bardien, Soraya
Subjects: PARKINSON'S disease treatment, CEREBROSPINAL fluid examination, MITOCHONDRIAL physiology, OXIDATIVE stress, NEURAL transmission, GENE expression
Abstract: Parkinson's disease ( PD) is a progressive and incurable neurodegenerative disorder. Although numerous genetic and environmental factors have been linked to the aetiology of PD the underlying pathobiology remains poorly understood, hampering the development of improved therapies. Transcriptomics has the potential to reveal significant insights into disease processes. In this review, we focused on published transcriptomics studies on PD with the aim of summarizing studies and identifying common biological pathways. A total of 96 articles were identified as follows: 12 meta-analyses, 21 re-analyses of existing data and 63 original studies. Of the 63 original studies, 33 were performed on brain tissue, 26 on blood, three on cerebrospinal fluid and one on skin. In the brain studies, altered pathways identified included those involved in dopamine metabolism, mitochondrial function, oxidative stress, protein degradation, neuroinflammation, vesicular transport and synaptic transmission. Studies on blood samples revealed alterations in pathways involved in immune function, inflammation, RNA processing, protein chaperones, mitochondrial function and programmed cell death. Limitations of these studies include small sample sizes (generally <40 cases/40 controls) and the application of widely varying statistical analysis and parameters. Only eight studies used the RNA-Seq technique. This review highlights the need for harmonization of transcriptomic approaches and the statistical analyses, and for the data to be deposited into publicly available databases in a standardized format for meta-analyses. Notably, the concordance of several pathways such as mitochondrial function, protein degradation and inflammation, identified in both blood and brain tissues, suggests that the disease process is systemic and not restricted to neurological tissues. [ABSTRACT FROM AUTHOR]
Published: 2018
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142. Genetik und Abdominale Aortenaneurysmen

Author: Hinterseher, Irene, Gäbel, Gabor, Saeger, Hans-Detlev, Tromp, Gerard, and Kuivaniemi, Helena
Subjects: ddc: 610, 610 Medical sciences, Medicine
Abstract: Einleitung: Das abdominale Aortenaneurysma (AAA) ist eine multifaktorielle Erkrankung mit starker genetischer Komponente. Die familiäre Häufung von AAA wurde erstmalig 1977 beschrieben. Weitere Studien folgten, die in Stammbaumanalysen ein achtfach erhöhtes Risiko für ein AAA eines[for full text, please go to the a.m. URL], 129. Kongress der Deutschen Gesellschaft für Chirurgie
Published: 2012
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143. In response: abdominal aortic aneurysms: do not underestimate the role of diabetes

Author: Kuivaniemi, Helena, primary, Ryer, Evan J., additional, Elmore, James R., additional, and Tromp, Gerard, additional
Published: 2015
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144. Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

Author: Gallego, Carlos J., primary, Burt, Amber, additional, Sundaresan, Agnes S., additional, Ye, Zi, additional, Shaw, Christopher, additional, Crosslin, David R., additional, Crane, Paul K., additional, Fullerton, S. Malia, additional, Hansen, Kris, additional, Carrell, David, additional, Kuivaniemi, Helena, additional, Derr, Kimberly, additional, de Andrade, Mariza, additional, McCarty, Catherine A., additional, Kitchner, Terrie E., additional, Ragon, Brittany K., additional, Stallings, Sarah C., additional, Papa, Gabriella, additional, Bochenek, Joseph, additional, Smith, Maureen E., additional, Aufox, Sharon A., additional, Pacheco, Jennifer A., additional, Patel, Vaibhav, additional, Friesema, Elisha M., additional, Erwin, Angelika Ludtke, additional, Gottesman, Omri, additional, Gerhard, Glenn S., additional, Ritchie, Marylyn, additional, Motulsky, Arno G., additional, Kullo, Iftikhar J., additional, Larson, Eric B., additional, Tromp, Gerard, additional, Brilliant, Murray H., additional, Bottinger, Erwin, additional, Denny, Joshua C., additional, Roden, Dan M., additional, Williams, Marc S., additional, and Jarvik, Gail P., additional
Published: 2015
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145. Understanding the pathogenesis of abdominal aortic aneurysms

Author: Kuivaniemi, Helena, primary, Ryer, Evan J, additional, Elmore, James R, additional, and Tromp, Gerard, additional
Published: 2015
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146. Genetische Ursachen von Aortenaneurysmen (Stand der Forschung) und Erfahrungsbericht aus der Grundlagenforschung

Author: Hinterseher, Irene, Gäbel, Gabor, Bergert, Hendrik, Saeger, Hans-Detlev, Tromp, Gerard, and Kuivaniemi, Helena
Subjects: ddc: 610, 610 Medical sciences, Medicine
Abstract: Einleitung: In der Arbeitsgruppe von Prof. H. Kuivaniemi wurden in genomweiten Linkage-Studien an Patienten mit abdominalem Aortenaneurysma (AAA) mittlerweile die Kandidatenregionen für ein AAA auf den Chromosomen 19q13 und 4q31 eingegrenzt. Im Weis Center for Research am Geisinger Health Institute[for full text, please go to the a.m. URL], 127. Kongress der Deutschen Gesellschaft für Chirurgie
Published: 2010

147. Immunohistochemical Analysis of the Natural Killer Cell Cytotoxicity Pathway in Human Abdominal Aortic Aneurysms

Author: Hinterseher, Irene, primary, Schworer, Charles, additional, Lillvis, John, additional, Stahl, Elizabeth, additional, Erdman, Robert, additional, Gatalica, Zoran, additional, Tromp, Gerard, additional, and Kuivaniemi, Helena, additional
Published: 2015
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148. Transcriptional (ChIP-Chip) Analysis of ELF1, ETS2, RUNX1 and STAT5 in Human Abdominal Aortic Aneurysm

Author: Pahl, Matthew, primary, Erdman, Robert, additional, Kuivaniemi, Helena, additional, Lillvis, John, additional, Elmore, James, additional, and Tromp, Gerard, additional
Published: 2015
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149. The Potential Role of DNA Methylation in Abdominal Aortic Aneurysms

Author: Ryer, Evan, primary, Ronning, Kaitryn, additional, Erdman, Robert, additional, Schworer, Charles, additional, Elmore, James, additional, Peeler, Thomas, additional, Nevius, Christopher, additional, Lillvis, John, additional, Garvin, Robert, additional, Franklin, David, additional, Kuivaniemi, Helena, additional, and Tromp, Gerard, additional
Published: 2015
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150. Biology‐Driven Gene‐Gene Interaction Analysis of Age‐Related Cataract in the eMERGE Network

Author: Hall, Molly A., primary, Verma, Shefali S., additional, Wallace, John, additional, Lucas, Anastasia, additional, Berg, Richard L., additional, Connolly, John, additional, Crawford, Dana C., additional, Crosslin, David R., additional, Andrade, Mariza, additional, Doheny, Kimberly F., additional, Haines, Jonathan L., additional, Harley, John B., additional, Jarvik, Gail P., additional, Kitchner, Terrie, additional, Kuivaniemi, Helena, additional, Larson, Eric B., additional, Carrell, David S., additional, Tromp, Gerard, additional, Vrabec, Tamara R., additional, Pendergrass, Sarah A., additional, McCarty, Catherine A., additional, and Ritchie, Marylyn D., additional
Published: 2015
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