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1. 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, Tom R, 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, N 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 NG, 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, Gonçalo 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, and Rosand, Jonathan
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Clinical Research, Cancer, Prevention, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Aged, 80 and over, Cardiovascular Diseases, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Germ-Line Mutation, Humans, Male, Mendelian Randomization Analysis, Middle Aged, Neoplasms, Polymorphism, Single Nucleotide, Risk Assessment, Telomere, Telomere Homeostasis, Telomeres Mendelian Randomization Collaboration, Public Health and Health Services, Oncology and carcinogenesis
Abstract: ImportanceThe 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.ObjectiveTo 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 sourcesGenomewide association studies (GWAS) published up to January 15, 2015.Study selectionGWAS 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 synthesisSummary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population.Main outcomes and measuresOdds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation.ResultsSummary 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 relevanceIt is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.
Published: 2017

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

Author: Telomeres Mendelian Randomization Collaboration, 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, Tom R, 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, N 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 NG, 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, Gonçalo 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, and Woo, Daniel
Subjects: Telomeres Mendelian Randomization Collaboration, Telomere, Humans, Neoplasms, Cardiovascular Diseases, Genetic Predisposition to Disease, Risk Assessment, Germ-Line Mutation, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Mendelian Randomization Analysis, Telomere Homeostasis, Polymorphism, Single Nucleotide, and over, Prevention, Clinical Research, Cancer, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Oncology and Carcinogenesis, Public Health and Health Services
Abstract: ImportanceThe 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.ObjectiveTo 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 sourcesGenomewide association studies (GWAS) published up to January 15, 2015.Study selectionGWAS 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 synthesisSummary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population.Main outcomes and measuresOdds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation.ResultsSummary 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 relevanceIt is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.
Published: 2017

3. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Author: Pattaro, Cristian, Teumer, Alexander, Gorski, Mathias, Chu, Audrey Y, Li, Man, Mijatovic, Vladan, Garnaas, Maija, Tin, Adrienne, Sorice, Rossella, Li, Yong, Taliun, Daniel, Olden, Matthias, Foster, Meredith, Yang, Qiong, Chen, Ming-Huei, Pers, Tune H, Johnson, Andrew D, Ko, Yi-An, Fuchsberger, Christian, Tayo, Bamidele, Nalls, Michael, Feitosa, Mary F, Isaacs, Aaron, Dehghan, Abbas, d'Adamo, Pio, Adeyemo, Adebowale, Dieffenbach, Aida Karina, Zonderman, Alan B, Nolte, Ilja M, van der Most, Peter J, Wright, Alan F, Shuldiner, Alan R, Morrison, Alanna C, Hofman, Albert, Smith, Albert V, Dreisbach, Albert W, Franke, Andre, Uitterlinden, Andre G, Metspalu, Andres, Tonjes, Anke, Lupo, Antonio, Robino, Antonietta, Johansson, Åsa, Demirkan, Ayse, Kollerits, Barbara, Freedman, Barry I, Ponte, Belen, Oostra, Ben A, Paulweber, Bernhard, Krämer, Bernhard K, Mitchell, Braxton D, Buckley, Brendan M, Peralta, Carmen A, Hayward, Caroline, Helmer, Catherine, Rotimi, Charles N, Shaffer, Christian M, Müller, Christian, Sala, Cinzia, van Duijn, Cornelia M, Saint-Pierre, Aude, Ackermann, Daniel, Shriner, Daniel, Ruggiero, Daniela, Toniolo, Daniela, Lu, Yingchang, Cusi, Daniele, Czamara, Darina, Ellinghaus, David, Siscovick, David S, Ruderfer, Douglas, Gieger, Christian, Grallert, Harald, Rochtchina, Elena, Atkinson, Elizabeth J, Holliday, Elizabeth G, Boerwinkle, Eric, Salvi, Erika, Bottinger, Erwin P, Murgia, Federico, Rivadeneira, Fernando, Ernst, Florian, Kronenberg, Florian, Hu, Frank B, Navis, Gerjan J, Curhan, Gary C, Ehret, George B, Homuth, Georg, Coassin, Stefan, Thun, Gian-Andri, Pistis, Giorgio, Gambaro, Giovanni, Malerba, Giovanni, Montgomery, Grant W, Eiriksdottir, Gudny, Jacobs, Gunnar, Li, Guo, Wichmann, H-Erich, Campbell, Harry, and Schmidt, Helena
Subjects: ICBP Consortium, AGEN Consortium, CARDIOGRAM, CHARGe-Heart Failure Group, ECHOGen Consortium, Humans, Genetic Predisposition to Disease, Gene Expression Regulation, Genotype, Renal Insufficiency, Chronic, Genome-Wide Association Study, Renal Insufficiency, Chronic
Abstract: Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
Published: 2016

4. 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

Author: Gorski, Mathias, van der Most, Peter J., Teumer, Alexander, Chu, Audrey Y., Li, Man, Mijatovic, Vladan, Nolte, Ilja M., Cocca, Massimiliano, Taliun, Daniel, Gomez, Felicia, Li, Yong, Tayo, Bamidele, Tin, Adrienne, Feitosa, Mary F., Aspelund, Thor, Attia, John, Biffar, Reiner, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid, Bottinger, Erwin P., Chen, Ming-Huei, Chouraki, Vincent, Ciullo, Marina, Coresh, Josef, Cornelis, Marilyn C., Curhan, Gary C., d’Adamo, Adamo Pio, Dehghan, Abbas, Dengler, Laura, Ding, Jingzhong, Eiriksdottir, Gudny, Endlich, Karlhans, Enroth, Stefan, Esko, Tõnu, Franco, Oscar H., Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hancock, Stephen J., Harris, Tamara B., Helmer, Catherine, Höllerer, Simon, Hofer, Edith, Hofman, Albert, Holliday, Elizabeth G., Homuth, Georg, Hu, Frank B., Huth, Cornelia, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Imboden, Medea, Johansson, Åsa, Kähönen, Mika, König, Wolfgang, Kramer, Holly, Krämer, Bernhard K., Kumar, Ashish, Kutalik, Zoltan, Lambert, Jean-Charles, Launer, Lenore J., Lehtimäki, Terho, de Borst, Martin H., Navis, Gerjan, Swertz, Morris, Liu, Yongmei, Lohman, Kurt, Loos, Ruth J. F., Lu, Yingchang, Lyytikäinen, Leo-Pekka, McEvoy, Mark A., Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Metzger, Marie, Mihailov, Evelin, Mitchell, Paul, Nauck, Matthias, Oldehinkel, Albertine J., Olden, Matthias, WJH Penninx, Brenda, Pistis, Giorgio, Pramstaller, Peter P., Probst-Hensch, Nicole, Raitakari, Olli T., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Robino, Antonietta, Rosas, Sylvia E., Ruderfer, Douglas, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J., Sedaghat, Sanaz, Smith, Albert V., Sorice, Rossella, Stengel, Benedicte, Stracke, Sylvia, Strauch, Konstantin, Toniolo, Daniela, Uitterlinden, Andre G., Ulivi, Sheila, Viikari, Jorma S., Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Vuckovic, Dragana, Waldenberger, Melanie, Jin Wang, Jie, Yang, Qiong, Chasman, Daniel I., Tromp, Gerard, Snieder, Harold, Heid, Iris M., Fox, Caroline S., Köttgen, Anna, Pattaro, Cristian, Böger, Carsten A., and Fuchsberger, Christian
Published: 2017
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5. Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

Author: Gorski, Mathias, Most, Peter J van der, Teumer, Alexander, Chu, Audrey Y, Li, Man, Mijatovic, Vladan, Nolte, Ilja M, Cocca, Massimiliano, Taliun, Daniel, Gomez, Felicia, Li, Yong, Tayo, Bamidele, Tin, Adrienne, Feitosa, Mary F, Aspelund, Thor, Attia, John, Biffar, Reiner, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid, Bottinger, Erwin P, Chen, Ming-Huei, Chouraki, Vincent, Ciullo, Marina, Coresh, Josef, Cornelis, Marilyn C, Curhan, Gary C, Adamo, Adamo Pio d', Dehghan, Abbas, Dengler, Laura, Ding, Jingzhong, Eiriksdottir, Gudny, Endlich, Karlhans, Enroth, Stefan, Esko, Tõnu, Franco, Oscar H, Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hancock, Stephen J, Harris, Tamara B, Helmer, Catherine, Höllerer, Simon, Hofer, Edith, Hofman, Albert, Holliday, Elizabeth G, Homuth, Georg, Hu, Frank B, Huth, Cornelia, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Imboden, Medea, Johansson, Åsa, Kähönen, Mika, König, Wolfgang, Kramer, Holly, Krämer, Bernhard K, Kumar, Ashish, Kutalik, Zoltan, Lambert, Jean-Charles, Launer, Lenore J, Lehtimäki, Terho, de Borst, Martin H, Navis, Gerjan, Swertz, Morris, Liu, Yongmei, Lohman, Kurt, Loos, Ruth J F, Lu, Yingchang, Lyytikäinen, Leo-Pekka, McEvoy, Mark A, Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Metzger, Marie, Mihailov, Evelin, Mitchell, Paul, Nauck, Matthias, Oldehinkel, Albertine J, Olden, Matthias, Wjh Penninx, Brenda, Pistis, Giorgio, Pramstaller, Peter P, Probst-Hensch, Nicole, Raitakari, Olli T, Rettig, Rainer, Ridker, Paul M, Rivadeneira, Fernando, Robino, Antonietta, Rosas, Sylvia E, Ruderfer, Douglas, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J, Sedaghat, Sanaz, Smith, Albert V, Sorice, Rossella, Stengel, Benedicte, Stracke, Sylvia, Strauch, Konstantin, Toniolo, Daniela, Uitterlinden, Andre G, Ulivi, Sheila, Viikari, Jorma S, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Vuckovic, Dragana, Waldenberger, Melanie, Wang, Jie Jin, Yang, Qiong, Chasman, Daniel I, Tromp, Gerard, Snieder, Harold, Heid, Iris M, Fox, Caroline S, Köttgen, Anna, Pattaro, Cristian, Böger, Carsten A, Fuchsberger, Christian, Gorski, Mathia, Most, Peter J van der, Teumer, Alexander, Chu, Audrey Y, Man, Li, Mijatovic, Vladan, Nolte, Ilja M, Cocca, Massimiliano, Taliun, Daniel, Gomez, Felicia, Li, Yong, Tayo, Bamidele, Tin, Adrienne, Feitosa, Mary F, Aspelund, Thor, Attia, John, Biffar, Reiner, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid, Bottinger, Erwin P, Chen, Ming-Huei, Chouraki, Vincent, Ciullo, Marina, Coresh, Josef, Cornelis, Marilyn C, Curhan, Gary C, Adamo, Adamo Pio d', Dehghan, Abba, Dengler, Laura, Ding, Jingzhong, Eiriksdottir, Gudny, Endlich, Karlhan, Enroth, Stefan, Esko, Tõnu, Franco, Oscar H, Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hancock, Stephen J, Harris, Tamara B, Helmer, Catherine, Höllerer, Simon, Hofer, Edith, Hofman, Albert, Holliday, Elizabeth G, Homuth, Georg, Hu, Frank B, Huth, Cornelia, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Imboden, Medea, Johansson, Åsa, Kähönen, Mika, König, Wolfgang, Kramer, Holly, Krämer, Bernhard K, Kumar, Ashish, Kutalik, Zoltan, Lambert, Jean-Charle, Launer, Lenore J, Lehtimäki, Terho, de Borst, Martin H, Navis, Gerjan, Swertz, Morri, Liu, Yongmei, Lohman, Kurt, Loos, Ruth J F, Lu, Yingchang, Lyytikäinen, Leo-Pekka, Mcevoy, Mark A, Meisinger, Christa, Meitinger, Thoma, Metspalu, Andre, Metzger, Marie, Mihailov, Evelin, Mitchell, Paul, Nauck, Matthia, Oldehinkel, Albertine J, Olden, Matthia, Wjh Penninx, Brenda, Pistis, Giorgio, Pramstaller, Peter P, Probst-Hensch, Nicole, Raitakari, Olli T, Rettig, Rainer, Ridker, Paul M, Rivadeneira, Fernando, Robino, Antonietta, Rosas, Sylvia E, Ruderfer, Dougla, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J, Sedaghat, Sanaz, Smith, Albert V, Sorice, Rossella, Stengel, Benedicte, Stracke, Sylvia, Strauch, Konstantin, Toniolo, Daniela, Uitterlinden, Andre G, Ulivi, Sheila, Viikari, Jorma S, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Vuckovic, Dragana, Waldenberger, Melanie, Wang, Jie Jin, Yang, Qiong, Chasman, Daniel I, Tromp, Gerard, Snieder, Harold, Heid, Iris M, Fox, Caroline S, Köttgen, Anna, Pattaro, Cristian, Böger, Carsten A, and Fuchsberger, Christian
Subjects: Gene Frequency, Genotyping Techniques, Genetic Loci, Genome, Human, Computational Biology, Humans, Kidney, Corrigendum, Corrigenda, Polymorphism, Single Nucleotide, Genome-Wide Association Study
Abstract: HapMap imputed genome-wide association studies (GWAS) have revealed50 loci at which common variants with minor allele frequency5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value 5 × 10
Published: 2017

6. Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles

Author: Gregson, John M, Freitag, Daniel F, Surendran, Praveen, Stitziel, Nathan O, Chowdhury, Rajiv, Burgess, Stephen, Kaptoge, Stephen, Gao, Pei, Staley, James R, Willeit, Peter, Nielsen, Sune F, Caslake, Muriel, Trompet, Stella, Polfus, Linda M, Kuulasmaa, Kari, Kontto, Jukka, Perola, Markus, Blankenberg, Stefan, Veronesi, Giovanni, Gianfagna, Francesco, Männistö, Satu, Kimura, Akinori, Lin, Honghuang, Reilly, Dermot F, Gorski, Mathias, Mijatovic, Vladan, Munroe, Patricia B, Ehret, Georg B, Thompson, Alex, Uria-Nickelsen, Maria, Malarstig, Anders, Dehghan, Abbas, Vogt, Thomas F, Sasaoka, Taishi, Takeuchi, Fumihiko, Kato, Norihiro, Yamada, Yoshiji, Kee, Frank, Müller-Nurasyid, Martina, Ferrières, Jean, Arveiler, Dominique, Amouyel, Philippe, Salomaa, Veikko, Boerwinkle, Eric, Thompson, Simon G, Ford, Ian, Wouter Jukema, J, Sattar, Naveed, Packard, Chris J, Shafi Majumder, Abdulla al, Alam, Dewan S, Deloukas, Panos, Schunkert, Heribert, Samani, Nilesh J, Kathiresan, Sekar, Nordestgaard, Børge G, Saleheen, Danish, Howson, Joanna MM, Di Angelantonio, Emanuele, Butterworth, Adam S, and Danesh, John
Published: 2017

7. 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

8. 1000 Genomes-based metaanalysis identifies 10 novel loci for kidney function

Author: Gorski, Mathias, Van Der Most, Peter J., Teumer, Alexander, Chu, Audrey Y., Li, Man, Mijatovic, Vladan, Nolte, Ilja M., Cocca, Massimiliano, Taliun, Daniel, Gomez, Felicia, Li, Yong, Tayo, Bamidele, Tin, Adrienne, Feitosa, Mary F., Aspelund, Thor, Attia, John, Biffar, Reiner, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid, Bottinger, Erwin P., Chen, Ming Huei, Chouraki, Vincent, Ciullo, Marina, Coresh, Josef, Cornelis, Marilyn C., Curhan, Gary C., D'Adamo, Adamo Pio, Dehghan, Abbas, Dengler, Laura, Ding, Jingzhong, Eiriksdottir, Gudny, Endlich, Karlhans, Enroth, Stefan, Esko, Tõnu, Franco, Oscar H., Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hancock, Stephen J., Harris, Tamara B., Helmer, Catherine, Höllerer, Simon, Hofer, Edith, Hofman, Albert, Holliday, Elizabeth G., Homuth, Georg, Hu, Frank B., Huth, Cornelia, Hutri-Kähönen, Nina, Hwang, Shih Jen, Imboden, Medea, Johansson, Asa, Kähönen, Mika, König, Wolfgang, Kramer, Holly, Krämer, Bernhard K., Kumar, Ashish, Kutalik, Zoltan, Lambert, Jean Charles, Launer, Lenore J., Lehtimäki, Terho, De Borst, Martin H., Navis, Gerjan, Swertz, Morris, Liu, Yongmei, Lohman, Kurt, Loos, Ruth J.F., Lu, Yingchang, Lyytikäinen, Leo Pekka, McEvoy, Mark A., Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Metzger, Marie, Mihailov, Evelin, Mitchell, Paul, Nauck, Matthias, Oldehinkel, Albertine J., Olden, Matthias, Penninx, Brenda W.J.H., Pistis, Giorgio, Pramstaller, Peter P., Probst-Hensch, Nicole, Raitakari, Olli T., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Robino, Antonietta, Rosas, Sylvia E., Ruderfer, Douglas, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J., Sedaghat, Sanaz, Smith, Albert V., Sorice, Rossella, Stengel, Benedicte, Stracke, Sylvia, Strauch, Konstantin, Toniolo, Daniela, Uitterlinden, Andre G., Ulivi, Sheila, Viikari, Jorma S., Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Vuckovic, Dragana, Waldenberger, Melanie, Wang, Jie Jin, Yang, Qiong, Chasman, Daniel I., Tromp, Gerard, Snieder, Harold, Heid, Iris M., Fox, Caroline S., Köttgen, Anna, Pattaro, Cristian, Böger, Carsten A., Fuchsberger, Christian, Psychiatry, and APH - Mental Health
Abstract: HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-Analysis of kidney function based on the estimated glomerular filtration rate (EGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10-8 previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until wholegenome sequencing becomes feasible in large samples.
Published: 2017

9. Additional file 3: of GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data

Author: Summa, Simona De, Malerba, Giovanni, Pinto, Rosamaria, Mori, Antonio, Mijatovic, Vladan, and Tommasi, Stefania
Subjects: ComputingMethodologies_PATTERNRECOGNITION, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING
Abstract: Classification trees to set filter rules. (PDF 9 kb)
Published: 2017
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10. Additional file 1: of GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data

Author: Summa, Simona De, Malerba, Giovanni, Pinto, Rosamaria, Mori, Antonio, Mijatovic, Vladan, and Tommasi, Stefania
Abstract: Technical definitions of Parameters of Sequencing Quality. (PDF 107 kb)
Published: 2017
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11. Additional file 2: of GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data

Author: Summa, Simona De, Malerba, Giovanni, Pinto, Rosamaria, Mori, Antonio, Mijatovic, Vladan, and Tommasi, Stefania
Subjects: body regions, nervous system, fungi, nutritional and metabolic diseases, nervous system diseases
Abstract: Performance of all individual filters to discriminate between true and false variants estimated by the area under the ROC curve (AUC). (PDF 595 kb)
Published: 2017
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12. 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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13. 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

14. Genetic invalidation of Lp-PLA2 as a therapeutic target:Large-scale study of five functional Lp-PLA2-lowering alleles

Author: Gregson, John M, Freitag, Daniel F, Surendran, Praveen, Stitziel, Nathan O, Chowdhury, Rajiv, Burgess, Stephen, Kaptoge, Stephen, Gao, Pei, Staley, James R, Willeit, Peter, Nielsen, Sune F, Caslake, Muriel, Trompet, Stella, Polfus, Linda M, Kuulasmaa, Kari, Kontto, Jukka, Perola, Markus, Blankenberg, Stefan, Veronesi, Giovanni, Gianfagna, Francesco, Männistö, Satu, Kimura, Akinori, Lin, Honghuang, Reilly, Dermot F, Gorski, Mathias, Mijatovic, Vladan, Munroe, Patricia B, Ehret, Georg B, Thompson, Alex, Uria-Nickelsen, Maria, Malarstig, Anders, Dehghan, Abbas, Vogt, Thomas F, Sasaoka, Taishi, Takeuchi, Fumihiko, Kato, Norihiro, Yamada, Yoshiji, Kee, Frank, Müller-Nurasyid, Martina, Ferrières, Jean, Arveiler, Dominique, Amouyel, Philippe, Salomaa, Veikko, Boerwinkle, Eric, Thompson, Simon G, Ford, Ian, Wouter Jukema, J, Sattar, Naveed, Packard, Chris J, Shafi Majumder, Abdulla Al, Alam, Dewan S, Deloukas, Panos, Schunkert, Heribert, Samani, Nilesh J, Kathiresan, Sekar, Nordestgaard, Børge G, Saleheen, Danish, Howson, Joanna Mm, Di Angelantonio, Emanuele, Butterworth, Adam S, Danesh, John, Gregson, John M, Freitag, Daniel F, Surendran, Praveen, Stitziel, Nathan O, Chowdhury, Rajiv, Burgess, Stephen, Kaptoge, Stephen, Gao, Pei, Staley, James R, Willeit, Peter, Nielsen, Sune F, Caslake, Muriel, Trompet, Stella, Polfus, Linda M, Kuulasmaa, Kari, Kontto, Jukka, Perola, Markus, Blankenberg, Stefan, Veronesi, Giovanni, Gianfagna, Francesco, Männistö, Satu, Kimura, Akinori, Lin, Honghuang, Reilly, Dermot F, Gorski, Mathias, Mijatovic, Vladan, Munroe, Patricia B, Ehret, Georg B, Thompson, Alex, Uria-Nickelsen, Maria, Malarstig, Anders, Dehghan, Abbas, Vogt, Thomas F, Sasaoka, Taishi, Takeuchi, Fumihiko, Kato, Norihiro, Yamada, Yoshiji, Kee, Frank, Müller-Nurasyid, Martina, Ferrières, Jean, Arveiler, Dominique, Amouyel, Philippe, Salomaa, Veikko, Boerwinkle, Eric, Thompson, Simon G, Ford, Ian, Wouter Jukema, J, Sattar, Naveed, Packard, Chris J, Shafi Majumder, Abdulla Al, Alam, Dewan S, Deloukas, Panos, Schunkert, Heribert, Samani, Nilesh J, Kathiresan, Sekar, Nordestgaard, Børge G, Saleheen, Danish, Howson, Joanna Mm, Di Angelantonio, Emanuele, Butterworth, Adam S, and Danesh, John
Published: 2017

15. Correction: Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

Author: Gorski, Mathias, primary, Most, Peter J. van der, additional, Teumer, Alexander, additional, Chu, Audrey Y., additional, Li, Man, additional, Mijatovic, Vladan, additional, Nolte, Ilja M., additional, Cocca, Massimiliano, additional, Taliun, Daniel, additional, Gomez, Felicia, additional, Li, Yong, additional, Tayo, Bamidele, additional, Tin, Adrienne, additional, Feitosa, Mary F., additional, Aspelund, Thor, additional, Attia, John, additional, Biffar, Reiner, additional, Bochud, Murielle, additional, Boerwinkle, Eric, additional, Borecki, Ingrid, additional, Bottinger, Erwin P., additional, Chen, Ming-Huei, additional, Chouraki, Vincent, additional, Ciullo, Marina, additional, Coresh, Josef, additional, Cornelis, Marilyn C., additional, Curhan, Gary C., additional, Adamo, Adamo Pio d’, additional, Dehghan, Abbas, additional, Dengler, Laura, additional, Ding, Jingzhong, additional, Eiriksdottir, Gudny, additional, Endlich, Karlhans, additional, Enroth, Stefan, additional, Esko, Tõnu, additional, Franco, Oscar H., additional, Gasparini, Paolo, additional, Gieger, Christian, additional, Girotto, Giorgia, additional, Gottesman, Omri, additional, Gudnason, Vilmundur, additional, Gyllensten, Ulf, additional, Hancock, Stephen J., additional, Harris, Tamara B., additional, Helmer, Catherine, additional, Höllerer, Simon, additional, Hofer, Edith, additional, Hofman, Albert, additional, Holliday, Elizabeth G., additional, Homuth, Georg, additional, Hu, Frank B., additional, Huth, Cornelia, additional, Hutri-Kähönen, Nina, additional, Hwang, Shih-Jen, additional, Imboden, Medea, additional, Johansson, Åsa, additional, Kähönen, Mika, additional, König, Wolfgang, additional, Kramer, Holly, additional, Krämer, Bernhard K., additional, Kumar, Ashish, additional, Kutalik, Zoltan, additional, Lambert, Jean-Charles, additional, Launer, Lenore J., additional, Lehtimäki, Terho, additional, de Borst, Martin H., additional, Navis, Gerjan, additional, Swertz, Morris, additional, Liu, Yongmei, additional, Lohman, Kurt, additional, Loos, Ruth J. F., additional, Lu, Yingchang, additional, Lyytikäinen, Leo-Pekka, additional, McEvoy, Mark A., additional, Meisinger, Christa, additional, Meitinger, Thomas, additional, Metspalu, Andres, additional, Metzger, Marie, additional, Mihailov, Evelin, additional, Mitchell, Paul, additional, Nauck, Matthias, additional, Oldehinkel, Albertine J., additional, Olden, Matthias, additional, WJH Penninx, Brenda, additional, Pistis, Giorgio, additional, Pramstaller, Peter P., additional, Probst-Hensch, Nicole, additional, Raitakari, Olli T., additional, Rettig, Rainer, additional, Ridker, Paul M., additional, Rivadeneira, Fernando, additional, Robino, Antonietta, additional, Rosas, Sylvia E., additional, Ruderfer, Douglas, additional, Ruggiero, Daniela, additional, Saba, Yasaman, additional, Sala, Cinzia, additional, Schmidt, Helena, additional, Schmidt, Reinhold, additional, Scott, Rodney J., additional, Sedaghat, Sanaz, additional, Smith, Albert V., additional, Sorice, Rossella, additional, Stengel, Benedicte, additional, Stracke, Sylvia, additional, Strauch, Konstantin, additional, Toniolo, Daniela, additional, Uitterlinden, Andre G., additional, Ulivi, Sheila, additional, Viikari, Jorma S., additional, Völker, Uwe, additional, Vollenweider, Peter, additional, Völzke, Henry, additional, Vuckovic, Dragana, additional, Waldenberger, Melanie, additional, Wang, Jie Jin, additional, Yang, Qiong, additional, Chasman, Daniel I., additional, Tromp, Gerard, additional, Snieder, Harold, additional, Heid, Iris M., additional, Fox, Caroline S., additional, Köttgen, Anna, additional, Pattaro, Cristian, additional, Böger, Carsten A., additional, and Fuchsberger, Christian, additional
Published: 2017
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16. GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data

Author: De Summa, Simona, primary, Malerba, Giovanni, additional, Pinto, Rosamaria, additional, Mori, Antonio, additional, Mijatovic, Vladan, additional, and Tommasi, Stefania, additional
Published: 2017
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17. The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Author: Ehret, Georg B., Ferreira, Teresa, Chasman, Daniel I., Jackson, Anne U., Schmidt, Ellen M., Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A., Kanoni, Stavroula, Petersen, Ann -Kristin, Pihurl, Vasyl, Strawbridge, Rona J., Shungin, Dmitry, Hughes, Maria F., Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E., Guo, Xiuqing, Lyytikainen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M., Magnusson, Patrik K., Salfati, Elias L., Rallidis, Loukianos S., Theusch, Elizabeth, Smith, Andrew J. P., Folkersen, Lasse, Witkowska, Kate, Pers, Tune H., Joehanes, Roby, Kim, Stuart K., Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D., Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O., Bochud, Murielle, Absher, Devin, Adair, Linda S., Amin, Najaf, Arkingl, Dan E., Axelsson, Tomas, Baldassarre, Damian, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R., Barroso, Ines, Bevan, Stephen, Bis, Joshua C., Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L., Boomsma, Dorret I., Bornstein, Stefan R., Brown, Morris J., Burnier, Michel, Cabrera, Claudia P., Chambers, John C., Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S., Chung, Ren-Hua, Collins, Francis S., Connell, John M., Doring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F., Doney, Alex S. F., Drenos, Fotios, Edkins, Sarah, Eicher, John D., Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farra, Martin, Felixl, Janine F., Ferrieres, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschinil, Nora, Franco, Oscar H., Franco-Cereceda, Anders, Fraser, Ross M., Ganesh, Santhi K., Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goe, Anuj, Goodall, Alison H., Goodarzi, Mark, Gorski, Mathias, Grassler, Jurgen, Groves, Christopher J., Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S., Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A., Hingorani, Aroon D., Hirschhorn, Joel N., Hofmanl, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A., Hunt, Steven C., Ikram, M. Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A., Kahonen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J., Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S., Kosova, Gulum, Krauss, Ronald M., Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A., Lee, Nanette R., Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindstrom, Jaana, Lobbens, Stephane, Mannisto, Satu, Muller, Gabriele, Muller-Nurasyid, Martina, Mach, Francois, Markus, Hugh S., Marouli, Eirini, McCarthy, Mark I., McKenzie, Colin A., Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E., Morris, Andrew D., Morrison, Alanna C., Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J., O'Reilly, Paul F., Ong, Ken K., Paccaud, Fred, Palmer, Cameron D., Parsa, Afshin, Pedersen, Nancy L., Penninx, Brenda W., Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P., Psaty, Bruce M., Quertermous, Thomas, Rao, Dabeeru C., Rasheed, Asif, Rayner, N. William, Renstrom, Frida, Rettig, Rainer, Rice, Kenneth M., Roberts, Robert, Rose, Lynda M., Rossouw, Jacques, Samani, Nilesh J., Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H., Smith, Albert V., Sosa, Maria X., Spector, Tim D., Stancakova, Alena, Stanton, Alice V., Stirrups, Kathleen E., Stringham, Heather M., Sundström, Johan, Swift, Amy J., Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V., Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D., Tremoli, Elena, Uitterlinden, Andre G., Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M., van Iperen, Erik P. A., Vasan, Ramachandran S., Verwoert, Germaine C., Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F., Vollenweider, Peter, Wagner, Aline, Wain, Louise V., Wareham, Nicholas J., Watldns, Hugh, Weder, Alan B., Westra, Harm Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F., Wong, Tien Y., Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S., Mohlke, Karen L., Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J., Willer, Cristen J., Franke, Lude, Hovingh, G. Kees, Taylor, Kent D., Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L., Njolstad, Inger, Schwarz, Peter E. H., Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J., Melander, E., Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimaki, Terho, Hveem, Kristian, Palmas, Walter, Marz, Winfried, Kumar, Meena, Salomaa, Veikko, Chen, Yii-Der I., Rotter, Jerome I., Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G., Kuulasmaa, Kari, Franks, Paul W., Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N. A., Stefansson, Kari, Ridker, Paul M., Loos, Ruth J. F., Chalcravarti, Aravinda, Deloukas, Panos, Morris, Andrew P., Newton-Cheh, Christopher, Munroe, Patricia B., Ehret, Georg B., Ferreira, Teresa, Chasman, Daniel I., Jackson, Anne U., Schmidt, Ellen M., Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A., Kanoni, Stavroula, Petersen, Ann -Kristin, Pihurl, Vasyl, Strawbridge, Rona J., Shungin, Dmitry, Hughes, Maria F., Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E., Guo, Xiuqing, Lyytikainen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M., Magnusson, Patrik K., Salfati, Elias L., Rallidis, Loukianos S., Theusch, Elizabeth, Smith, Andrew J. P., Folkersen, Lasse, Witkowska, Kate, Pers, Tune H., Joehanes, Roby, Kim, Stuart K., Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D., Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O., Bochud, Murielle, Absher, Devin, Adair, Linda S., Amin, Najaf, Arkingl, Dan E., Axelsson, Tomas, Baldassarre, Damian, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R., Barroso, Ines, Bevan, Stephen, Bis, Joshua C., Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L., Boomsma, Dorret I., Bornstein, Stefan R., Brown, Morris J., Burnier, Michel, Cabrera, Claudia P., Chambers, John C., Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S., Chung, Ren-Hua, Collins, Francis S., Connell, John M., Doring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F., Doney, Alex S. F., Drenos, Fotios, Edkins, Sarah, Eicher, John D., Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farra, Martin, Felixl, Janine F., Ferrieres, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschinil, Nora, Franco, Oscar H., Franco-Cereceda, Anders, Fraser, Ross M., Ganesh, Santhi K., Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goe, Anuj, Goodall, Alison H., Goodarzi, Mark, Gorski, Mathias, Grassler, Jurgen, Groves, Christopher J., Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S., Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A., Hingorani, Aroon D., Hirschhorn, Joel N., Hofmanl, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A., Hunt, Steven C., Ikram, M. Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A., Kahonen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J., Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S., Kosova, Gulum, Krauss, Ronald M., Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A., Lee, Nanette R., Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindstrom, Jaana, Lobbens, Stephane, Mannisto, Satu, Muller, Gabriele, Muller-Nurasyid, Martina, Mach, Francois, Markus, Hugh S., Marouli, Eirini, McCarthy, Mark I., McKenzie, Colin A., Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E., Morris, Andrew D., Morrison, Alanna C., Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J., O'Reilly, Paul F., Ong, Ken K., Paccaud, Fred, Palmer, Cameron D., Parsa, Afshin, Pedersen, Nancy L., Penninx, Brenda W., Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P., Psaty, Bruce M., Quertermous, Thomas, Rao, Dabeeru C., Rasheed, Asif, Rayner, N. William, Renstrom, Frida, Rettig, Rainer, Rice, Kenneth M., Roberts, Robert, Rose, Lynda M., Rossouw, Jacques, Samani, Nilesh J., Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H., Smith, Albert V., Sosa, Maria X., Spector, Tim D., Stancakova, Alena, Stanton, Alice V., Stirrups, Kathleen E., Stringham, Heather M., Sundström, Johan, Swift, Amy J., Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V., Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D., Tremoli, Elena, Uitterlinden, Andre G., Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M., van Iperen, Erik P. A., Vasan, Ramachandran S., Verwoert, Germaine C., Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F., Vollenweider, Peter, Wagner, Aline, Wain, Louise V., Wareham, Nicholas J., Watldns, Hugh, Weder, Alan B., Westra, Harm Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F., Wong, Tien Y., Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S., Mohlke, Karen L., Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J., Willer, Cristen J., Franke, Lude, Hovingh, G. Kees, Taylor, Kent D., Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L., Njolstad, Inger, Schwarz, Peter E. H., Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J., Melander, E., Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimaki, Terho, Hveem, Kristian, Palmas, Walter, Marz, Winfried, Kumar, Meena, Salomaa, Veikko, Chen, Yii-Der I., Rotter, Jerome I., Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G., Kuulasmaa, Kari, Franks, Paul W., Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N. A., Stefansson, Kari, Ridker, Paul M., Loos, Ruth J. F., Chalcravarti, Aravinda, Deloukas, Panos, Morris, Andrew P., Newton-Cheh, Christopher, and Munroe, Patricia B.
Abstract: To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney. Our findings expand current knowledge of blood pressure-related pathways and highlight tissues beyond the classical renal system in blood pressure regulation.
Published: 2016
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18. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Author: Cardiovasculaire Epidemiologie, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Cardiovasculaire Epi Team 5, Cardiovasculaire Epi Team 9, Cardiovasculaire Epi Team 3, Brain, Cancer, JC onderzoeksprogramma Kanker, Pattaro, Cristian, Teumer, Alexander, Gorski, Mathias, Chu, Audrey Y, Li, Man, Mijatovic, Vladan, Garnaas, Maija, Tin, Adrienne, Sorice, Rossella, Li, Yong, Taliun, Daniel, Olden, Matthias, Foster, Meredith, Yang, Qiong, Chen, Ming-Huei, Pers, Tune H, Johnson, Andrew D, Ko, Yi-An, Fuchsberger, Christian, Tayo, Bamidele, Nalls, Michael, Feitosa, Mary F, Isaacs, Aaron, Dehghan, Abbas, d'Adamo, Pio, Adeyemo, Adebowale, Dieffenbach, Aida Karina, Zonderman, Alan B, Nolte, Ilja M, van der Most, Peter J, Wright, Alan F, Shuldiner, Alan R, Morrison, Alanna C, Hofman, Albert, Smith, Albert V, Dreisbach, Albert W, Franke, Andre, Uitterlinden, Andre G, Metspalu, Andres, Tonjes, Anke, Lupo, Antonio, Robino, Antonietta, Johansson, Åsa, Demirkan, Ayse, Kollerits, Barbara, Freedman, Barry I, ICBP Consortium, van der Schouw, YT, Bots, Michael L, Grobbee, Diederick E, Moret, N. Charlotte, Cardiovasculaire Epidemiologie, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Cardiovasculaire Epi Team 5, Cardiovasculaire Epi Team 9, Cardiovasculaire Epi Team 3, Brain, Cancer, JC onderzoeksprogramma Kanker, Pattaro, Cristian, Teumer, Alexander, Gorski, Mathias, Chu, Audrey Y, Li, Man, Mijatovic, Vladan, Garnaas, Maija, Tin, Adrienne, Sorice, Rossella, Li, Yong, Taliun, Daniel, Olden, Matthias, Foster, Meredith, Yang, Qiong, Chen, Ming-Huei, Pers, Tune H, Johnson, Andrew D, Ko, Yi-An, Fuchsberger, Christian, Tayo, Bamidele, Nalls, Michael, Feitosa, Mary F, Isaacs, Aaron, Dehghan, Abbas, d'Adamo, Pio, Adeyemo, Adebowale, Dieffenbach, Aida Karina, Zonderman, Alan B, Nolte, Ilja M, van der Most, Peter J, Wright, Alan F, Shuldiner, Alan R, Morrison, Alanna C, Hofman, Albert, Smith, Albert V, Dreisbach, Albert W, Franke, Andre, Uitterlinden, Andre G, Metspalu, Andres, Tonjes, Anke, Lupo, Antonio, Robino, Antonietta, Johansson, Åsa, Demirkan, Ayse, Kollerits, Barbara, Freedman, Barry I, ICBP Consortium, van der Schouw, YT, Bots, Michael L, Grobbee, Diederick E, and Moret, N. Charlotte
Published: 2016

19. 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

20. EFFECTS OF DUPLEX-SPECIFIC NUCLEASE ON HUMAN CELL GENE EXPRESSION PROFILING USING RNA-SEQ

Author: Mijatovic, Vladan
Subjects: Settore MED/03 - Genetica Medica, RNA-Seq, Duplex-specific nuclease, Gene Expression Profiling, Next generation sequencing
Published: 2014

21. SNP detection by RNA-seq

Author: Xumerle, Luciano, Iacobucci, I., Mijatovic, Vladan, Mori, Antonio, Martinelli, Giovanni, Pignatti, Pierfranco, and Malerba, Giovanni
Subjects: hematology, Next generation sequencing, RNA-seq
Published: 2013

22. Detection of allele-specific gene expression on next generation sequencing data

Author: Mijatovic, Vladan, Xumerle, Luciano, Trabetti, Elisabetta, Prandini, Paola, Zusi, Chiara, Buson, Genny, Ferrarini, Alberto, Zamo', Alberto, Delledonne, Massimo, Pignatti, Pierfranco, and Malerba, Giovanni
Subjects: next generation sequencing, gene epression
Published: 2013

23. Valutazione del software Defuse per la rilevazione di fusioni geniche da esperimenti di Next Generation Sequencing

Author: Mori, Antonio, Xumerle, Luciano, Mijatovic, Vladan, Trabetti, Elisabetta, Pignatti, Pierfranco, and Malerba, Giovanni
Subjects: next generation sequencing, bioinformatica, fusioni geniche
Published: 2011

24. A bioinformatic framework to build junction databases for the detection of alternative splicing isoforms from Next Generation Sequencing data

Author: Xumerle, Luciano, Ferrarini, Alberto, Mijatovic, Vladan, Delledonne, Massimo, Pignatti, Pierfranco, and Malerba, Giovanni
Subjects: splice junction, Next Generation Sequencing, bioinformatics
Published: 2011

25. L’efficienza dell’imputing confrontando individui genotipizzati con 2 piattaforme diverse

Author: Mijatovic, Vladan, Malerba, Giovanni, Iacobucci, I., Xumerle, Luciano, Sazzini, M., Mori, Antonio, Martinelli, Giovanni, and Pignatti, Pierfranco
Subjects: inputing, malattie complesse, genotipizzazione, bioinformatica
Published: 2011

26. doRNA-seq: uno script per automatizzare l’analisi RNA-seq

Author: Xumerle, Luciano, Mori, Antonio, Ferrarini, Alberto, Mijatovic, Vladan, Pignatti, Pierfranco, and Malerba, Giovanni
Subjects: next generation sequencing, rna-seq, bioinformatica
Published: 2011

27. Next generation sequencing: new tools in immunology and hematology

Author: Mori, Antonio, primary, Deola, Sara, additional, Xumerle, Luciano, additional, Mijatovic, Vladan, additional, Malerba, Giovanni, additional, and Monsurrò, Vladia, additional
Published: 2013
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28. Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

Author: Teumer, Alexander, Tin, Adrienne, Sorice, Rossella, Gorski, Mathias, Nan Cher Yeo, Chu, Audrey Y., Man Li, Yong Li, Mijatovic, Vladan, Yi-An Ko, Taliun, Daniel, Luciani, Alessandro, Ming-Huei Chen, Qiong Yang, Foster, Meredith C., Olden, Matthias, Hiraki, Linda T., Tayo, Bamidele O., Fuchsberger, Christian, and Dieffenbach, Aida Karina
Subjects: ALBUMINS, KIDNEY diseases, CARDIOVASCULAR diseases, CUBILIN, SINGLE nucleotide polymorphisms, PROTEIN metabolism, TYPE 2 diabetes complications, ALBUMINURIA, ANIMAL experimentation, CELL receptors, DIABETES, DIABETIC nephropathies, DISEASE susceptibility, GENETIC polymorphisms, GENETIC techniques, KIDNEY tubules, KIDNEYS, META-analysis, TYPE 2 diabetes, PROTEINS, PROTEOLYTIC enzymes, RATS, RESEARCH funding, TRANSFERASES, SEQUENCE analysis
Abstract: Elevated concentrations of albumin in the urine, albuminuria, are a hallmark of diabetic kidney disease and are associated with an increased risk for end-stage renal disease and cardiovascular events. To gain insight into the pathophysiological mechanisms underlying albuminuria, we conducted meta-analyses of genome-wide association studies and independent replication in up to 5,825 individuals of European ancestry with diabetes and up to 46,061 without diabetes, followed by functional studies. Known associations of variants in CUBN, encoding cubilin, with the urinary albumin-to-creatinine ratio (UACR) were confirmed in the overall sample (P = 2.4 × 10(-10)). Gene-by-diabetes interactions were detected and confirmed for variants in HS6ST1 and near RAB38/CTSC. Single nucleotide polymorphisms at these loci demonstrated a genetic effect on UACR in individuals with but not without diabetes. The change in the average UACR per minor allele was 21% for HS6ST1 (P = 6.3 × 10(-7)) and 13% for RAB38/CTSC (P = 5.8 × 10(-7)). Experiments using streptozotocin-induced diabetic Rab38 knockout and control rats showed higher urinary albumin concentrations and reduced amounts of megalin and cubilin at the proximal tubule cell surface in Rab38 knockout versus control rats. Relative expression of RAB38 was higher in tubuli of patients with diabetic kidney disease compared with control subjects. The loci identified here confirm known pathways and highlight novel pathways influencing albuminuria. [ABSTRACT FROM AUTHOR]
Published: 2016
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29. Detection of allele-specific gene expression on Next Generation Sequencing data

Author: Mijatovic, Vladan, primary, Xumerle, Luciano, additional, Ferrarini, Alberto, additional, Iacobucci, Ilaria, additional, Pighi, Chiara, additional, Mori, Antonio, additional, Zusi, Chiara, additional, Prandini, Paola, additional, Trabetti, Elisabetta, additional, Delledonne, Massimo, additional, Martinelli, Giovanni, additional, Zamò, Alberto, additional, Pignatti, Pier F, additional, and Malerba, Giovanni, additional
Published: 2012
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30. Imputation reliability on DNA biallelic markers for drug metabolism studies

Author: Mijatovic, Vladan, primary, Iacobucci, Ilaria, additional, Sazzini, Marco, additional, Xumerle, Luciano, additional, Mori, Antonio, additional, Pignatti, Pier Franco, additional, Martinelli, Giovanni, additional, and Malerba, Giovanni, additional
Published: 2012
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31. Genetic invalidation of Lp-PLA2as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles

Author: Gregson, John M, Freitag, Daniel F, Surendran, Praveen, Stitziel, Nathan O, Chowdhury, Rajiv, Burgess, Stephen, Kaptoge, Stephen, Gao, Pei, Staley, James R, Willeit, Peter, Nielsen, Sune F, Caslake, Muriel, Trompet, Stella, Polfus, Linda M, Kuulasmaa, Kari, Kontto, Jukka, Perola, Markus, Blankenberg, Stefan, Veronesi, Giovanni, Gianfagna, Francesco, Männistö, Satu, Kimura, Akinori, Lin, Honghuang, Reilly, Dermot F, Gorski, Mathias, Mijatovic, Vladan, Munroe, Patricia B, Ehret, Georg B, Thompson, Alex, Uria-Nickelsen, Maria, Malarstig, Anders, Dehghan, Abbas, Vogt, Thomas F, Sasaoka, Taishi, Takeuchi, Fumihiko, Kato, Norihiro, Yamada, Yoshiji, Kee, Frank, Müller-Nurasyid, Martina, Ferrières, Jean, Arveiler, Dominique, Amouyel, Philippe, Salomaa, Veikko, Boerwinkle, Eric, Thompson, Simon G, Ford, Ian, Wouter Jukema, J, Sattar, Naveed, Packard, Chris J, Shafi Majumder, Abdulla al, Alam, Dewan S, Deloukas, Panos, Schunkert, Heribert, Samani, Nilesh J, Kathiresan, Sekar, Nordestgaard, Børge G, Saleheen, Danish, Howson, Joanna MM, Di Angelantonio, Emanuele, Butterworth, Adam S, and Danesh, John
Abstract: Aims Darapladib, a potent inhibitor of lipoprotein-associated phospholipase A2(Lp-PLA2), has not reduced risk of cardiovascular disease outcomes in recent randomized trials. We aimed to test whether Lp-PLA2enzyme activity is causally relevant to coronary heart disease.Methods In 72,657 patients with coronary heart disease and 110,218 controls in 23 epidemiological studies, we genotyped five functional variants: four rare loss-of-function mutations (c.109+2T > C (rs142974898), Arg82His (rs144983904), Val279Phe (rs76863441), Gln287Ter (rs140020965)) and one common modest-impact variant (Val379Ala (rs1051931)) in PLA2G7,the gene encoding Lp-PLA2. We supplemented de-novo genotyping with information on a further 45,823 coronary heart disease patients and 88,680 controls in publicly available databases and other previous studies. We conducted a systematic review of randomized trials to compare effects of darapladib treatment on soluble Lp-PLA2activity, conventional cardiovascular risk factors, and coronary heart disease risk with corresponding effects of Lp-PLA2-lowering alleles.Results Lp-PLA2activity was decreased by 64% (p= 2.4 × 10–25) with carriage of any of the four loss-of-function variants, by 45% (p< 10–300) for every allele inherited at Val279Phe, and by 2.7% (p= 1.9 × 10–12) for every allele inherited at Val379Ala. Darapladib 160 mg once-daily reduced Lp-PLA2activity by 65% (p< 10–300). Causal risk ratios for coronary heart disease per 65% lower Lp-PLA2activity were: 0.95 (0.88–1.03) with Val279Phe; 0.92 (0.74–1.16) with carriage of any loss-of-function variant; 1.01 (0.68–1.51) with Val379Ala; and 0.95 (0.89–1.02) with darapladib treatment.Conclusions In a large-scale human genetic study, none of a series of Lp-PLA2-lowering alleles was related to coronary heart disease risk, suggesting that Lp-PLA2is unlikely to be a causal risk factor.
Published: 2017
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32. The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Author: Ehret, Georg B, Ferreira, Teresa, Chasman, Daniel I, Jackson, Anne U, Schmidt, Ellen M, Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A, Kanoni, Stavroula, Petersen, Ann-Kristin, Pihur, Vasyl, Strawbridge, Rona J, Shungin, Dmitry, Hughes, Maria F, Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E, Guo, Xiuqing, Lyytikäinen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M, Magnusson, Patrik K, Salfati, Elias L, Rallidis, Loukianos S, Theusch, Elizabeth, Smith, Andrew J P, Folkersen, Lasse, Witkowska, Kate, Pers, Tune H, Joehanes, Roby, Kim, Stuart K, Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D, Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O, Bochud, Murielle, Absher, Devin, Adair, Linda S, Amin, Najaf, Arking, Dan E, Axelsson, Tomas, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R, Barroso, Inês, Bevan, Stephen, Bis, Joshua C, Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Bornstein, Stefan R, Brown, Morris J, Burnier, Michel, Cabrera, Claudia P, Chambers, John C, Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S, Chung, Ren-Hua, Collins, Francis S, Connell, John M, Döring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F, Doney, Alex S F, Drenos, Fotios, Edkins, Sarah, Eicher, John D, Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farrall, Martin, Felix, Janine F, Ferrières, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschini, Nora, Franco, Oscar H, Franco-Cereceda, Anders, Fraser, Ross M, Ganesh, Santhi K, Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goel, Anuj, Goodall, Alison H, Goodarzi, Mark O, Gorski, Mathias, Gräßler, Jürgen, Groves, Christopher J, Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S, Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A, Hingorani, Aroon D, Hirschhorn, Joel N, Hofman, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A, Hunt, Steven C, Ikram, M Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A, Kähönen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J, Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S, Kosova, Gulum, Krauss, Ronald M, Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Lee, Nanette R, Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindström, Jaana, Lobbens, Stéphane, Männistö, Satu, Müller, Gabriele, Müller-Nurasyid, Martina, Mach, François, Markus, Hugh S, Marouli, Eirini, McCarthy, Mark I, McKenzie, Colin A, Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E, Morris, Andrew D, Morrison, Alanna C, Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J, O'Reilly, Paul F, Ong, Ken K, Paccaud, Fred, Palmer, Cameron D, Parsa, Afshin, Pedersen, Nancy L, Penninx, Brenda W, Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rao, Dabeeru C, Rasheed, Asif, Rayner, N William, Renström, Frida, Rettig, Rainer, Rice, Kenneth M, Roberts, Robert, Rose, Lynda M, Rossouw, Jacques, Samani, Nilesh J, Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H, Smith, Albert V, Sosa, Maria X, Spector, Tim D, Stančáková, Alena, Stanton, Alice V, Stirrups, Kathleen E, Stringham, Heather M, Sundstrom, Johan, Swift, Amy J, Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V, Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D, Tremoli, Elena, Uitterlinden, Andre G, Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M, van Iperen, Erik P A, Vasan, Ramachandran S, Verwoert, Germaine C, Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F, Vollenweider, Peter, Wagner, Aline, Wain, Louise V, Wareham, Nicholas J, Watkins, Hugh, Weder, Alan B, Westra, Harm-Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F, Wong, Tien Y, Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S, Mohlke, Karen L, Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J, Willer, Cristen J, Franke, Lude, Hovingh, G Kees, Taylor, Kent D, Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L, Njølstad, Inger, Schwarz, Peter E H, Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J, Melander, Olle, Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimäki, Terho, Hveem, Kristian, Palmas, Walter, März, Winfried, Kumari, Meena, Salomaa, Veikko, Chen, Yii-Der I, Rotter, Jerome I, Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G, Kuulasmaa, Kari, Franks, Paul W, Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N A, Stefansson, Kari, Ridker, Paul M, Loos, Ruth J F, Chakravarti, Aravinda, Deloukas, Panos, Morris, Andrew P, Newton-Cheh, Christopher, and Munroe, Patricia B
Abstract: To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure–associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney. Our findings expand current knowledge of blood pressure–related pathways and highlight tissues beyond the classical renal system in blood pressure regulation.
Published: 2016
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33. Genome-wide Association Studies Identify Genetic Loci Associated with Albuminuria in Diabetes

Author: Teumer, Alexander, Tin, Adrienne, Sorice, Rossella, Gorski, Mathias, Yeo, Nan Cher, Chu, Audrey Y, Li, Man, Li, Yong, Mijatovic, Vladan, Ko, Yi-An, Taliun, Daniel, Luciani, Alessandro, Chen, Ming-Huei, Yang, Qiong, Foster, Meredith C, Olden, Matthias, Hiraki, Linda T, Tayo, Bamidele O, Fuchsberger, Christian, Dieffenbach, Aida Karina, Shuldiner, Alan R, Smith, Albert V, Zappa, Allison M, Lupo, Antonio, Kollerits, Barbara, Ponte, Belen, Stengel, Bénédicte, Krämer, Bernhard K, Paulweber, Bernhard, Mitchell, Braxton D, Hayward, Caroline, Helmer, Catherine, Meisinger, Christa, Gieger, Christian, Shaffer, Christian M, Müller, Christian, Langenberg, Claudia, Ackermann, Daniel, Siscovick, David, Boerwinkle, Eric, Kronenberg, Florian, Ehret, Georg B, Homuth, Georg, Waeber, Gerard, Navis, Gerjan, Gambaro, Giovanni, Malerba, Giovanni, Eiriksdottir, Gudny, Li, Guo, Wichmann, H Erich, Grallert, Harald, Wallaschofski, Henri, Völzke, Henry, Brenner, Herrmann, Kramer, Holly, Leach, I Mateo, Rudan, Igor, Hillege, J L, Beckmann, Jacques S, Lambert, Jean Charles, Luan, Jian'an, Zhao, Jing Hua, Chalmers, John, Coresh, Josef, Denny, Joshua C, Butterbach, Katja, Launer, Lenore J, Ferrucci, Luigi, Kedenko, Lyudmyla, Haun, Margot, Metzger, Marie, Woodward, Mark, Hoffman, Matthew J, Nauck, Matthias, Waldenberger, Melanie, Pruijm, Menno, Bochud, Murielle, Rheinberger, Myriam, Verweij, N, Wareham, Nicholas J, Endlich, Nicole, Soranzo, Nicole, Polasek, Ozren, Van Der Harst, P, Pramstaller, Peter Paul, Vollenweider, Peter, Wild, Philipp S, Gansevoort, R T, Rettig, Rainer, Biffar, Reiner, Carroll, Robert J, Katz, Ronit, Loos, Ruth J F, Hwang, Shih-Jen, Coassin, Stefan, Bergmann, Sven, Rosas, Sylvia E, Stracke, Sylvia, Harris, Tamara B, Corre, Tanguy, Zeller, Tanja, Illig, Thomas, Aspelund, Thor, Tanaka, Toshiko, Lendeckel, Uwe, Völker, Uwe, Gudnason, Vilmundur, Chouraki, Vincent, Koenig, Wolfgang, Kutalik, Zoltan, O'Connell, Jeffrey R, Parsa, Afshin, Heid, Iris M, Paterson, Andrew D, De Boer, Ian H, Devuyst, Olivier, Lazar, Jozef, Endlich, Karlhans, Susztak, Katalin, Tremblay, Johanne, Hamet, Pavel, Jacob, Howard J, Böger, Carsten A, Fox, Caroline S, Pattaro, Cristian, and Köttgen, Anna
Subjects: 570 Life sciences, biology, 610 Medicine & health, 3. Good health
Abstract: Elevated concentrations of albumin in the urine, albuminuria, are a hallmark of diabetic kidney disease and associate with increased risk for end-stage renal disease and cardiovascular events. To gain insight into the pathophysiological mechanisms underlying albuminuria, we conducted meta-analyses of genome-wide association studies and independent replication in up to 5,825 individuals of European ancestry with diabetes mellitus and up to 46,061 without diabetes, followed by functional studies. Known associations of variants in CUBN, encoding cubilin, with the urinary albumin-to-creatinine ratio (UACR) were confirmed in the overall sample (p=2.4*10(-10)). Gene-by-diabetes interactions were detected and confirmed for variants in HS6ST1 and near RAB38/CTSC. SNPs at these loci demonstrated a genetic effect on UACR in individuals with but not without diabetes. The change in average UACR per minor allele was 21% for HS6ST1 and 13% for RAB38/CTSC (p=6.3*10(-7) and 5.8*10(-7), respectively). Experiments using streptozotocin-treated diabetic Rab38 knockout and control rats showed higher urinary albumin concentrations and reduced amounts of megalin and cubilin at the proximal tubule cell surface in Rab38 knockout vs. control rats. Relative expression of RAB38 was higher in tubuli of patients with diabetic kidney disease compared to controls. The loci identified here confirm known and highlight novel pathways influencing albuminuria.

34. 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

Author: Gorski, Mathias, van der Most, Peter J., Teumer, Alexander, Chu, Audrey Y., Li, Man, Mijatovic, Vladan, Nolte, Ilja M., Cocca, Massimiliano, Taliun, Daniel, Gomez, Felicia, Li, Yong, Tayo, Bamidele, Tin, Adrienne, Feitosa, Mary F., Aspelund, Thor, Attia, John, Biffar, Reiner, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid, Bottinger, Erwin P., Chen, Ming-Huei, Chouraki, Vincent, Ciullo, Marina, Coresh, Josef, Cornelis, Marilyn C., Curhan, Gary C., d’Adamo, Adamo Pio, Dehghan, Abbas, Dengler, Laura, Ding, Jingzhong, Eiriksdottir, Gudny, Endlich, Karlhans, Enroth, Stefan, Esko, Tõnu, Franco, Oscar H., Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hancock, Stephen J., Harris, Tamara B., Helmer, Catherine, Höllerer, Simon, Hofer, Edith, Hofman, Albert, Holliday, Elizabeth G., Homuth, Georg, Hu, Frank B., Huth, Cornelia, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Imboden, Medea, Johansson, Åsa, Kähönen, Mika, König, Wolfgang, Kramer, Holly, Krämer, Bernhard K., Kumar, Ashish, Kutalik, Zoltan, Lambert, Jean-Charles, Launer, Lenore J., Lehtimäki, Terho, de Borst, Martin, Navis, Gerjan, Swertz, Morris, Liu, Yongmei, Lohman, Kurt, Loos, Ruth J. F., Lu, Yingchang, Lyytikäinen, Leo-Pekka, McEvoy, Mark A., Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Metzger, Marie, Mihailov, Evelin, Mitchell, Paul, Nauck, Matthias, Oldehinkel, Albertine J., Olden, Matthias, Penninx, Brenda W. J. H., Pistis, Giorgio, Pramstaller, Peter P., Probst-Hensch, Nicole, Raitakari, Olli T., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Robino, Antonietta, Rosas, Sylvia E., Ruderfer, Douglas, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J., Sedaghat, Sanaz, Smith, Albert V., Sorice, Rossella, Stengel, Benedicte, Stracke, Sylvia, Strauch, Konstantin, Toniolo, Daniela, Uitterlinden, Andre G., Ulivi, Sheila, Viikari, Jorma S., Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Vuckovic, Dragana, Waldenberger, Melanie, Jin Wang, Jie, Yang, Qiong, Chasman, Daniel I., Tromp, Gerard, Snieder, Harold, Heid, Iris M., Fox, Caroline S., Köttgen, Anna, Pattaro, Cristian, Böger, Carsten A., and Fuchsberger, Christian
Subjects: 610 Medizin, GLOMERULAR-FILTRATION-RATE, COMMUNITY-BASED POPULATION, WIDE ASSOCIATION, SERUM CREATININE, GENOTYPE IMPUTATION, LINKAGE ANALYSIS, DISEASE, VARIANTS, INTEGRATION, HERITABILITY, 3. Good health
Abstract: HapMap imputed genome-wide association studies (GWAS) have revealed > 50 loci at which common variants with minor allele frequency > 5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 x 10(-8) previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until wholegenome sequencing becomes feasible in large samples.

35. 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

Author: Gorski, Mathias, Van Der Most, Peter J, Teumer, Alexander, Chu, Audrey Y, Li, Man, Mijatovic, Vladan, Nolte, Ilja M, Cocca, Massimiliano, Taliun, Daniel, Gomez, Felicia, Li, Yong, Tayo, Bamidele, Tin, Adrienne, Feitosa, Mary F, Aspelund, Thor, Attia, John, Biffar, Reiner, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid, Bottinger, Erwin P, Chen, Ming-Huei, Chouraki, Vincent, Ciullo, Marina, Coresh, Josef, Cornelis, Marilyn C, Curhan, Gary C, D'Adamo, Adamo Pio, Dehghan, Abbas, Dengler, Laura, Ding, Jingzhong, Eiriksdottir, Gudny, Endlich, Karlhans, Enroth, Stefan, Esko, Tõnu, Franco, Oscar H, Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hancock, Stephen J, Harris, Tamara B, Helmer, Catherine, Höllerer, Simon, Hofer, Edith, Hofman, Albert, Holliday, Elizabeth G, Homuth, Georg, Hu, Frank B, Huth, Cornelia, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Imboden, Medea, Johansson, Åsa, Kähönen, Mika, König, Wolfgang, Kramer, Holly, Krämer, Bernhard K, Kumar, Ashish, Kutalik, Zoltan, Lambert, Jean-Charles, Launer, Lenore J, Lehtimäki, Terho, De Borst, Martin, Navis, Gerjan, Swertz, Morris, Liu, Yongmei, Lohman, Kurt, Loos, Ruth JF, Lu, Yingchang, Lyytikäinen, Leo-Pekka, McEvoy, Mark A, Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Metzger, Marie, Mihailov, Evelin, Mitchell, Paul, Nauck, Matthias, Oldehinkel, Albertine J, Olden, Matthias, Wjh Penninx, Brenda, Pistis, Giorgio, Pramstaller, Peter P, Probst-Hensch, Nicole, Raitakari, Olli T, Rettig, Rainer, Ridker, Paul M, Rivadeneira, Fernando, Robino, Antonietta, Rosas, Sylvia E, Ruderfer, Douglas, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J, Sedaghat, Sanaz, Smith, Albert V, Sorice, Rossella, Stengel, Benedicte, Stracke, Sylvia, Strauch, Konstantin, Toniolo, Daniela, Uitterlinden, Andre G, Ulivi, Sheila, Viikari, Jorma S, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Vuckovic, Dragana, Waldenberger, Melanie, Jin Wang, Jie, Yang, Qiong, Chasman, Daniel I, Tromp, Gerard, Snieder, Harold, Heid, Iris M, Fox, Caroline S, Köttgen, Anna, Pattaro, Cristian, Böger, Carsten A, and Fuchsberger, Christian
Subjects: Gene Frequency, Genotyping Techniques, Genetic Loci, Genome, Human, Computational Biology, Humans, Kidney, Polymorphism, Single Nucleotide, 3. Good health, Genome-Wide Association Study
Abstract: HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10-8 previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until whole-genome sequencing becomes feasible in large samples.

36. The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Author: Ehret, Georg B, Ferreira, Teresa, Chasman, Daniel I, Jackson, Anne U, Schmidt, Ellen M, Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A, Kanoni, Stavroula, Petersen, Ann-Kristin, Pihur, Vasyl, Strawbridge, Rona J, Shungin, Dmitry, Hughes, Maria F, Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E, Guo, Xiuqing, Lyytikäinen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M, Magnusson, Patrik K, Salfati, Elias L, Rallidis, Loukianos S, Theusch, Elizabeth, Smith, Andrew J P, Folkersen, Lasse, Witkowska, Kate, Pers, Tune H, Joehanes, Roby, Kim, Stuart K, Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D, Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O, Bochud, Murielle, Absher, Devin, Adair, Linda S, Amin, Najaf, Arking, Dan E, Axelsson, Tomas, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R, Barroso, Inês, Bevan, Stephen, Bis, Joshua C, Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Bornstein, Stefan R, Brown, Morris J, Burnier, Michel, Cabrera, Claudia P, Chambers, John C, Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S, Chung, Ren-Hua, Collins, Francis S, Connell, John M, Döring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F, Doney, Alex S F, Drenos, Fotios, Edkins, Sarah, Eicher, John D, Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farrall, Martin, Felix, Janine F, Ferrières, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschini, Nora, Franco, Oscar H, Franco-Cereceda, Anders, Fraser, Ross M, Ganesh, Santhi K, Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goel, Anuj, Goodall, Alison H, Goodarzi, Mark O, Gorski, Mathias, Gräßler, Jürgen, Groves, Christopher J, Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S, Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A, Hingorani, Aroon D, Hirschhorn, Joel N, Hofman, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A, Hunt, Steven C, Ikram, M Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A, Kähönen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J, Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S, Kosova, Gulum, Krauss, Ronald M, Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Lee, Nanette R, Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindström, Jaana, Lobbens, Stéphane, Männistö, Satu, Müller, Gabriele, Müller-Nurasyid, Martina, Mach, François, Markus, Hugh S, Marouli, Eirini, McCarthy, Mark I, McKenzie, Colin A, Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E, Morris, Andrew D, Morrison, Alanna C, Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J, O'Reilly, Paul F, Ong, Ken K, Paccaud, Fred, Palmer, Cameron D, Parsa, Afshin, Pedersen, Nancy L, Penninx, Brenda W, Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rao, Dabeeru C, Rasheed, Asif, Rayner, N William, Renström, Frida, Rettig, Rainer, Rice, Kenneth M, Roberts, Robert, Rose, Lynda M, Rossouw, Jacques, Samani, Nilesh J, Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H, Smith, Albert V, Sosa, Maria X, Spector, Tim D, Stančáková, Alena, Stanton, Alice V, Stirrups, Kathleen E, Stringham, Heather M, Sundstrom, Johan, Swift, Amy J, Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V, Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D, Tremoli, Elena, Uitterlinden, Andre G, Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M, van Iperen, Erik P A, Vasan, Ramachandran S, Verwoert, Germaine C, Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F, Vollenweider, Peter, Wagner, Aline, Wain, Louise V, Wareham, Nicholas J, Watkins, Hugh, Weder, Alan B, Westra, Harm-Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F, Wong, Tien Y, Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S, Mohlke, Karen L, Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J, Willer, Cristen J, Franke, Lude, Hovingh, G Kees, Taylor, Kent D, Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L, Njølstad, Inger, Schwarz, Peter E H, Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J, Melander, Olle, Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimäki, Terho, Hveem, Kristian, Palmas, Walter, März, Winfried, Kumari, Meena, Salomaa, Veikko, Chen, Yii-Der I, Rotter, Jerome I, Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G, Kuulasmaa, Kari, Franks, Paul W, Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N A, Stefansson, Kari, Ridker, Paul M, Loos, Ruth J F, Chakravarti, Aravinda, Deloukas, Panos, Morris, Andrew P, Newton-Cheh, Christopher, Munroe, Patricia B, Ehret, Georg B, Ferreira, Teresa, Chasman, Daniel I, Jackson, Anne U, Schmidt, Ellen M, Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A, Kanoni, Stavroula, Petersen, Ann-Kristin, Pihur, Vasyl, Strawbridge, Rona J, Shungin, Dmitry, Hughes, Maria F, Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E, Guo, Xiuqing, Lyytikäinen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M, Magnusson, Patrik K, Salfati, Elias L, Rallidis, Loukianos S, Theusch, Elizabeth, Smith, Andrew J P, Folkersen, Lasse, Witkowska, Kate, Pers, Tune H, Joehanes, Roby, Kim, Stuart K, Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D, Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O, Bochud, Murielle, Absher, Devin, Adair, Linda S, Amin, Najaf, Arking, Dan E, Axelsson, Tomas, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R, Barroso, Inês, Bevan, Stephen, Bis, Joshua C, Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Bornstein, Stefan R, Brown, Morris J, Burnier, Michel, Cabrera, Claudia P, Chambers, John C, Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S, Chung, Ren-Hua, Collins, Francis S, Connell, John M, Döring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F, Doney, Alex S F, Drenos, Fotios, Edkins, Sarah, Eicher, John D, Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farrall, Martin, Felix, Janine F, Ferrières, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschini, Nora, Franco, Oscar H, Franco-Cereceda, Anders, Fraser, Ross M, Ganesh, Santhi K, Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goel, Anuj, Goodall, Alison H, Goodarzi, Mark O, Gorski, Mathias, Gräßler, Jürgen, Groves, Christopher J, Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S, Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A, Hingorani, Aroon D, Hirschhorn, Joel N, Hofman, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A, Hunt, Steven C, Ikram, M Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A, Kähönen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J, Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S, Kosova, Gulum, Krauss, Ronald M, Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Lee, Nanette R, Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindström, Jaana, Lobbens, Stéphane, Männistö, Satu, Müller, Gabriele, Müller-Nurasyid, Martina, Mach, François, Markus, Hugh S, Marouli, Eirini, McCarthy, Mark I, McKenzie, Colin A, Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E, Morris, Andrew D, Morrison, Alanna C, Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J, O'Reilly, Paul F, Ong, Ken K, Paccaud, Fred, Palmer, Cameron D, Parsa, Afshin, Pedersen, Nancy L, Penninx, Brenda W, Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rao, Dabeeru C, Rasheed, Asif, Rayner, N William, Renström, Frida, Rettig, Rainer, Rice, Kenneth M, Roberts, Robert, Rose, Lynda M, Rossouw, Jacques, Samani, Nilesh J, Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H, Smith, Albert V, Sosa, Maria X, Spector, Tim D, Stančáková, Alena, Stanton, Alice V, Stirrups, Kathleen E, Stringham, Heather M, Sundstrom, Johan, Swift, Amy J, Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V, Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D, Tremoli, Elena, Uitterlinden, Andre G, Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M, van Iperen, Erik P A, Vasan, Ramachandran S, Verwoert, Germaine C, Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F, Vollenweider, Peter, Wagner, Aline, Wain, Louise V, Wareham, Nicholas J, Watkins, Hugh, Weder, Alan B, Westra, Harm-Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F, Wong, Tien Y, Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S, Mohlke, Karen L, Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J, Willer, Cristen J, Franke, Lude, Hovingh, G Kees, Taylor, Kent D, Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L, Njølstad, Inger, Schwarz, Peter E H, Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J, Melander, Olle, Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimäki, Terho, Hveem, Kristian, Palmas, Walter, März, Winfried, Kumari, Meena, Salomaa, Veikko, Chen, Yii-Der I, Rotter, Jerome I, Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G, Kuulasmaa, Kari, Franks, Paul W, Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N A, Stefansson, Kari, Ridker, Paul M, Loos, Ruth J F, Chakravarti, Aravinda, Deloukas, Panos, Morris, Andrew P, Newton-Cheh, Christopher, and Munroe, Patricia B
Abstract: To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney. Our findings expand current knowledge of blood pressure-related pathways and highlight tissues beyond the classical renal system in blood pressure regulation.

37. SOS2 and ACP1 loci identified through large-scale exome chip analysis regulate kidney development and function

Author: Jacques E. Rossouw, Aldi T. Kraja, Daniel I. Chasman, Jennifer Wessel, Paul Mitchell, Erika Salvi, Adrienne Tin, Paul M. Ridker, David J. Carey, Daniele Braga, Sharon L.R. Kardia, Wolfgang König, Medea Imboden, Antonio Lupo, Paolo Gasparini, Glenn S. Gerhard, David J. Porteous, Karlhans Endlich, Mathias Gorski, Tuomas O. Kilpeläinen, Ivan Brandslund, Jinyan Huang, Min A. Jhun, Alexander P. Reiner, Christine Meisinger, Yong Li, Karen L. Mohlke, Anne U. Jackson, Janina M. Jeff, Iris M. Heid, Gary C. Curhan, Uwe Völker, Marju Orho-Melander, Allan Linneberg, Olli T. Raitakari, Caroline S. Fox, Vilmundur Gudnason, Charlotte Glümer, Ozren Polasek, Annette Kifley, David R. Weir, Konstantin Strauch, Albert V. Smith, Archie Campbell, Annette Peters, Nicole Probst-Hensch, Lu Qi, Rebecca D. Jackson, Eric Boerwinkle, Daniela Toniolo, Laura M. Yerges-Armstrong, Ruifang Li-Gao, Ian H. De Boer, Qiong Yang, Mika Kähönen, Carsten A. Böger, Dan E. Arking, Albert W. Dreisbach, Man Li, Mary F. Feitosa, Stephen T. Turner, Afshin Parsa, Charles Kooperberg, Jennifer E. Huffman, Sanaz Sedaghat, Omri Gottesman, Fernando Rivadeneira, Marit E. Jørgensen, Joshua C. Denny, Olivier Devuyst, Giovanni Malerba, Frank Schmidt, Robert J. Carroll, Michela Traglia, Chunyu Liu, Ruth J. F. Loos, Franco Giulianini, Daniel Levy, Terho Lehtimäki, Tarunveer S. Ahluwalia, Helena Kuivaniemi, Kurt Lohman, Vladan Mijatovic, Matthias Nauck, Henry Völzke, Aiko P. J. de Vries, Torben Hansen, Wolfram Goessling, Lenore J. Launer, Frank B. Hu, Tibor Fülöp, Nathan A. Bihlmeyer, Reedik Mägi, Gerard Tromp, Yingchang Lu, Jessica D. Faul, Nora Franceschini, Lise Lotte N. Husemoen, Leo Pekka Lyytikäinen, Markku Laakso, Dennis O. Mook-Kanamori, Ronit Katz, Dinesh Velayutham, Jennifer A. Smith, Teresa Nutile, David S. Siscovick, Ulrike Peters, Jie Jin Wang, Tamara B. Harris, Christina-Alexandra Schulz, Douglas Ruderfer, Mark O. Goodarzi, Oscar H. Franco, Yongmei Liu, Cramer Christensen, Nicole Soranzo, Audrey Y. Chu, Melanie Waldenberger, Oluf Pedersen, Ingrid B. Borecki, Peter Nürnberg, D. Cusi, Abbas Dehghan, Daniel R. Witte, Niels Grarup, Christian Fuchsberger, Sheila Ulivi, Josef Coresh, Evelin Mihailov, Ashok Kumar, Jennifer Kriebel, Jennifer A. Brody, Erwin P. Bottinger, Marilyn C. Cornelis, Torsten Lauritzen, Albert Hofman, Olivia Weeks, Rainer Rettig, Lynne J. Hocking, Giovanni Gambaro, André G. Uitterlinden, Anna Köttgen, Caroline Hayward, Alexander Teumer, Tõnu Esko, Antonietta Robino, Torben Jørgensen, Bruce M. Psaty, Ursula M. Schick, Rossella Sorice, Wei Zhao, Andres Metspalu, Pamela Linksted, Olle Melander, Jette Bork-Jensen, Errol D. Crook, 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, Hansen, Torben, 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., Epidemiology, Erasmus MC other, and Internal Medicine
Subjects: 0301 basic medicine, Nonsynonymous substitution, Nephrology, medicine.medical_specialty, human genetics, Renal function, Genome-wide association study, Single-nucleotide polymorphism, Biology, Kidney, 03 medical and health sciences, 0302 clinical medicine, kidney development, renal function, Clinical Research, Proto-Oncogene Proteins, Internal medicine, Animals, Exome, Genetic Loci, Genome-Wide Association Study, Glomerular Filtration Rate, Humans, Protein Tyrosine Phosphatases, Son of Sevenless Proteins, Zebrafish, Journal Article, medicine, Settore MED/14 - NEFROLOGIA, human genetic, Gene, Genetic association, Genetics, Proto-Oncogene Protein, Animal, Son of Sevenless Protein, General Medicine, ta3121, 030104 developmental biology, Human Genetics, Kidney Development, Renal Function, Protein Tyrosine Phosphatase, genome, nephron, 030217 neurology & neurosurgery, Meta-Analysis, Human
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
Published: 2017

38. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Author: Peter Kovacs, Alan F. Wright, Stephen Turner, Michèle M. Sale, Siim Sõber, Janoš Terzić, Elin Org, Richard S. Cooper, Alena Stančáková, Jerome I. Rotter, W. H. Linda Kao, Albert Hofman, Andrew B. Singleton, Florian Kronenberg, Jianjun Liu, Nicole L. Glazer, Christopher W. Knouff, Jennifer L. Bragg-Gresham, Juha Karjalainen, Li Ching Chang, Benjamin J. Wright, Jacqueline C.M. Witteman, Martin G. Larson, Klaus Stark, Richard J. Rodeheffer, Sharon L.R. Kardia, Douglas M. Ruderfer, Sheila Ulivi, Madhumathi Rao, Andrew A. Hicks, Eva Brand, Viviane Nicaud, Stephen G. Ball, Anna Köttgen, Germaine C. Verwoert, Anders Hamsten, Nick Shrine, Uwe Völker, Stefan Kloiber, Stephen Hancock, Emelia J. Benjamin, Bok Ghee Han, Kenneth Rice, Mark Woodward, Veronique Vitart, Karl Andersen, Nicholas J. Wareham, Robert Roberts, Maja Barbalić, David Couper, Yukinori Okada, André G. Uitterlinden, Sekar Kathiresan, Leo-Pekka Lyytikäinen, Pankaj Arora, Tatijana Zemunik, David S. Siscovick, Simonetta Guarrera, Dawn M. Waterworth, Tatjana Stojakovic, Braxton D. Mitchell, Devin Absher, Carmen A. Peralta, Mika Kivimäki, Xueling Sim, Norihiro Kato, Philippe Froguel, Keith L. Keene, Donna K. Arnett, Naoyuki Kamatani, Tazeen H. Jafar, Idris Guessous, Gunnar Jacobs, Michael M. Hoffmann, Kari Stefansson, Christian Hengstenberg, Tomonori Okamura, Inga Prokopenko, Christina Willenborg, Peter S. Braund, Rainer Rettig, Francesco U.S. Mattace-Raso, Vikal Tripathy, F. Gerald R. Fowkes, Laura R. Loehr, Harry Campbell, Margherita Cavalieri, Olle Melander, Hao Mei, I. Mateo Leach, Nicholette D. Palmer, Eva Albrecht, Naoharu Iwai, Stefan Martin Brand, Toshiko Tanaka, Jackie A. Cooper, Omri Gottesman, Manuela Uda, Angelo Scuteri, Aroon D. Hingorani, Cristiano Fava, Yusuke Nakamura, Jiang He, Min Jin Go, Serge Hercberg, Wendy L. McArdle, Philipp S. Wild, Florian Ernst, Paul Mitchell, Wolfgang Koenig, Caroline S. Fox, S. J.Cathy Fann, Janine F. Felix, Anna F. Dominiczak, Mike A. Nalls, Erik Ingelsson, Mario A. Morken, Susana Eyheramendy, Christopher Newton-Cheh, Igor Rudan, D. G. Vinay, Christopher P. Nelson, Ervin R. Fox, Xiuqing Guo, Jing Hua Zhao, Rick Twee-Hee Ong, Margaret M. Redfield, Oscar H. Franco, Yongmei Liu, Fulvio Ricceri, Mark A. Hlatky, Bernhard Paulweber, Mingyao Li, Themistocles L. Assimes, Karl Winkler, Inês Barroso, Sylvia E. Rosas, M Walker, Richard W Morris, Bo Hedblad, Hakon Hakonarson, Sonny Dandona, Peter H. Whincup, Martin Adam, Vilmundur Gudnason, Daniel Ackermann, Qiong Yang, Cuno S. P. M. Uiterwaal, Paul M. Ridker, George Davey Smith, Li Chen, C. Sinning, Terri L. Young, Jer-Yuarn Wu, Walter Palmas, Will Longstreth, Joe Devaney, Pavel Hamet, Xiaofeng Zhu, Fredrik Nyberg, Wilfried Renner, Anuj Goel, L. Adrienne Cupples, Nish Chaturvedi, Iftikhar J. Kullo, Nicholas D. Hastie, Aude Saint-Pierre, Panos Deloukas, Smita R. Kulkarni, Eric Boerwinkle, Wolfram Goessling, Gian Andri Thun, Eric J.G. Sijbrands, Shih-Jen Hwang, Carole Proust, Hirotsugu Ueshima, Kristian Hveem, Pierre Meneton, Joshua C. Denny, Olivier Devuyst, Kerri L. Wiggins, Ming-Huei Chen, Robert W. Lawrence, Robert L. Wilensky, Andre Franke, Nicole Soranzo, Simon Heath, Margot Haun, Karlhans Endlich, David Altshuler, Harald Grallert, Laurence Tiret, Luigi Ferrucci, Caroline Hayward, Sudha Seshadri, Bénédicte Stengel, Lynne E. Wagenknecht, John Attia, Andreas Ziegler, Renate B. Schnabel, Stefan Schreiber, Santosh Dahgam, Kurt Lohman, Christian M. Shaffer, Barbara Ludwig, Katalin Susztak, Chien-Hsiun Chen, Michele K. Evans, Paolo Vineis, Guo Li, Thomas J. Wang, Meena Kumari, Heather M. Stringham, Bruce M. Psaty, Norman Klopp, Halit Ongen, Ben A. Oostra, Stefan Coassin, Petra Bruse, Wei-Min Chen, Unnur Thorsteinsdottir, Charles N. Rotimi, Robert J. Carroll, Muredach P. Reilly, Niek Verweij, Dena G. Hernandez, Amy J. Swift, Barbara Kollerits, Hyung Lae Kim, Cristian Pattaro, Ivana Kolcic, Ronit Katz, John M. C. Connell, Dan E. Arking, Albert W. Dreisbach, Peter Vollenweider, C. S. Janipalli, Jian'an Luan, Erkki Vartiainen, James T. Willerson, John R. Thompson, Daniela Toniolo, Lyle J. Palmer, Alexander Teumer, Serkalem Demissie-Banjaw, Stella Trompet, James E. Hixson, Sue Shaw-Hawkins, Rossella Sorice, Bernhard R. Winkelmann, John Danesh, Anthony J. Balmforth, Toshio Ogihara, Jyotika K. Fernandes, Ulf Gyllensten, Ville Aalto, Åsa Johansson, Andres Metspalu, John F. Peden, Diana Kuh, Medea Imboden, Antonio Lupo, Su Chi Lim, Young-Jin Kim, Giovanni Malerba, Yurii S. Aulchenko, Satoshi Umemura, Ioanna Tzoulaki, Alan B. Weder, Helena Schmidt, Gerjan Navis, Susan R. Heckbert, Hans J. Rupprecht, Edward G. Lakatta, Christian Gieger, Najaf Amin, Paul Muntner, Lenore J. Launer, Ivana Persico, Hugh Watkins, Ian Ford, K. Radha Mani, Sylvia Stracke, Johanna Kuusisto, John Chalmers, Muhammad Islam, Lars Lind, Stefan R. Bornstein, Marjo-Riitta Järvelin, J. H. Young, Reiner Biffar, Santhi K. Ganesh, Kazuhiko Yamamoto, Annette Peters, Linda S. Adair, Tõnu Esko, Rebecca Hardy, Olga Jarinova, Antonietta Robino, Ruth McPherson, Benjamin F. Voight, Anne U. Jackson, Gang Shi, Stefania Bandinelli, Peter J. van der Most, John S. Gottdiener, Ying A. Wang, Mariza de Andrade, Joshua C. Bis, Leslie J. Raffel, Man Li, Jemma C. Hopewell, Bernhard O. Böhm, Aaron R. Folsom, Noël P. Burtt, S. Sidney, Diana Zelenika, Yuri Milaneschi, Pilar Galan, Iris M. Heid, Bernhard K. Krämer, Jean-Michel Gaspoz, Lynda M. Rose, Massimiliano Cocca, Jaap W. Deckers, Martin Farrall, Kent D. Taylor, Albert V. Smith, Candace Guiducci, Alan R. Shuldiner, Shiro Maeda, Liming Qu, Marilyn C. Cornelis, Xiaoling Wang, Daniel Shriner, Jutta Palmen, Yingchang Lu, Heyo K. Kroemer, Pio D'Adamo, Stephan J. L. Bakker, Tamara B. Harris, Myriam Rheinberger, Tetsuro Miki, Audrey Y. Chu, Ramachandran S. Vasan, Fuu Jen Tsai, Jan A. Staessen, Daniel I. Chasman, Jan Stritzke, Jasmin Divers, Meredith C. Foster, Jeanette M. Stafford, Maksim Struchalin, Arne Schillert, Jacques S. Beckmann, Mark E. Cooper, Jean-Charles Lambert, Mario Pirastu, Katja Butterbach, Carl G. P. Platou, Yan V. Sun, Marcus Fischer, Maciej Tomaszewski, Karl Werdan, Peng Chen, Daniel J. Rader, Thomas Münzel, Lowell F. Satler, Tom R. Gaunt, Brenda W.J.H. Penninx, William H. Matthai, John Whitfield, Rita P.S. Middelberg, Margus Viigimaa, Toshihiro Tanaka, Ida Yii Der Chen, Morris J. Brown, Valur Emilsson, J. Viikari, Wolfgang Lieb, Stephen E. Epstein, Harald Dobnig, Aravinda Chakravarti, Patrick Linsel-Nitschke, Stefan Pilz, Angela Doering, Sarah H. Wild, Patricia B. Munroe, Megan E. Rudock, Nicole Probst-Hensch, Danish Saleheen, Diederick E. Grobbee, Anke Tönjes, Narisu Narisu, Annika Rosengren, Masato Isono, Catherine Helmer, M. J.Kranthi Kumar, Alanna C. Morrison, Kay-Tee Khaw, Tanja Zeller, Jeffrey R. O'Connell, Christian Müller, Georg Homuth, Giriraj R. Chandak, Pankaj Sharma, Marcus Dörr, Veikko Salomaa, Paul F. O'Reilly, David Hadley, Hermann Brenner, Paolo Gasparini, Nanette R. Lee, Bamidele O. Tayo, Robert Clarke, Henri Wallaschofski, Marketa Sjögren, Abbas Dehghan, Melanie Waldenberger, Neil Risch, Vasyl Pihur, Jessica D. Faul, François Cambien, Christian Fuchsberger, Nicholas G. Martin, John C. Chambers, Zouhair Aherrahrou, Karl J. Lackner, Leif Groop, Matthias Olden, Wiek H. van Gilst, Mathias Gorski, Yvonne T. van der Schouw, Patrick Diemert, Christoph Bickel, Yik Ying Teo, Giorgio Pistis, Ruth J. F. Loos, Gudrun Veldre, Thorsten Reffelmann, Lude Franke, Karen L. Mohlke, Stefan Blankenberg, Massimo Mangino, Ian N. M. Day, Atsushi Takahashi, Alan B. Zonderman, Hua Tang, Reijo Laaksonen, Holly Kramer, Gary C. Curhan, Adrienne Tin, Talin Haritunians, Loic Yengo, Philip Howard, Arnika Kathleen Wagner, Anna Maria Corsi, Yen Pei C. Chang, Karin Halina Greiser, Jeanette Erdmann, Solveig Gretarsdottir, Sanjay Kinra, Alex Parker, Belen Ponte, Marina Ciullo, Michael Preuss, Tin Aung, Nicholas L. 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Brand, E., Braund, PS., Brown, MJ., Burton, PR., Casas, JP., Caulfield, MJ., Chakravarti, A., Chambers, JC., Chandak, GR., Chang, YP., Charchar, FJ., Chaturvedi, N., Shin Cho, Y., Clarke, R., Collins, FS., Collins, R., Connell, JM., Cooper, JA., Cooper, MN., Cooper, RS., Corsi, AM., Dörr, M., Dahgam, S., Danesh, J., Davey Smith, G., Day, IN., Deloukas, P., Denniff, M., Dominiczak, AF., Dong, Y., Doumatey, A., Elliott, P., Elosua, R., Erdmann, J., Eyheramendy, S., Farrall, M., Fava, C., Forrester, T., Fowkes, FG., Fox, ER., Frayling, TM., Galan, P., Ganesh, SK., Garcia, M., Gaunt, TR., Glazer, NL., Go, MJ., Goel, A., Grässler, J., Grobbee, DE., Groop, L., Guarrera, S., Guo, X., Hadley, D., Hamsten, A., Han, BG., Hardy, R., Hartikainen, AL., Heath, S., Heckbert, SR., Hedblad, B., Hercberg, S., Hernandez, D., Hicks, AA., Hilton, G., Hingorani, AD., Bolton, JA., Hopewell, JC., Howard, P., Humphries, SE., Hunt, SC., Hveem, K., Ikram, MA., Islam, M., Iwai, N., Jarvelin, MR., Jackson, AU., Jafar, TH., Janipalli, CS., Johnson, T., Kathiresan, S., Khaw, KT., Kim, HL., Kinra, S., Kita, Y., Kivimaki, M., Kooner, JS., Kumar, MJ., Kuh, D., Kulkarni, SR., Kumari, M., Kuusisto, J., Kuznetsova, T., Laakso, M., Laan, M., Laitinen, J., Lakatta, EG., Langefeld, CD., Larson, MG., Lathrop, M., Lawlor, DA., Lawrence, RW., Lee, JY., Lee, NR., Levy, D., Li, Y., Longstreth, WT., Luan£££Jian'an£££ J., Lucas, G., Ludwig, B., Mangino, M., Mani, KR., Marmot, MG., Mattace-Raso, FU., Matullo, G., McArdle, WL., McKenzie, CA., Meitinger, T., Melander, O., Meneton, P., Meschia, JF., Miki, T., Milaneschi, Y., Mohlke, KL., Mooser, V., Morken, MA., Morris, RW., Mosley, TH., Najjar, S., Narisu, N., Newton-Cheh, C., Nguyen, KD., Nilsson, P., Nyberg, F., O'Donnell, CJ., Ogihara, T., Ohkubo, T., Okamura, T., Ong, RT., Ongen, H., Onland-Moret, NC., O'Reilly, PF., Org, E., Orru, M., Palmas, W., Palmen, J., Palmer, LJ., Palmer, ND., Parker, AN., Peden, JF., Peltonen, L., Perola, M., Pihur, V., Platou, CG., Plump, A., Prabhakaran, D., Psaty, BM., Raffel, LJ., Rao, DC., Rasheed, A., Ricceri, F., Rice, KM., Rosengren, A., Rotter, JI., Rudock, ME., Sõber, S., Salako, T., Saleheen, D., Salomaa, V., Samani, NJ., Schwartz, SM., Schwarz, PE., Scott, LJ., Scott, J., Scuteri, A., Sehmi, JS., Seielstad, M., Seshadri, S., Sharma, P., Shaw-Hawkins, S., Shi, G., Shrine, NR., Sijbrands, EJ., Sim, X., Singleton, A., Sjögren, M., Smith, NL., Soler Artigas, M., Spector, TD., Staessen, JA., Stancakova, A., Steinle, NI., Strachan, DP., Stringham, HM., Sun, YV., Swift, AJ., Tabara, Y., Tai, ES., Talmud, PJ., Taylor, A., Terzic, J., Thelle, DS., Tobin, MD., Tomaszewski, M., Tripathy, V., Tuomilehto, J., Tzoulaki, I., Uda, M., Ueshima, H., Uiterwaal, CS., Umemura, S., van der Harst, P., van der Schouw YT., van Gilst WH., Vartiainen, E., Vasan, RS., Veldre, G., Verwoert, GC., Viigimaa, M., Vinay, DG., Vineis, P., Voight, BF., Vollenweider, P., Wagenknecht, LE., Wain, LV., Wang, X., Wang, TJ., Wareham, NJ., Watkins, H., Weder, AB., Whincup, PH., Wiggins, KL., Witteman, JC., Wong, A., Wu, Y., Yajnik, CS., Yao, J., Young, JH., Zelenika, D., Zhai, G., Zhang, W., Zhang, F., Zhao, JH., Zhu, H., Zhu, X., Zitting, P., Zukowska-Szczechowska, E., Okada, Y., Wu, JY., Gu, D., Takeuchi, F., Takahashi, A., Maeda, S., Tsunoda, T., Chen, P., Lim, SC., Wong, TY., Liu, J., Young, TL., Aung, T., Teo, YY., Kim, YJ., Kang, D., Chen, CH., Tsai, FJ., Chang, LC., Fann, SJ., Mei, H., Hixson, JE., Chen, S., Katsuya, T., Isono, M., Albrecht, E., Yamamoto, K., Kubo, M., Nakamura, Y., Kamatani, N., Kato, N., He, J., Chen, YT., Tanaka, T., Reilly, MP., Schunkert, H., Assimes, TL., Hall, A., Hengstenberg, C., König, IR., Laaksonen, R., McPherson, R., Thompson, JR., Thorsteinsdottir, U., Ziegler, A., Absher, D., Chen, L., Cupples, LA., Halperin, E., Li, M., Musunuru, K., Preuss, M., Schillert, A., Thorleifsson, G., Wells, GA., Holm, H., Roberts, R., Stewart, AF., Fortmann, S., Go, A., Hlatky, M., Iribarren, C., Knowles, J., Myers, R., Quertermous, T., Sidney, S., Risch, N., Tang, H., Blankenberg, S., Schnabel, R., Sinning, C., Lackner, KJ., Tiret, L., Nicaud, V., Cambien, F., Bickel, C., Rupprecht, HJ., Perret, C., Proust, C., Münzel, TF., Barbalic, M., Chen, IY., Demissie-Banjaw, S., Folsom, A., Lumley, T., Marciante, K., Taylor, KD., Volcik, K., Gretarsdottir, S., Gulcher, JR., Kong, A., Stefansson, K., Thorgeirsson, G., Andersen, K., Fischer, M., Grosshennig, A., Linsel-Nitschke, P., Stark, K., Schreiber, S., Aherrahrou, Z., Bruse, P., Doering, A., Klopp, N., Diemert, P., Loley, C., Medack, A., Nahrstedt, J., Peters, A., Wagner, AK., Willenborg, C., Böhm, BO., Dobnig, H., Grammer, TB., Hoffmann, MM., Meinitzer, A., Winkelmann, BR., Pilz, S., Renner, W., Scharnagl, H., Stojakovic, T., Tomaschitz, A., Winkler, K., Guiducci, C., Burtt, N., Gabriel, SB., Dandona, S., Jarinova, O., Qu, L., Wilensky, R., Matthai, W., Hakonarson, HH., Devaney, J., Burnett, MS., Pichard, AD., Kent, KM., Satler, L., Lindsay, JM., Waksman, R., Knouff, CW., Waterworth, DM., Walker, MC., Epstein, SE., Rader, DJ., Nelson, CP., Wright, BJ., Balmforth, AJ., Ball, SG., Loehr, LR., Rosamond, WD., Benjamin, E., Haritunians, T., Couper, D., Murabito, J., Wang, YA., Stricker, BH., Chang, PP., Willerson, JT., Felix, SB., Watzinger, N., Aragam, J., Zweiker, R., Lind, L., Rodeheffer, RJ., Greiser, KH., Deckers, JW., Stritzke, J., Ingelsson, E., Kullo, I., Haerting, J., Reffelmann, T., Redfield, MM., Werdan, K., Mitchell, GF., Arnett, DK., Gottdiener, JS., Blettner, M., and Friedrich, N.
Subjects: 0301 basic medicine, Nephrology, Genetics and Molecular Biology (all), estimated glomerular filtration rate, estimated glomerular filtration rate, chronic kidney disease, genetic determinants, General Physics and Astronomy, Kidney development, Genome-wide association study, Biochemistry, Settore MED/14 - NEFROLOGIA, Renal Insufficiency, Chronic, Genetics, AGEN Consortium, ddc:616, education.field_of_study, Kidney, Stage renal-disease, Multidisciplinary, Genome-wide association, CHARGe-Heart Failure Group, Gene Expression Regulation, Genome-Wide Association Study, Genotype, Humans, Renal Insufficiency, Chronic, Genetic Predisposition to Disease, Biochemistry, Genetics and Molecular Biology (all), Chemistry (all), Physics and Astronomy (all), Metaanalysis, Renal Insufficiency, Chronic/genetics, Biological sciences, Serum creatinine, medicine.anatomical_structure, Efficient, Ronyons -- Fisiologia, Hypertension, ICBP Consortium, Transmembrane transporter activity, genetic association, loci, kidney function, CARDIOGRAM, Human, medicine.medical_specialty, Science, Population, Renal function, ECHOGen Consortium, Replication, Biology, Environment, Research Support, General Biochemistry, Genetics and Molecular Biology, N.I.H, genetic determinants, 03 medical and health sciences, GENOME-WIDE ASSOCIATION, FALSE DISCOVERY RATES, STAGE RENAL-DISEASE, SERUM CREATININE, METAANALYSIS, VARIANTS, INDIVIDUALS, POPULATION, RISK, HYPERTENSION, Kidney function, Research Support, N.I.H., Extramural, Internal medicine, MD Multidisciplinary, medicine, Journal Article, eGFRcrea, eGFRcys, ddc:610, Genetik, Mortality, education, ddc:613, urogenital system, Individuals, Extramural, General Chemistry, ta3121, medicine.disease, R1, 030104 developmental biology, 570 Life sciences, biology, Genètica, chronic kidney disease, Kidney disease, Meta-Analysis
Abstract: Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways. J.T. and P.H. are consultants for Servier. J.C. received research grants and honoraria from Servier. K.S. obtained research support from Boehringer Ingelheim. The remaining authors declared no competing financial interests.
Published: 2016

39. Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

Author: Gorski M, Most PJV, Teumer A, Chu AY, Li M, Mijatovic V, Nolte IM, Cocca M, Taliun D, Gomez F, Li Y, Tayo B, Tin A, Feitosa MF, Aspelund T, Attia J, Biffar R, Bochud M, Boerwinkle E, Borecki I, Bottinger EP, Chen MH, Chouraki V, Ciullo M, Coresh J, Cornelis MC, Curhan GC, Adamo AP, Dehghan A, Dengler L, Ding J, Eiriksdottir G, Endlich K, Enroth S, Esko T, Franco OH, Gasparini P, Gieger C, Girotto G, Gottesman O, Gudnason V, Gyllensten U, Hancock SJ, Harris TB, Helmer C, Höllerer S, Hofer E, Hofman A, Holliday EG, Homuth G, Hu FB, Huth C, Hutri-Kähönen N, Hwang SJ, Imboden M, Johansson Å, Kähönen M, König W, Kramer H, Krämer BK, Kumar A, Kutalik Z, Lambert JC, Launer LJ, Lehtimäki T, de Borst MH, Navis G, Swertz M, Liu Y, Lohman K, Loos RJF, Lu Y, Lyytikäinen LP, McEvoy MA, Meisinger C, Meitinger T, Metspalu A, Metzger M, Mihailov E, Mitchell P, Nauck M, Oldehinkel AJ, Olden M, Wjh Penninx B, Pistis G, Pramstaller PP, Probst-Hensch N, Raitakari OT, Rettig R, Ridker PM, Rivadeneira F, Robino A, Rosas SE, Ruderfer D, Ruggiero D, Saba Y, Sala C, Schmidt H, Schmidt R, Scott RJ, Sedaghat S, Smith AV, Sorice R, Stengel B, Stracke S, Strauch K, Toniolo D, Uitterlinden AG, Ulivi S, Viikari JS, Völker U, Vollenweider P, Völzke H, Vuckovic D, Waldenberger M, Wang JJ, Yang Q, Chasman DI, Tromp G, Snieder H, Heid IM, Fox CS, Köttgen A, Pattaro C, Böger CA, and Fuchsberger C
Abstract: This corrects the article DOI: 10.1038/srep45040.
Published: 2017
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40. SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

Author: Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, Lyytikäinen LP, Nutile T, Sedaghat S, Sorice R, Tin A, Yang Q, Ahluwalia TS, Arking DE, Bihlmeyer NA, Böger CA, Carroll RJ, Chasman DI, Cornelis MC, Dehghan A, Faul JD, Feitosa MF, Gambaro G, Gasparini P, Giulianini F, Heid I, Huang J, Imboden M, Jackson AU, Jeff J, Jhun MA, Katz R, Kifley A, Kilpeläinen TO, Kumar A, Laakso M, Li-Gao R, Lohman K, Lu Y, Mägi R, Malerba G, Mihailov E, Mohlke KL, Mook-Kanamori DO, Robino A, Ruderfer D, Salvi E, Schick UM, Schulz CA, Smith AV, Smith JA, Traglia M, Yerges-Armstrong LM, Zhao W, Goodarzi MO, Kraja AT, Liu C, Wessel J, Boerwinkle E, Borecki IB, Bork-Jensen J, Bottinger EP, Braga D, Brandslund I, Brody JA, Campbell A, Carey DJ, Christensen C, Coresh J, Crook E, Curhan GC, Cusi D, de Boer IH, de Vries AP, Denny JC, Devuyst O, Dreisbach AW, Endlich K, Esko T, Franco OH, Fulop T, Gerhard GS, Glümer C, Gottesman O, Grarup N, Gudnason V, Hansen T, Harris TB, Hayward C, Hocking L, Hofman A, Hu FB, Husemoen LL, Jackson RD, Jørgensen T, Jørgensen ME, Kähönen M, Kardia SL, König W, Kooperberg C, Kriebel J, Launer LJ, Lauritzen T, Lehtimäki T, Levy D, Linksted P, Linneberg A, Liu Y, Loos RJ, Lupo A, Meisinger C, Melander O, Metspalu A, Mitchell P, Nauck M, Nürnberg P, Orho-Melander M, Parsa A, Pedersen O, Peters A, Peters U, Polasek O, Porteous D, Probst-Hensch NM, Psaty BM, Qi L, Raitakari OT, Reiner AP, Rettig R, Ridker PM, Rivadeneira F, Rossouw JE, Schmidt F, Siscovick D, Soranzo N, Strauch K, Toniolo D, Turner ST, Uitterlinden AG, Ulivi S, Velayutham D, Völker U, Völzke H, Waldenberger M, Wang JJ, Weir DR, Witte D, Kuivaniemi H, Fox CS, Franceschini N, Goessling W, Köttgen A, and Chu AY
Subjects: Animals, Genetic Loci, Genome-Wide Association Study, Humans, Zebrafish, Exome genetics, Glomerular Filtration Rate genetics, Kidney embryology, Protein Tyrosine Phosphatases genetics, Proto-Oncogene Proteins genetics, Son of Sevenless Proteins genetics
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 <3.7×10 -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., (Copyright © 2017 by the American Society of Nephrology.)
Published: 2017
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41. Genetic invalidation of Lp-PLA 2 as a therapeutic target: Large-scale study of five functional Lp-PLA 2 -lowering alleles.

Author: Gregson JM, Freitag DF, Surendran P, Stitziel NO, Chowdhury R, Burgess S, Kaptoge S, Gao P, Staley JR, Willeit P, Nielsen SF, Caslake M, Trompet S, Polfus LM, Kuulasmaa K, Kontto J, Perola M, Blankenberg S, Veronesi G, Gianfagna F, Männistö S, Kimura A, Lin H, Reilly DF, Gorski M, Mijatovic V, Munroe PB, Ehret GB, Thompson A, Uria-Nickelsen M, Malarstig A, Dehghan A, Vogt TF, Sasaoka T, Takeuchi F, Kato N, Yamada Y, Kee F, Müller-Nurasyid M, Ferrières J, Arveiler D, Amouyel P, Salomaa V, Boerwinkle E, Thompson SG, Ford I, Wouter Jukema J, Sattar N, Packard CJ, Shafi Majumder AA, Alam DS, Deloukas P, Schunkert H, Samani NJ, Kathiresan S, Nordestgaard BG, Saleheen D, Howson JM, Di Angelantonio E, Butterworth AS, and Danesh J
Subjects: 1-Alkyl-2-acetylglycerophosphocholine Esterase drug effects, 1-Alkyl-2-acetylglycerophosphocholine Esterase genetics, Adult, Aged, Alleles, Case-Control Studies, Coronary Disease diagnosis, Female, Gene Expression Regulation, Genotype, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Randomized Controlled Trials as Topic, Reference Values, Reproducibility of Results, Risk Assessment, Treatment Outcome, Benzaldehydes therapeutic use, Coronary Disease drug therapy, Coronary Disease genetics, Molecular Targeted Therapy, Oximes therapeutic use, Phospholipase A2 Inhibitors therapeutic use
Abstract: Aims Darapladib, a potent inhibitor of lipoprotein-associated phospholipase A 2 (Lp-PLA 2 ), has not reduced risk of cardiovascular disease outcomes in recent randomized trials. We aimed to test whether Lp-PLA 2 enzyme activity is causally relevant to coronary heart disease. Methods In 72,657 patients with coronary heart disease and 110,218 controls in 23 epidemiological studies, we genotyped five functional variants: four rare loss-of-function mutations (c.109+2T > C (rs142974898), Arg82His (rs144983904), Val279Phe (rs76863441), Gln287Ter (rs140020965)) and one common modest-impact variant (Val379Ala (rs1051931)) in PLA2G7, the gene encoding Lp-PLA 2 . We supplemented de-novo genotyping with information on a further 45,823 coronary heart disease patients and 88,680 controls in publicly available databases and other previous studies. We conducted a systematic review of randomized trials to compare effects of darapladib treatment on soluble Lp-PLA 2 activity, conventional cardiovascular risk factors, and coronary heart disease risk with corresponding effects of Lp-PLA 2 -lowering alleles. Results Lp-PLA 2 activity was decreased by 64% ( p = 2.4 × 10 -25 ) with carriage of any of the four loss-of-function variants, by 45% ( p < 10 -300 ) for every allele inherited at Val279Phe, and by 2.7% ( p = 1.9 × 10 -12 ) for every allele inherited at Val379Ala. Darapladib 160 mg once-daily reduced Lp-PLA 2 activity by 65% ( p < 10 -300 ). Causal risk ratios for coronary heart disease per 65% lower Lp-PLA 2 activity were: 0.95 (0.88-1.03) with Val279Phe; 0.92 (0.74-1.16) with carriage of any loss-of-function variant; 1.01 (0.68-1.51) with Val379Ala; and 0.95 (0.89-1.02) with darapladib treatment. Conclusions In a large-scale human genetic study, none of a series of Lp-PLA 2 -lowering alleles was related to coronary heart disease risk, suggesting that Lp-PLA 2 is unlikely to be a causal risk factor.
Published: 2017
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