- Bonnelykke, Klaus, Matheson, Melanie, Pers, Tune, Granell, Raquel, Strachan, David, Couto Alves, Alexessander, Linneberg, Allan, Curtin, John, Warrington, Nicole, Standl, Marie, Kerkhof, Marjan, Jonsdottir, Ingileif, Bukvic, Blazenka, Kaakinen, Marika, Sleimann, Patrick, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Schramm, Katharina, Baltic, Svetlana, Kreiner-Moller, Eskil, Simpson, Angela, Pourcain, Beate, Coin, Lachlan, Hui, Jennie, Walters, Eugene, Tiesler, Carla, Duffy, David, Jones, Graham, Marks, Guy, Danoy, Patrick, Meszaros, Desiree, Hayden, Catherine, Henders, Anjali, Chapman, Brett, Kemp, Andrew, Cheah, Faang, Southey, Melissa, Roberts, Mary, Tovey, Euan, Giles, Graham, Chung, Li, Thomas, Paul, Feather, Ian, Temple, Suzanna, Beilby, John, Morrison, Stephen, Johns, David, Mitrpant, Chalermchai, Shelton, Brad, Jenkins, Mark, Britton, Warwick, Le Souef, Peter, Hopper, John, Leeder, Stephen, Musk, Bill, Martin, Nicholas, Brown, Matthew, Ring, Susan, McArdle, Wendy, Price, Loren, Robertson, Colin, Pekkanen, Juha, Tang, Clara, Thiering, Elisabeth, Montgomery, Grant, Hartikainen, Anna-Liisa, Dharmage, Shyamali, Husemoen, Lise, Herder, Christian, Kemp, John, Elliot, Paul, James, Alan, Waldenberger, Melanie, Abramson, Michael, Fairfax, Benjamin, Knight, Julian, Gupta, Ramneek, Thompson, Philip, Holt, Patrick, Sly, Peter, Hirschhorn, Joel, Blekic, Mario, Weidinger, Stephan, Hakonarsson, Hakon, Stefansson, Kari, Heinrich, Joachim, Postma, Dirkje, Custovic, Adnan, Pennell, Craig, Jarvelin, Marjo-Riitta, Koppelman, Gerard, Timpson, Nicholas, Ferreira, Manuel, Bisgaard, Hans, Henderson, A. John
- Authors: Bonnelykke, Klaus , Matheson, Melanie , Pers, Tune , Granell, Raquel , Strachan, David , Couto Alves, Alexessander , Linneberg, Allan , Curtin, John , Warrington, Nicole , Standl, Marie , Kerkhof, Marjan , Jonsdottir, Ingileif , Bukvic, Blazenka , Kaakinen, Marika , Sleimann, Patrick , Thorleifsson, Gudmar , Thorsteinsdottir, Unnur , Schramm, Katharina , Baltic, Svetlana , Kreiner-Moller, Eskil , Simpson, Angela , Pourcain, Beate , Coin, Lachlan , Hui, Jennie , Walters, Eugene , Tiesler, Carla , Duffy, David , Jones, Graham , Marks, Guy , Danoy, Patrick , Meszaros, Desiree , Hayden, Catherine , Henders, Anjali , Chapman, Brett , Kemp, Andrew , Cheah, Faang , Southey, Melissa , Roberts, Mary , Tovey, Euan , Giles, Graham , Chung, Li , Thomas, Paul , Feather, Ian , Temple, Suzanna , Beilby, John , Morrison, Stephen , Johns, David , Mitrpant, Chalermchai , Shelton, Brad , Jenkins, Mark , Britton, Warwick , Le Souef, Peter , Hopper, John , Leeder, Stephen , Musk, Bill , Martin, Nicholas , Brown, Matthew , Ring, Susan , McArdle, Wendy , Price, Loren , Robertson, Colin , Pekkanen, Juha , Tang, Clara , Thiering, Elisabeth , Montgomery, Grant , Hartikainen, Anna-Liisa , Dharmage, Shyamali , Husemoen, Lise , Herder, Christian , Kemp, John , Elliot, Paul , James, Alan , Waldenberger, Melanie , Abramson, Michael , Fairfax, Benjamin , Knight, Julian , Gupta, Ramneek , Thompson, Philip , Holt, Patrick , Sly, Peter , Hirschhorn, Joel , Blekic, Mario , Weidinger, Stephan , Hakonarsson, Hakon , Stefansson, Kari , Heinrich, Joachim , Postma, Dirkje , Custovic, Adnan , Pennell, Craig , Jarvelin, Marjo-Riitta , Koppelman, Gerard , Timpson, Nicholas , Ferreira, Manuel , Bisgaard, Hans , Henderson, A. John
- Date: 2013
- Type: Text , Journal article
- Relation: Nature Genetics Vol. 45, no. 8 (2013), p. 902-906
- Full Text: false
- Reviewed:
- Description: Allergen-specific immunoglobulin E (present in allergic sensitization) has a central role in the pathogenesis of allergic disease. We performed the first large-scale genome-wide association study (GWAS) of allergic sensitization in 5,789 affected individuals and 10,056 controls and followed up the top SNP at each of 26 loci in 6,114 affected individuals and 9,920 controls. We increased the number of susceptibility loci with genome-wide significant association with allergic sensitization from three to ten, including SNPs in or near TLR6, C11orf30, STAT6, SLC25A46, HLA-DQB1, IL1RL1, LPP, MYC, IL2 and HLA-B. All the top SNPs were associated with allergic symptoms in an independent study. Risk-associated variants at these ten loci were estimated to account for at least 25% of allergic sensitization and allergic rhinitis. Understanding the molecular mechanisms underlying these associations may provide new insights into the etiology of allergic disease.
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
- Morris, Andrew, Le, Thu, Wu, Haojia, Akbarov, Artur, van der Most, Peter, Hemani, Gibran, Smith, George, Mahajan, Anubha, Gaulton, Kyle, Nadkarni, Girish, Valladares-Salgado, Adan, Wacher-Rodarte, Niels, Mychaleckyj, Josyf, Dueker, Nicole, Guo, Xiuqing, Hai, Yang, Haessler, Jeffrey, Kamatani, Yoichiro, Stilp, Adrienne, Zhu, Gu, Cook, James, Arnlov, Johan, Blanton, Susan, de Borst, Martin, Bottinger, Erwin, Buchanan, Thomas, Cechova, Sylvia, Charchar, Fadi, Chu, Pei-Lun, Damman, Jeffrey, Eales, James, Gharavi, Ali, Giedraitis, Vilmantas, Heath, Andrew, Ipp, Eli, Kiryluk, Krzysztof, Kramer, Holly, Kubo, Michiaki, Larsson, Anders, Lindgren, Cecilia, Lu, Yingchang, Madden, Pamela, Montgomery, Grant, Papanicolaou, George, Raffel, Leslie, Sacco, Ralph, Sanchez, Elena, Stark, Holger, Sundstrom, Johan, Taylor, Kent, Xiang, Anny, Zivkovic, Aleksandra, Lind, Lars, Ingelsson, Erik, Martin, Nicholas, Whitfield, John, Cai, Jianwen, Laurie, Cathy, Okada, Yukinori, Matsuda, Koichi, Kooperberg, Charles, Chen, Yii-Der, Rundek, Tatjana, Rich, Stephen, Loos, Ruth, Parra, Esteban, Cruz, Miguel, Rotter, Jerome, Snieder, Harold, Tomaszewski, Maciej, Humphreys, Benjamin, Franceschini, Nora
- Authors: Morris, Andrew , Le, Thu , Wu, Haojia , Akbarov, Artur , van der Most, Peter , Hemani, Gibran , Smith, George , Mahajan, Anubha , Gaulton, Kyle , Nadkarni, Girish , Valladares-Salgado, Adan , Wacher-Rodarte, Niels , Mychaleckyj, Josyf , Dueker, Nicole , Guo, Xiuqing , Hai, Yang , Haessler, Jeffrey , Kamatani, Yoichiro , Stilp, Adrienne , Zhu, Gu , Cook, James , Arnlov, Johan , Blanton, Susan , de Borst, Martin , Bottinger, Erwin , Buchanan, Thomas , Cechova, Sylvia , Charchar, Fadi , Chu, Pei-Lun , Damman, Jeffrey , Eales, James , Gharavi, Ali , Giedraitis, Vilmantas , Heath, Andrew , Ipp, Eli , Kiryluk, Krzysztof , Kramer, Holly , Kubo, Michiaki , Larsson, Anders , Lindgren, Cecilia , Lu, Yingchang , Madden, Pamela , Montgomery, Grant , Papanicolaou, George , Raffel, Leslie , Sacco, Ralph , Sanchez, Elena , Stark, Holger , Sundstrom, Johan , Taylor, Kent , Xiang, Anny , Zivkovic, Aleksandra , Lind, Lars , Ingelsson, Erik , Martin, Nicholas , Whitfield, John , Cai, Jianwen , Laurie, Cathy , Okada, Yukinori , Matsuda, Koichi , Kooperberg, Charles , Chen, Yii-Der , Rundek, Tatjana , Rich, Stephen , Loos, Ruth , Parra, Esteban , Cruz, Miguel , Rotter, Jerome , Snieder, Harold , Tomaszewski, Maciej , Humphreys, Benjamin , Franceschini, Nora
- Date: 2019
- Type: Text , Journal article
- Relation: Nature Communications Vol. 10, no. 1 (2019), p. 1-14
- Full Text:
- Reviewed:
- Description: Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD, kidney stone formation, diastolic blood pressure and hypertension. These results define novel molecular mechanisms and putative causal genes for eGFR, offering insight into clinical outcomes and routes to CKD treatment development.
- Authors: Morris, Andrew , Le, Thu , Wu, Haojia , Akbarov, Artur , van der Most, Peter , Hemani, Gibran , Smith, George , Mahajan, Anubha , Gaulton, Kyle , Nadkarni, Girish , Valladares-Salgado, Adan , Wacher-Rodarte, Niels , Mychaleckyj, Josyf , Dueker, Nicole , Guo, Xiuqing , Hai, Yang , Haessler, Jeffrey , Kamatani, Yoichiro , Stilp, Adrienne , Zhu, Gu , Cook, James , Arnlov, Johan , Blanton, Susan , de Borst, Martin , Bottinger, Erwin , Buchanan, Thomas , Cechova, Sylvia , Charchar, Fadi , Chu, Pei-Lun , Damman, Jeffrey , Eales, James , Gharavi, Ali , Giedraitis, Vilmantas , Heath, Andrew , Ipp, Eli , Kiryluk, Krzysztof , Kramer, Holly , Kubo, Michiaki , Larsson, Anders , Lindgren, Cecilia , Lu, Yingchang , Madden, Pamela , Montgomery, Grant , Papanicolaou, George , Raffel, Leslie , Sacco, Ralph , Sanchez, Elena , Stark, Holger , Sundstrom, Johan , Taylor, Kent , Xiang, Anny , Zivkovic, Aleksandra , Lind, Lars , Ingelsson, Erik , Martin, Nicholas , Whitfield, John , Cai, Jianwen , Laurie, Cathy , Okada, Yukinori , Matsuda, Koichi , Kooperberg, Charles , Chen, Yii-Der , Rundek, Tatjana , Rich, Stephen , Loos, Ruth , Parra, Esteban , Cruz, Miguel , Rotter, Jerome , Snieder, Harold , Tomaszewski, Maciej , Humphreys, Benjamin , Franceschini, Nora
- Date: 2019
- Type: Text , Journal article
- Relation: Nature Communications Vol. 10, no. 1 (2019), p. 1-14
- Full Text:
- Reviewed:
- Description: Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD, kidney stone formation, diastolic blood pressure and hypertension. These results define novel molecular mechanisms and putative causal genes for eGFR, offering insight into clinical outcomes and routes to CKD treatment development.
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