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1. Glaucoma Patients Have a Lower Abundance of Butyrate-Producing Taxa in the Gut

Author: Vergroesen, Joëlle E, Jarrar, Zakariya A, Weiss, Stefan, Frost, Fabian, Ansari, Abdus S, Nguyen, Picard, Kraaij, Robert, Medina-Gomez, Carolina, Völzke, Henry, Tost, Frank, Amin, Najaf, van Duijn, Cornelia M, Klaver, Caroline C W, Jürgens, Clemens, Hammond, Chris J, Ramdas, Wishal D, Vergroesen, Joëlle E, Jarrar, Zakariya A, Weiss, Stefan, Frost, Fabian, Ansari, Abdus S, Nguyen, Picard, Kraaij, Robert, Medina-Gomez, Carolina, Völzke, Henry, Tost, Frank, Amin, Najaf, van Duijn, Cornelia M, Klaver, Caroline C W, Jürgens, Clemens, Hammond, Chris J, and Ramdas, Wishal D
Abstract: PURPOSE: Glaucoma is an eye disease that is the most common cause of irreversible blindness worldwide. It has been suggested that gut microbiota can produce reactive oxygen species and pro-inflammatory cytokines that may travel from the gastric mucosa to distal sites, for example, the optic nerve head or trabecular meshwork. There is evidence for a gut-eye axis, as microbial dysbiosis has been associated with retinal diseases. We investigated the microbial composition in patients with glaucoma and healthy controls. Moreover, we analyzed the association of the gut microbiome with intraocular pressure (IOP; risk factor of glaucoma) and vertical cup-to-disc ratio (VCDR; quantifying glaucoma severity).METHODS: The discovery analyses included participants of the Rotterdam Study and the Erasmus Glaucoma Cohort. A total of 225 patients with glaucoma and 1247 age- and sex-matched participants without glaucoma were included in our analyses. Stool samples were used to generate 16S rRNA gene profiles. We assessed associations with 233 genera and species. We used data from the TwinsUK and the Study of Health in Pomerania (SHIP) to replicate our findings.RESULTS: Several butyrate-producing taxa (e.g. Butyrivibrio, Caproiciproducens, Clostridium sensu stricto 1, Coprococcus 1, Ruminococcaceae UCG 007, and Shuttleworthia) were less abundant in people with glaucoma compared to healthy controls. The same taxa were also associated with lower IOP and smaller VCDR. The replication analyses confirmed the findings from the discovery analyses.CONCLUSIONS: Large human studies exploring the link between the gut microbiome and glaucoma are lacking. Our results suggest that microbial dysbiosis plays a role in the pathophysiology of glaucoma.
Published: 2024

2. Association analyses of rare variants identify two genes associated with refractive error

Author: Patasova, Karina, Haarman, Annechien E.G., Musolf, Anthony M., Mahroo, Omar A., Rahi, Jugnoo S., Falchi, Mario, Verhoeven, Virginie J.M., Bailey-Wilson, Joan E., Klaver, Caroline C.W., Duggal, Priya, Klein, Alison, Guggenheim, Jeremy A., Hammond, Chris J., Hysi, Pirro G., Patasova, Karina, Haarman, Annechien E.G., Musolf, Anthony M., Mahroo, Omar A., Rahi, Jugnoo S., Falchi, Mario, Verhoeven, Virginie J.M., Bailey-Wilson, Joan E., Klaver, Caroline C.W., Duggal, Priya, Klein, Alison, Guggenheim, Jeremy A., Hammond, Chris J., and Hysi, Pirro G.
Abstract: Purpose Genetic variants identified through population-based genome-wide studies are generally of high frequency, exerting their action in the central part of the refractive error spectrum. However, the power to identify associations with variants of lower minor allele frequency is greatly reduced, requiring considerable sample sizes. Here we aim to assess the impact of rare variants on genetic variation of refractive errors in a very large general population cohort. Methods Genetic association analyses of non-cyclopaedic autorefraction calculated as mean spherical equivalent (SPHE) used whole-exome sequence genotypic information from 50,893 unrelated participants in the UK Biobank of European ancestry. Gene-based analyses tested for association with SPHE using an optimised SNP-set kernel association test (SKAT-O) restricted to rare variants (minor allele frequency < 1%) within protein-coding regions of the genome. All models were adjusted for age, sex and common lead variants within the same locus reported by previous genome-wide association studies. Potentially causal markers driving association at significant loci were elucidated using sensitivity analyses by sequentially dropping the most associated variants from gene-based analyses. Results We found strong statistical evidence for association of SPHE with the SIX6 (p-value = 2.15 x 10-10, or Bonferroni-Corrected p = 4.41x10-06) and the CRX gene (p-value = 6.65 x 10-08, or Bonferroni-Corrected p = 0.001). The SIX6 gene codes for a transcription factor believed to be critical to the eye, retina and optic disc development and morphology, while CRX regulates photoreceptor specification and expression of over 700 genes in the retina. These novel associations suggest an important role of genes involved in eye morphogenesis in refractive error. Conclusion The results of our study support previous research highlighting the importance of rare variants to the genetic risk of refractive error. We explain some of the
Published: 2022

3. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Author: Gharahkhani, Puya, Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, Wiggs, Janey L, Gharahkhani, Puya, Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, and Wiggs, Janey L
Abstract: Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.
Published: 2021

4. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Author: Hardcastle, Alison J, Hardcastle, Alison J, Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J, Davidson, Alice E, Inglehearn, Chris F, Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne EM, Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E Rojas, Khawaja, Anthony P, Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart TH, Geerards, Annette JM, Haudum, Christoph W, Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J, Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S, Krauss, Ronald M, Theusch, Elisabeth, Charlesworth, Jac C, Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A, Richardson, Andrea J, Mitchell, Paul A, Taylor, Kent D, Melles, Ronald B, Aldave, Anthony J, Mills, Richard A, Cao, Ke, Chan, Elsie, Daniell, Mark D, Wang, Jie Jin, Rotter, Jerome I, Hewitt, Alex W, MacGregor, Stuart, Klaver, Caroline CW, Ramdas, Wishal D, Craig, Jamie E, Iyengar, Sudha K, O'Brart, David, Jorgenson, Eric, Baird, Paul N, Rabinowitz, Yaron S, Burdon, Kathryn P, Hammond, Chris J, Tuft, Stephen J, Hysi, Pirro G, Hardcastle, Alison J, Hardcastle, Alison J, Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J, Davidson, Alice E, Inglehearn, Chris F, Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne EM, Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E Rojas, Khawaja, Anthony P, Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart TH, Geerards, Annette JM, Haudum, Christoph W, Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J, Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S, Krauss, Ronald M, Theusch, Elisabeth, Charlesworth, Jac C, Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A, Richardson, Andrea J, Mitchell, Paul A, Taylor, Kent D, Melles, Ronald B, Aldave, Anthony J, Mills, Richard A, Cao, Ke, Chan, Elsie, Daniell, Mark D, Wang, Jie Jin, Rotter, Jerome I, Hewitt, Alex W, MacGregor, Stuart, Klaver, Caroline CW, Ramdas, Wishal D, Craig, Jamie E, Iyengar, Sudha K, O'Brart, David, Jorgenson, Eric, Baird, Paul N, Rabinowitz, Yaron S, Burdon, Kathryn P, Hammond, Chris J, Tuft, Stephen J, and Hysi, Pirro G
Abstract: Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endothelial corneal dystrophy. The common variants associated with keratoconus explain 12.5% of the genetic variance, which shows potential for the future development of a diagnostic test to detect susceptibility to disease.
Published: 2021

5. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Author: Gharahkhani, Puya, Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, Wiggs, Janey L, Gharahkhani, Puya, Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, and Wiggs, Janey L
Abstract: Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.
Published: 2021

6. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Author: Hardcastle, Alison J, Hardcastle, Alison J, Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J, Davidson, Alice E, Inglehearn, Chris F, Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne EM, Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E Rojas, Khawaja, Anthony P, Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart TH, Geerards, Annette JM, Haudum, Christoph W, Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J, Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S, Krauss, Ronald M, Theusch, Elisabeth, Charlesworth, Jac C, Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A, Richardson, Andrea J, Mitchell, Paul A, Taylor, Kent D, Melles, Ronald B, Aldave, Anthony J, Mills, Richard A, Cao, Ke, Chan, Elsie, Daniell, Mark D, Wang, Jie Jin, Rotter, Jerome I, Hewitt, Alex W, MacGregor, Stuart, Klaver, Caroline CW, Ramdas, Wishal D, Craig, Jamie E, Iyengar, Sudha K, O'Brart, David, Jorgenson, Eric, Baird, Paul N, Rabinowitz, Yaron S, Burdon, Kathryn P, Hammond, Chris J, Tuft, Stephen J, Hysi, Pirro G, Hardcastle, Alison J, Hardcastle, Alison J, Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J, Davidson, Alice E, Inglehearn, Chris F, Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne EM, Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E Rojas, Khawaja, Anthony P, Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart TH, Geerards, Annette JM, Haudum, Christoph W, Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J, Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S, Krauss, Ronald M, Theusch, Elisabeth, Charlesworth, Jac C, Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A, Richardson, Andrea J, Mitchell, Paul A, Taylor, Kent D, Melles, Ronald B, Aldave, Anthony J, Mills, Richard A, Cao, Ke, Chan, Elsie, Daniell, Mark D, Wang, Jie Jin, Rotter, Jerome I, Hewitt, Alex W, MacGregor, Stuart, Klaver, Caroline CW, Ramdas, Wishal D, Craig, Jamie E, Iyengar, Sudha K, O'Brart, David, Jorgenson, Eric, Baird, Paul N, Rabinowitz, Yaron S, Burdon, Kathryn P, Hammond, Chris J, Tuft, Stephen J, and Hysi, Pirro G
Abstract: Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endothelial corneal dystrophy. The common variants associated with keratoconus explain 12.5% of the genetic variance, which shows potential for the future development of a diagnostic test to detect susceptibility to disease.
Published: 2021

7. Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Author: Currant, Hannah, Hysi, Pirro, Fitzgerald, Tomas W., Gharahkhani, Puya, Bonnemaijer, Pieter W.M., Senabouth, Anne, Hewitt, Alex W., Atan, Denize, Aung, Tin, Charng, Jason, Choquet, Hélène, Craig, Jamie, Khaw, Peng T., Klaver, Caroline C.W., Kubo, Michiaki, Ong, Jue Sheng, Pasquale, Louis R., Reisman, Charles A., Daniszewski, Maciej, Powell, Joseph E., Pébay, Alice, Simcoe, Mark J., Thiadens, Alberta A.H.J., van Duijn, Cornelia M., Yazar, Seyhan, Jorgenson, Eric, MacGregor, Stuart, Hammond, Chris J., Mackey, David A., Wiggs, Janey L., Foster, Paul J., Patel, Praveen J., Birney, Ewan, Khawaja, Anthony P., Currant, Hannah, Hysi, Pirro, Fitzgerald, Tomas W., Gharahkhani, Puya, Bonnemaijer, Pieter W.M., Senabouth, Anne, Hewitt, Alex W., Atan, Denize, Aung, Tin, Charng, Jason, Choquet, Hélène, Craig, Jamie, Khaw, Peng T., Klaver, Caroline C.W., Kubo, Michiaki, Ong, Jue Sheng, Pasquale, Louis R., Reisman, Charles A., Daniszewski, Maciej, Powell, Joseph E., Pébay, Alice, Simcoe, Mark J., Thiadens, Alberta A.H.J., van Duijn, Cornelia M., Yazar, Seyhan, Jorgenson, Eric, MacGregor, Stuart, Hammond, Chris J., Mackey, David A., Wiggs, Janey L., Foster, Paul J., Patel, Praveen J., Birney, Ewan, and Khawaja, Anthony P.
Abstract: Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer. Only one of these loci has been associated with glaucoma, and despite its clear role as a biomarker for the disease, Mendelian randomisation does not support inner retinal thickness being on the same genetic causal pathway as glaucoma. We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were associated. We additionally associate these three loci with visual acuity. In contrast to the Mendelian causes of severe foveal hypoplasia, our results suggest a spectrum of foveal hypoplasia, in part genetically determined, with consequences on visual function.
Published: 2021

8. Ascorbic acid metabolites are involved in intraocular pressure control in the general population.

Author: Hysi, Pirro G, Hysi, Pirro G, Khawaja, Anthony P, Menni, Cristina, Tamraz, Bani, Wareham, Nick, Khaw, Kay-Tee, Foster, Paul J, Benet, Leslie Z, Spector, Tim D, Hammond, Chris J, Hysi, Pirro G, Hysi, Pirro G, Khawaja, Anthony P, Menni, Cristina, Tamraz, Bani, Wareham, Nick, Khaw, Kay-Tee, Foster, Paul J, Benet, Leslie Z, Spector, Tim D, and Hammond, Chris J
Abstract: Elevated intraocular pressure (IOP) is an important risk factor for glaucoma. Mechanisms involved in its homeostasis are not well understood, but associations between metabolic factors and IOP have been reported. To investigate the relationship between levels of circulating metabolites and IOP, we performed a metabolome-wide association using a machine learning algorithm, and then employing Mendelian Randomization models to further explore the strength and directionality of effect of the metabolites on IOP. We show that O-methylascorbate, a circulating Vitamin C metabolite, has a significant IOP-lowering effect, consistent with previous knowledge of the anti-hypertensive and anti-oxidative role of ascorbate compounds. These results enhance understanding of IOP control and may potentially benefit future IOP treatment and reduce vision loss from glaucoma.
Published: 2019

9. Ascorbic acid metabolites are involved in intraocular pressure control in the general population.

Author: Hysi, Pirro G, Hysi, Pirro G, Khawaja, Anthony P, Menni, Cristina, Tamraz, Bani, Wareham, Nick, Khaw, Kay-Tee, Foster, Paul J, Benet, Leslie Z, Spector, Tim D, Hammond, Chris J, Hysi, Pirro G, Hysi, Pirro G, Khawaja, Anthony P, Menni, Cristina, Tamraz, Bani, Wareham, Nick, Khaw, Kay-Tee, Foster, Paul J, Benet, Leslie Z, Spector, Tim D, and Hammond, Chris J
Abstract: Elevated intraocular pressure (IOP) is an important risk factor for glaucoma. Mechanisms involved in its homeostasis are not well understood, but associations between metabolic factors and IOP have been reported. To investigate the relationship between levels of circulating metabolites and IOP, we performed a metabolome-wide association using a machine learning algorithm, and then employing Mendelian Randomization models to further explore the strength and directionality of effect of the metabolites on IOP. We show that O-methylascorbate, a circulating Vitamin C metabolite, has a significant IOP-lowering effect, consistent with previous knowledge of the anti-hypertensive and anti-oxidative role of ascorbate compounds. These results enhance understanding of IOP control and may potentially benefit future IOP treatment and reduce vision loss from glaucoma.
Published: 2019

10. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, Tobin, Martin D, Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, and Tobin, Martin D
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Published: 2015
Full Text: View/download PDF

11. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, Tobin, Martin D, Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, and Tobin, Martin D
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Published: 2015
Full Text: View/download PDF

12. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, Tobin, Martin D, Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, and Tobin, Martin D
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Published: 2015
Full Text: View/download PDF

13. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., Tobin, Martin D., Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., and Tobin, Martin D.
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10−8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Published: 2015

14. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., Tobin, Martin D., Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., and Tobin, Martin D.
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10−8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Published: 2015

15. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, Tobin, Martin D, Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, and Tobin, Martin D
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Published: 2015
Full Text: View/download PDF

16. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, Tobin, Martin D, Soler Artigas, María, Wain, Louise V, Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E, Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L, Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K, Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M, Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G, Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R, Grallert, Harald, Hammond, Chris J, Harris, Sarah E, Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P, Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W, Navarro, Pau, Nickle, David C, Padmanabhan, Sandosh, Raitakari, Olli T, Ried, Janina S, Ripatti, Samuli, Schulz, Holger, Scott, Robert A, Sin, Don D, Starr, John M, Viñuela, Ana, Völzke, Henry, Wild, Sarah H, Wright, Alan F, Zemunik, Tatijana, Jarvis, Deborah L, Spector, Tim D, Evans, David M, Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Karrasch, Stefan, Probst-Hensch, Nicole M, Heinrich, Joachim, Stubbe, Beate, Wilson, James F, Wareham, Nicholas J, James, Alan L, Morris, Andrew P, Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P, Hall, Ian P, and Tobin, Martin D
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Published: 2015
Full Text: View/download PDF

17. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

Author: Simpson, Claire L, Simpson, Claire L, Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie JM, Vitart, Veronique, Schache, Maria, Hosseini, S Mohsen, Hysi, Pirro G, Raffel, Leslie J, Cotch, Mary Frances, Chew, Emily, Klein, Barbara EK, Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M, Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, DCCT/EDIC Research Group, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C, Vingerling, Johannes R, Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H-Erich, Wilson, James F, Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M, Rahi, Jugnoo S, Hammond, Chris J, Hayward, Caroline, Wright, Alan F, Paterson, Andrew D, Baird, Paul N, Klaver, Caroline CW, Rotter, Jerome I, Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E, Stambolian, Dwight, Simpson, Claire L, Simpson, Claire L, Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie JM, Vitart, Veronique, Schache, Maria, Hosseini, S Mohsen, Hysi, Pirro G, Raffel, Leslie J, Cotch, Mary Frances, Chew, Emily, Klein, Barbara EK, Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M, Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, DCCT/EDIC Research Group, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C, Vingerling, Johannes R, Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H-Erich, Wilson, James F, Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M, Rahi, Jugnoo S, Hammond, Chris J, Hayward, Caroline, Wright, Alan F, Paterson, Andrew D, Baird, Paul N, Klaver, Caroline CW, Rotter, Jerome I, Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E, and Stambolian, Dwight
Abstract: Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error acros
Published: 2014

18. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

Author: Simpson, Claire L, Miao, Xiaoping1, Simpson, Claire L, Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie JM, Vitart, Veronique, Schache, Maria, Hosseini, S Mohsen, Hysi, Pirro G, Raffel, Leslie J, Cotch, Mary Frances, Chew, Emily, Klein, Barbara EK, Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M, Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, DCCT/EDIC Research Group, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C, Vingerling, Johannes R, Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H-Erich, Wilson, James F, Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M, Rahi, Jugnoo S, Hammond, Chris J, Hayward, Caroline, Wright, Alan F, Paterson, Andrew D, Baird, Paul N, Klaver, Caroline CW, Rotter, Jerome I, Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E, Stambolian, Dwight, Simpson, Claire L, Miao, Xiaoping1, Simpson, Claire L, Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie JM, Vitart, Veronique, Schache, Maria, Hosseini, S Mohsen, Hysi, Pirro G, Raffel, Leslie J, Cotch, Mary Frances, Chew, Emily, Klein, Barbara EK, Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M, Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, DCCT/EDIC Research Group, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C, Vingerling, Johannes R, Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H-Erich, Wilson, James F, Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M, Rahi, Jugnoo S, Hammond, Chris J, Hayward, Caroline, Wright, Alan F, Paterson, Andrew D, Baird, Paul N, Klaver, Caroline CW, Rotter, Jerome I, Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E, and Stambolian, Dwight
Abstract: Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error acros
Published: 2014

19. Myopia : why study the mechanisms of myopia? Novel approaches to risk factors Signaling eye growth- how could basic biology be translated into clinical insights? Where are genetic and proteomic approaches leading? How does visual function contribute to an

Author: Tarutta, Elena, Chua, Wei-han, Young, Terri, Goldschmidt, Ernst, Saw, Seang-Mei, Rose, Kathryn A., Smith, Earl, Mutti, Donald O., Ashby, Regan, Stone, Richard A., Wildsoet, Christine, Howland, Howard C., Fischer, Andy J., Stell, William K., Reichenbach, Andreas, Frost, Michael, Gentle, Alex, Zhu, Xiaoying, Summers-Rada, Jody, Barathi, Veluchamy, Jiang, Liqin, McFadden, Sally, Guggenheim, Jeremy A., Hammond, Chris, Schippert, Ruth, To, Chi-Ho, Gwiazda, Jane, Marcos, Susana, Collins, Michael, Charman, W. Neil, Artal, Pablo, Tabernero, Juan, Atchison, David A., Seidemann, Anne, Uttenweiler, Dietmar, Troilo, David, Norton, Thomas T., Wallman, Josh, Tarutta, Elena, Chua, Wei-han, Young, Terri, Goldschmidt, Ernst, Saw, Seang-Mei, Rose, Kathryn A., Smith, Earl, Mutti, Donald O., Ashby, Regan, Stone, Richard A., Wildsoet, Christine, Howland, Howard C., Fischer, Andy J., Stell, William K., Reichenbach, Andreas, Frost, Michael, Gentle, Alex, Zhu, Xiaoying, Summers-Rada, Jody, Barathi, Veluchamy, Jiang, Liqin, McFadden, Sally, Guggenheim, Jeremy A., Hammond, Chris, Schippert, Ruth, To, Chi-Ho, Gwiazda, Jane, Marcos, Susana, Collins, Michael, Charman, W. Neil, Artal, Pablo, Tabernero, Juan, Atchison, David A., Seidemann, Anne, Uttenweiler, Dietmar, Troilo, David, Norton, Thomas T., and Wallman, Josh
Abstract: On July 26–29, 2010 the 13th International Myopia Conference was held in Tübingen, Germany and included 17 separate symposia, each with 3–5 presentations. Here, in a single paper, the chairs of those Symposia describe the scientific advances noted at the conference and include the full abstracts of the individual myopia papers presented in each symposium along with the authors and their institutions. The 17 Symposia covered 7 topics: Why Study the Mechanisms of Myopia?; Novel Approaches to Risk Factors; Signaling Eye Growth- How Could Basic Biology Be Translated into Clinical Insights?; Where Are Genetic and Proteomic Approaches Leading?; How Does Visual Function Contribute to and Interact with Ametropia?; Does Eye Shape Matter?; Why Ametropia at All?
Published: 2011

20. New gene functions in megakaryopoiesis and platelet formation

Author: Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Mägi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gögele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O’Reilly, Paul F., Shin, So-Youn, Esko, Tõnu, Hartiala, Jaana, Kanoni, Stavroula, Murgia, Federico, Parsa, Afshin, Stephens, Jonathan, van der Harst, Pim, Ellen van der Schoot, C., Allayee, Hooman, Attwood, Antony, Balkau, Beverley, Bastardot, François, Basu, Saonli, Baumeister, Sebastian E., Biino, Ginevra, Bomba, Lorenzo, Bonnefond, Amélie, Cambien, François, Chambers, John C., Cucca, Francesco, D’Adamo, Pio, Davies, Gail, de Boer, Rudolf A., de Geus, Eco J. C., Döring, Angela, Elliott, Paul, Erdmann, Jeanette, Evans, David M., Falchi, Mario, Feng, Wei, Folsom, Aaron R., Frazer, Ian H., Gibson, Quince D., Glazer, Nicole L., Hammond, Chris, Hartikainen, Anna-Liisa, Heckbert, Susan R., Hengstenberg, Christian, Hersch, Micha, Illig, Thomas, Loos, Ruth J. F., Jolley, Jennifer, Khaw, Kay-Tee, Kühnel, Brigitte, Kyrtsonis, Marie-Christine, Lagou, Vasiliki, Lloyd-Jones, Heather, Lumley, Thomas, Mangino, Massimo, Maschio, Andrea, Mateo Leach, Irene, McKnight, Barbara, Memari, Yasin, Mitchell, Braxton D., Montgomery, Grant W., Nakamura, Yusuke, Nauck, Matthias, Navis, Gerjan, Nöthlings, Ute, Nolte, Ilja M., Porteous, David J., Pouta, Anneli, Pramstaller, Peter P., Pullat, Janne, Ring, Susan M., Rotter, Jerome I., Ruggiero, Daniela, Ruokonen, Aimo, Sala, Cinzia, Samani, Nilesh J., Sambrook, Jennifer, Schlessinger, David, Schreiber, Stefan, Schunkert, Heribert, Scott, James, Smith, Nicholas L., Snieder, Harold, Starr, John M., Stumvoll, Michael, Takahashi, Atsushi, Wilson Tang, W. H., Taylor, Kent, Tenesa, Albert, Lay Thein, Swee, Tönjes, Anke, Uda, Manuela, Ulivi, Sheila, van Veldhuisen, Dirk J., Visscher, Peter M., Völker, Uwe, Wichmann, H.-Erich, Wiggins, Kerri L., Willemsen, Gonneke, Yang, Tsun-Po, Hua Zhao, Jing, Zitting, Paavo, Bradley, John R., Dedoussis, George V., Gasparini, Paolo, Hazen, Stanley L., Metspalu, Andres, Pirastu, Mario, Shuldiner, Alan R., Joost van Pelt, L., Zwaginga, Jaap-Jan, Boomsma, Dorret I., Deary, Ian J., Franke, Andre, Froguel, Philippe, Ganesh, Santhi K., Jarvelin, Marjo-Riitta, Martin, Nicholas G., Meisinger, Christa, Psaty, Bruce M., Spector, Timothy D., Wareham, Nicholas J., Akkerman, Jan-Willem N., Ciullo, Marina, Deloukas, Panos, Greinacher, Andreas, Jupe, Steve, Kamatani, Naoyuki, Khadake, Jyoti, Kooner, Jaspal S., Penninger, Josef, Prokopenko, Inga, Stemple, Derek, Toniolo, Daniela, Wernisch, Lorenz, Sanna, Serena, Hicks, Andrew A., Rendon, Augusto, Ferreira, Manuel A., Ouwehand, Willem H., Soranzo, Nicole, Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Mägi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gögele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O’Reilly, Paul F., Shin, So-Youn, Esko, Tõnu, Hartiala, Jaana, Kanoni, Stavroula, Murgia, Federico, Parsa, Afshin, Stephens, Jonathan, van der Harst, Pim, Ellen van der Schoot, C., Allayee, Hooman, Attwood, Antony, Balkau, Beverley, Bastardot, François, Basu, Saonli, Baumeister, Sebastian E., Biino, Ginevra, Bomba, Lorenzo, Bonnefond, Amélie, Cambien, François, Chambers, John C., Cucca, Francesco, D’Adamo, Pio, Davies, Gail, de Boer, Rudolf A., de Geus, Eco J. C., Döring, Angela, Elliott, Paul, Erdmann, Jeanette, Evans, David M., Falchi, Mario, Feng, Wei, Folsom, Aaron R., Frazer, Ian H., Gibson, Quince D., Glazer, Nicole L., Hammond, Chris, Hartikainen, Anna-Liisa, Heckbert, Susan R., Hengstenberg, Christian, Hersch, Micha, Illig, Thomas, Loos, Ruth J. F., Jolley, Jennifer, Khaw, Kay-Tee, Kühnel, Brigitte, Kyrtsonis, Marie-Christine, Lagou, Vasiliki, Lloyd-Jones, Heather, Lumley, Thomas, Mangino, Massimo, Maschio, Andrea, Mateo Leach, Irene, McKnight, Barbara, Memari, Yasin, Mitchell, Braxton D., Montgomery, Grant W., Nakamura, Yusuke, Nauck, Matthias, Navis, Gerjan, Nöthlings, Ute, Nolte, Ilja M., Porteous, David J., Pouta, Anneli, Pramstaller, Peter P., Pullat, Janne, Ring, Susan M., Rotter, Jerome I., Ruggiero, Daniela, Ruokonen, Aimo, Sala, Cinzia, Samani, Nilesh J., Sambrook, Jennifer, Schlessinger, David, Schreiber, Stefan, Schunkert, Heribert, Scott, James, Smith, Nicholas L., Snieder, Harold, Starr, John M., Stumvoll, Michael, Takahashi, Atsushi, Wilson Tang, W. H., Taylor, Kent, Tenesa, Albert, Lay Thein, Swee, Tönjes, Anke, Uda, Manuela, Ulivi, Sheila, van Veldhuisen, Dirk J., Visscher, Peter M., Völker, Uwe, Wichmann, H.-Erich, Wiggins, Kerri L., Willemsen, Gonneke, Yang, Tsun-Po, Hua Zhao, Jing, Zitting, Paavo, Bradley, John R., Dedoussis, George V., Gasparini, Paolo, Hazen, Stanley L., Metspalu, Andres, Pirastu, Mario, Shuldiner, Alan R., Joost van Pelt, L., Zwaginga, Jaap-Jan, Boomsma, Dorret I., Deary, Ian J., Franke, Andre, Froguel, Philippe, Ganesh, Santhi K., Jarvelin, Marjo-Riitta, Martin, Nicholas G., Meisinger, Christa, Psaty, Bruce M., Spector, Timothy D., Wareham, Nicholas J., Akkerman, Jan-Willem N., Ciullo, Marina, Deloukas, Panos, Greinacher, Andreas, Jupe, Steve, Kamatani, Naoyuki, Khadake, Jyoti, Kooner, Jaspal S., Penninger, Josef, Prokopenko, Inga, Stemple, Derek, Toniolo, Daniela, Wernisch, Lorenz, Sanna, Serena, Hicks, Andrew A., Rendon, Augusto, Ferreira, Manuel A., Ouwehand, Willem H., and Soranzo, Nicole
Abstract: Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function.
Published: 2011

21. New gene functions in megakaryopoiesis and platelet formation

Author: Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Mägi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gögele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O’Reilly, Paul F., Shin, So-Youn, Esko, Tõnu, Hartiala, Jaana, Kanoni, Stavroula, Murgia, Federico, Parsa, Afshin, Stephens, Jonathan, van der Harst, Pim, Ellen van der Schoot, C., Allayee, Hooman, Attwood, Antony, Balkau, Beverley, Bastardot, François, Basu, Saonli, Baumeister, Sebastian E., Biino, Ginevra, Bomba, Lorenzo, Bonnefond, Amélie, Cambien, François, Chambers, John C., Cucca, Francesco, D’Adamo, Pio, Davies, Gail, de Boer, Rudolf A., de Geus, Eco J. C., Döring, Angela, Elliott, Paul, Erdmann, Jeanette, Evans, David M., Falchi, Mario, Feng, Wei, Folsom, Aaron R., Frazer, Ian H., Gibson, Quince D., Glazer, Nicole L., Hammond, Chris, Hartikainen, Anna-Liisa, Heckbert, Susan R., Hengstenberg, Christian, Hersch, Micha, Illig, Thomas, Loos, Ruth J. F., Jolley, Jennifer, Khaw, Kay-Tee, Kühnel, Brigitte, Kyrtsonis, Marie-Christine, Lagou, Vasiliki, Lloyd-Jones, Heather, Lumley, Thomas, Mangino, Massimo, Maschio, Andrea, Mateo Leach, Irene, McKnight, Barbara, Memari, Yasin, Mitchell, Braxton D., Montgomery, Grant W., Nakamura, Yusuke, Nauck, Matthias, Navis, Gerjan, Nöthlings, Ute, Nolte, Ilja M., Porteous, David J., Pouta, Anneli, Pramstaller, Peter P., Pullat, Janne, Ring, Susan M., Rotter, Jerome I., Ruggiero, Daniela, Ruokonen, Aimo, Sala, Cinzia, Samani, Nilesh J., Sambrook, Jennifer, Schlessinger, David, Schreiber, Stefan, Schunkert, Heribert, Scott, James, Smith, Nicholas L., Snieder, Harold, Starr, John M., Stumvoll, Michael, Takahashi, Atsushi, Wilson Tang, W. H., Taylor, Kent, Tenesa, Albert, Lay Thein, Swee, Tönjes, Anke, Uda, Manuela, Ulivi, Sheila, van Veldhuisen, Dirk J., Visscher, Peter M., Völker, Uwe, Wichmann, H.-Erich, Wiggins, Kerri L., Willemsen, Gonneke, Yang, Tsun-Po, Hua Zhao, Jing, Zitting, Paavo, Bradley, John R., Dedoussis, George V., Gasparini, Paolo, Hazen, Stanley L., Metspalu, Andres, Pirastu, Mario, Shuldiner, Alan R., Joost van Pelt, L., Zwaginga, Jaap-Jan, Boomsma, Dorret I., Deary, Ian J., Franke, Andre, Froguel, Philippe, Ganesh, Santhi K., Jarvelin, Marjo-Riitta, Martin, Nicholas G., Meisinger, Christa, Psaty, Bruce M., Spector, Timothy D., Wareham, Nicholas J., Akkerman, Jan-Willem N., Ciullo, Marina, Deloukas, Panos, Greinacher, Andreas, Jupe, Steve, Kamatani, Naoyuki, Khadake, Jyoti, Kooner, Jaspal S., Penninger, Josef, Prokopenko, Inga, Stemple, Derek, Toniolo, Daniela, Wernisch, Lorenz, Sanna, Serena, Hicks, Andrew A., Rendon, Augusto, Ferreira, Manuel A., Ouwehand, Willem H., Soranzo, Nicole, Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Mägi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gögele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O’Reilly, Paul F., Shin, So-Youn, Esko, Tõnu, Hartiala, Jaana, Kanoni, Stavroula, Murgia, Federico, Parsa, Afshin, Stephens, Jonathan, van der Harst, Pim, Ellen van der Schoot, C., Allayee, Hooman, Attwood, Antony, Balkau, Beverley, Bastardot, François, Basu, Saonli, Baumeister, Sebastian E., Biino, Ginevra, Bomba, Lorenzo, Bonnefond, Amélie, Cambien, François, Chambers, John C., Cucca, Francesco, D’Adamo, Pio, Davies, Gail, de Boer, Rudolf A., de Geus, Eco J. C., Döring, Angela, Elliott, Paul, Erdmann, Jeanette, Evans, David M., Falchi, Mario, Feng, Wei, Folsom, Aaron R., Frazer, Ian H., Gibson, Quince D., Glazer, Nicole L., Hammond, Chris, Hartikainen, Anna-Liisa, Heckbert, Susan R., Hengstenberg, Christian, Hersch, Micha, Illig, Thomas, Loos, Ruth J. F., Jolley, Jennifer, Khaw, Kay-Tee, Kühnel, Brigitte, Kyrtsonis, Marie-Christine, Lagou, Vasiliki, Lloyd-Jones, Heather, Lumley, Thomas, Mangino, Massimo, Maschio, Andrea, Mateo Leach, Irene, McKnight, Barbara, Memari, Yasin, Mitchell, Braxton D., Montgomery, Grant W., Nakamura, Yusuke, Nauck, Matthias, Navis, Gerjan, Nöthlings, Ute, Nolte, Ilja M., Porteous, David J., Pouta, Anneli, Pramstaller, Peter P., Pullat, Janne, Ring, Susan M., Rotter, Jerome I., Ruggiero, Daniela, Ruokonen, Aimo, Sala, Cinzia, Samani, Nilesh J., Sambrook, Jennifer, Schlessinger, David, Schreiber, Stefan, Schunkert, Heribert, Scott, James, Smith, Nicholas L., Snieder, Harold, Starr, John M., Stumvoll, Michael, Takahashi, Atsushi, Wilson Tang, W. H., Taylor, Kent, Tenesa, Albert, Lay Thein, Swee, Tönjes, Anke, Uda, Manuela, Ulivi, Sheila, van Veldhuisen, Dirk J., Visscher, Peter M., Völker, Uwe, Wichmann, H.-Erich, Wiggins, Kerri L., Willemsen, Gonneke, Yang, Tsun-Po, Hua Zhao, Jing, Zitting, Paavo, Bradley, John R., Dedoussis, George V., Gasparini, Paolo, Hazen, Stanley L., Metspalu, Andres, Pirastu, Mario, Shuldiner, Alan R., Joost van Pelt, L., Zwaginga, Jaap-Jan, Boomsma, Dorret I., Deary, Ian J., Franke, Andre, Froguel, Philippe, Ganesh, Santhi K., Jarvelin, Marjo-Riitta, Martin, Nicholas G., Meisinger, Christa, Psaty, Bruce M., Spector, Timothy D., Wareham, Nicholas J., Akkerman, Jan-Willem N., Ciullo, Marina, Deloukas, Panos, Greinacher, Andreas, Jupe, Steve, Kamatani, Naoyuki, Khadake, Jyoti, Kooner, Jaspal S., Penninger, Josef, Prokopenko, Inga, Stemple, Derek, Toniolo, Daniela, Wernisch, Lorenz, Sanna, Serena, Hicks, Andrew A., Rendon, Augusto, Ferreira, Manuel A., Ouwehand, Willem H., and Soranzo, Nicole
Abstract: Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function.
Published: 2011

22. Myopia: Recent advances in molecular studies; Prevalence, progression and risk factors; Emmetropization; Therapies; Optical links; Peripheral refraction; Sclera and ocular growth; Signalling cascades; and animal models.

Author: McBrien, Neville A., Young, Terri L., Pang, Calvin P., Hammond, Chris, Baird, Paul, Saw, Seang-Mei, Morgan, Ian G., Mutti, Donald O., Rose, Kathryn A., Wallman, Josh, Gentle, Alex, Wildsoet, Christine F., Gwiazda, Jane, Schmid, Katrina L., Smith, Earl, Troilo, David, Summers-Rada, Jody, Norton, Thomas T., Schaeffel, Frank, Megaw, Pam, Beuerman, Roger W., McFadden, Sally A., McBrien, Neville A., Young, Terri L., Pang, Calvin P., Hammond, Chris, Baird, Paul, Saw, Seang-Mei, Morgan, Ian G., Mutti, Donald O., Rose, Kathryn A., Wallman, Josh, Gentle, Alex, Wildsoet, Christine F., Gwiazda, Jane, Schmid, Katrina L., Smith, Earl, Troilo, David, Summers-Rada, Jody, Norton, Thomas T., Schaeffel, Frank, Megaw, Pam, Beuerman, Roger W., and McFadden, Sally A.
Published: 2009

23. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., Tobin, Martin D., Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., and Tobin, Martin D.
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10−8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Full Text: View/download PDF

24. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., Tobin, Martin D., Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., and Tobin, Martin D.
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10−8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Full Text: View/download PDF

25. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., Tobin, Martin D., Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., and Tobin, Martin D.
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10−8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Full Text: View/download PDF

26. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., Tobin, Martin D., Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., and Tobin, Martin D.
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10−8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Full Text: View/download PDF

27. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Author: Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., Tobin, Martin D., Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., and Tobin, Martin D.
Abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10−8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
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27 results on '"Hammond, Chris"'

1. Glaucoma Patients Have a Lower Abundance of Butyrate-Producing Taxa in the Gut

2. Association analyses of rare variants identify two genes associated with refractive error

3. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

4. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

5. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

6. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

7. Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

8. Ascorbic acid metabolites are involved in intraocular pressure control in the general population.

9. Ascorbic acid metabolites are involved in intraocular pressure control in the general population.

10. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

11. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

12. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

13. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

14. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

15. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

16. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

17. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

18. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

19. Myopia : why study the mechanisms of myopia? Novel approaches to risk factors Signaling eye growth- how could basic biology be translated into clinical insights? Where are genetic and proteomic approaches leading? How does visual function contribute to an

20. New gene functions in megakaryopoiesis and platelet formation

21. New gene functions in megakaryopoiesis and platelet formation

22. Myopia: Recent advances in molecular studies; Prevalence, progression and risk factors; Emmetropization; Therapies; Optical links; Peripheral refraction; Sclera and ocular growth; Signalling cascades; and animal models.

23. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

24. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

25. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

26. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

27. Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

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27 results on '"Hammond, Chris"'

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