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13 results on '"Iglesias Gonzalez, Adriana"'

2. Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

Author

Iglesias Gonzalez, Adriana, Ong, JS, Khawaja, AP, Gharahkhani, P, Tedja, Milly, Verhoeven, Virginie, Bonnemaijer, Pieter, Wolfs, R.C.W., Young, TL, Jansonius, NM, Craig, JE, Stambolian, D, Duijn, Cornelia, Macgregor, S, Klaver, Caroline, Iglesias Gonzalez, Adriana, Ong, JS, Khawaja, AP, Gharahkhani, P, Tedja, Milly, Verhoeven, Virginie, Bonnemaijer, Pieter, Wolfs, R.C.W., Young, TL, Jansonius, NM, Craig, JE, Stambolian, D, Duijn, Cornelia, Macgregor, S, and Klaver, Caroline

Published
2019

4. Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

Author

Bonnemaijer, Pieter, Iglesias Gonzalez, Adriana, Nadkarni, GN, Sanyiwa, AJ, Hassan, HG, Cook, C, Simcoe, M, Taylor, KD, Schurmann, C, Belbin, GM, Kenny, EE, Bottinger, EP, van de Laar, S, Wiliams, SEI, Akafo, SK, Ashaye, AO, Zangwill, LM, Girkin, CA, Ng, MCY, Rotter, JI, Weinreb, RN, Li, Z, Allingham, RR, Nag, A, Hysi, PG, Meester - Smoor, Magda, Wiggs, JL, Hauser, MA, Hammond, CJ, Lemij, HG, Loos, RJF, Duijn, Cornelia, Thiadens, Alberta, Klaver, Caroline, Bonnemaijer, Pieter, Iglesias Gonzalez, Adriana, Nadkarni, GN, Sanyiwa, AJ, Hassan, HG, Cook, C, Simcoe, M, Taylor, KD, Schurmann, C, Belbin, GM, Kenny, EE, Bottinger, EP, van de Laar, S, Wiliams, SEI, Akafo, SK, Ashaye, AO, Zangwill, LM, Girkin, CA, Ng, MCY, Rotter, JI, Weinreb, RN, Li, Z, Allingham, RR, Nag, A, Hysi, PG, Meester - Smoor, Magda, Wiggs, JL, Hauser, MA, Hammond, CJ, Lemij, HG, Loos, RJF, Duijn, Cornelia, Thiadens, Alberta, and Klaver, Caroline

Published
2018

5. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Author

Iglesias Gonzalez, Adriana, Mishra, A, Vitart, V, Bykhovskaya, Y, Hohn, R, Springelkamp, Henriët, Cuellar-Partida, G, Gharahkhani, P, Bailey, JNC, Willoughby, CE, Li, XH, Yazar, S, Nag, A, Khawaja, AP, Polasek, O, Siscovick, D, Mitchell, P, Tham, YC, Haines, JL, Kearns, LS, Hayward, C, Shi, Y, Leeuwen, Elisa, Taylor, KD, Bonnemaijer, Pieter, Rotter, JI, Martin, NG, Zeller, T, Mills, RA, Staffieri, SE, Jonas, JB, Schmidtmann, I, Boutin, T, Kang, JH, Lucas, SEM, Wong, TY, Beutel, ME, Wilson, JF, Uitterlinden, André, Vithana, EN, Foster, PJ, Hysi, PG, Hewitt, AW, Khor, CC, Pasquale, LR, Montgomery, GW, Klaver, Caroline, Aung, T, Pfeiffer, N, Mackey, DA, Hammond, CJ, Cheng, CY (Ching-Yu), Craig, JE, Rabinowitz, YS, Wiggs, JL, Burdon, KP, Duijn, Cornelia, Macgregor, S, Iglesias Gonzalez, Adriana, Mishra, A, Vitart, V, Bykhovskaya, Y, Hohn, R, Springelkamp, Henriët, Cuellar-Partida, G, Gharahkhani, P, Bailey, JNC, Willoughby, CE, Li, XH, Yazar, S, Nag, A, Khawaja, AP, Polasek, O, Siscovick, D, Mitchell, P, Tham, YC, Haines, JL, Kearns, LS, Hayward, C, Shi, Y, Leeuwen, Elisa, Taylor, KD, Bonnemaijer, Pieter, Rotter, JI, Martin, NG, Zeller, T, Mills, RA, Staffieri, SE, Jonas, JB, Schmidtmann, I, Boutin, T, Kang, JH, Lucas, SEM, Wong, TY, Beutel, ME, Wilson, JF, Uitterlinden, André, Vithana, EN, Foster, PJ, Hysi, PG, Hewitt, AW, Khor, CC, Pasquale, LR, Montgomery, GW, Klaver, Caroline, Aung, T, Pfeiffer, N, Mackey, DA, Hammond, CJ, Cheng, CY (Ching-Yu), Craig, JE, Rabinowitz, YS, Wiggs, JL, Burdon, KP, Duijn, Cornelia, and Macgregor, S

Published
2018

6. A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy

Author

Silva Aldana, Claudia, Zorkoltseva, IV, Niemeijer, Marieke, van den Berg, Marten, Amin, Najaf, Demirkan, Ayse, Leeuwen, Elisa, Iglesias Gonzalez, Adriana, Pineros-Hernandez, LB, Restrepo, CM, Kors, Jan, Kirichenko, AV, Willemsen, Rob, Oostra, Ben, Stricker, Bruno, Uitterlinden, André, Axenovich, TI, Duijn, Cornelia, Isaacs, Aaron, Silva Aldana, Claudia, Zorkoltseva, IV, Niemeijer, Marieke, van den Berg, Marten, Amin, Najaf, Demirkan, Ayse, Leeuwen, Elisa, Iglesias Gonzalez, Adriana, Pineros-Hernandez, LB, Restrepo, CM, Kors, Jan, Kirichenko, AV, Willemsen, Rob, Oostra, Ben, Stricker, Bruno, Uitterlinden, André, Axenovich, TI, Duijn, Cornelia, and Isaacs, Aaron

Published
2018

8. Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

Author

Chintalapudi, Sumana R., Maria, Doaa, Di Wang, Xiang, Bailey, Jessica N.Cooke, Allingham, Rand, Brilliant, Murray, Budenz, Don, Fingert, John, Gaasterland, Douglas, Gaasterland, Teresa, Haines, Jonathan L., Hark, Lisa, Hauser, Michael, Igo, Rob, Hee Kang, Jae, Kraft, Peter, Lee, Richard, Lichter, Paul, Liu, Yutao, Moroi, Syoko, Pasquale, Louis R., Pericak-Vance, Margaret, Realini, Anthony, Rhee, Doug, Richards, Julia R., Ritch, Robert, Schuman, Joel, Scott, William K., Singh, Kuldev, Sit, Arthur, Vollrath, Douglas, Wollstein, Gadi, Zack, Don, Aung, Tin, Bonnemaijer, Peter, Cheng, Cheng Yu, Craig, Jamie, Van Duijn, Cornelia, Gharahkhani, Puya, Iglesias Gonzalez, Adriana, Hammond, Christopher J., Hewitt, Alex, Hoehn, Rene, Jonansson, Fridbert, Khawaja, Anthony, Chuen Khor, Chiea, Klaver, Caroline C.W., Lotery, Andrew, MacKey, David, MacGregor, Stuart, Chintalapudi, Sumana R., Maria, Doaa, Di Wang, Xiang, Bailey, Jessica N.Cooke, Allingham, Rand, Brilliant, Murray, Budenz, Don, Fingert, John, Gaasterland, Douglas, Gaasterland, Teresa, Haines, Jonathan L., Hark, Lisa, Hauser, Michael, Igo, Rob, Hee Kang, Jae, Kraft, Peter, Lee, Richard, Lichter, Paul, Liu, Yutao, Moroi, Syoko, Pasquale, Louis R., Pericak-Vance, Margaret, Realini, Anthony, Rhee, Doug, Richards, Julia R., Ritch, Robert, Schuman, Joel, Scott, William K., Singh, Kuldev, Sit, Arthur, Vollrath, Douglas, Wollstein, Gadi, Zack, Don, Aung, Tin, Bonnemaijer, Peter, Cheng, Cheng Yu, Craig, Jamie, Van Duijn, Cornelia, Gharahkhani, Puya, Iglesias Gonzalez, Adriana, Hammond, Christopher J., Hewitt, Alex, Hoehn, Rene, Jonansson, Fridbert, Khawaja, Anthony, Chuen Khor, Chiea, Klaver, Caroline C.W., Lotery, Andrew, MacKey, David, and MacGregor, Stuart

Abstract

Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor for primary open angle glaucoma and currently the only target for glaucoma therapy. Our study helps to better understand underlying genetic and molecular mechanisms that regulate intraocular pressure, and identifies a new candidate gene, Cacna2d1, that modulates intraocular pressure and a promising therapeutic, pregabalin, which binds to CACNA2D1 protein and lowers intraocular pressure significantly. Because our study utilizes a genetically diverse population of mice with known sequence variants, we are able to determine that the intraocular pressure-lowering effect of pregabalin is dependent on the Cacna2d1 haplotype. Using human genome-wide association study (GWAS) data, evidence for association of a CACNA2D1 single-nucleotide polymorphism and primary open angle glaucoma is found. Importantly, these results demonstrate that our systems genetics approach represents an efficient method to identify genetic variation that can guide the selection of therapeutic targets.

Published
2017

9. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

Author

Springelkamp, Henriët, Iglesias Gonzalez, Adriana, Mishra, A, Hohn, R, Wojciechowski, R, Khawaja, AP, Nag, A, Wang, YX, Wang, JJ, Cuellar-Partida, G, Gibson, J, Bailey, JNC, Vithana, EN, Gharahkhani, P, Boutin, T, Ramdas, Wishal, Zeller, T, Luben, RN, Yonova-Doing, E, Viswanathan, AC, Yazar, S, Cree, AJ, Haines, JL, Koh, JY, Souzeau, E, Wilson, JF, Amin, Najaf, Muller, C, Venturini, C, Kearns, LS, Kang, JH, Tham, YC, Zhou, T, van Leeuwen, EM, Nickels, S, Sanfilippo, P, Liao, JM, van der Linde, HC, Zhao, WT, Koolwijk, Leonieke, Zheng, L, Rivadeneira, Fernando, Baskaran, M, van der Lee, Sven, Perera, S, Jong, P, Oostra, Ben, Uitterlinden, André, Fan, Q, Hofman, Bert, Tai, ES, Vingerling, Hans, Sim, XL, Wolfs, R.C.W., Teo, YY, Lemij, HG, Khor, CC, Willemsen, Rob, Lackner, KJ, Aung, T, Jansonius, NM, Montgomery, G, Wild, PS, Young, TL, Burdon, KP, Hysi, PG, Pasquale, LR, Wong, TY, Klaver, Caroline, Hewitt, AW, Jonas, JB, Mitchell, P, Lotery, AJ, Foster, PJ, Vitart, V, Pfeiffer, N, Craig, JE, Mackey, DA, Hammond, CJ, Wiggs, JL, Cheng, CY (Ching-Yu), Duijn, Cornelia, Macgregor, S, Springelkamp, Henriët, Iglesias Gonzalez, Adriana, Mishra, A, Hohn, R, Wojciechowski, R, Khawaja, AP, Nag, A, Wang, YX, Wang, JJ, Cuellar-Partida, G, Gibson, J, Bailey, JNC, Vithana, EN, Gharahkhani, P, Boutin, T, Ramdas, Wishal, Zeller, T, Luben, RN, Yonova-Doing, E, Viswanathan, AC, Yazar, S, Cree, AJ, Haines, JL, Koh, JY, Souzeau, E, Wilson, JF, Amin, Najaf, Muller, C, Venturini, C, Kearns, LS, Kang, JH, Tham, YC, Zhou, T, van Leeuwen, EM, Nickels, S, Sanfilippo, P, Liao, JM, van der Linde, HC, Zhao, WT, Koolwijk, Leonieke, Zheng, L, Rivadeneira, Fernando, Baskaran, M, van der Lee, Sven, Perera, S, Jong, P, Oostra, Ben, Uitterlinden, André, Fan, Q, Hofman, Bert, Tai, ES, Vingerling, Hans, Sim, XL, Wolfs, R.C.W., Teo, YY, Lemij, HG, Khor, CC, Willemsen, Rob, Lackner, KJ, Aung, T, Jansonius, NM, Montgomery, G, Wild, PS, Young, TL, Burdon, KP, Hysi, PG, Pasquale, LR, Wong, TY, Klaver, Caroline, Hewitt, AW, Jonas, JB, Mitchell, P, Lotery, AJ, Foster, PJ, Vitart, V, Pfeiffer, N, Craig, JE, Mackey, DA, Hammond, CJ, Wiggs, JL, Cheng, CY (Ching-Yu), Duijn, Cornelia, and Macgregor, S

Published
2017

11. Haplotype reference consortium panel: Practical implications of imputations with large reference panels

Author

Iglesias Gonzalez, Adriana, van der Lee, Sven, Bonnemaijer, Pieter, Hohn, R, Nag, A, Gharahkhani, P, Khawaja, AP, Broer, Linda, Foster, PJ, Hammond, CJ, Hysi, PG, Leeuwen, Elisa, Macgregor, S, Mackey, DA, Mazur, J, Nickels, S, Uitterlinden, André, Klaver, Caroline, Amin, Najaf, Duijn, Cornelia, Iggc, Iglesias Gonzalez, Adriana, van der Lee, Sven, Bonnemaijer, Pieter, Hohn, R, Nag, A, Gharahkhani, P, Khawaja, AP, Broer, Linda, Foster, PJ, Hammond, CJ, Hysi, PG, Leeuwen, Elisa, Macgregor, S, Mackey, DA, Mazur, J, Nickels, S, Uitterlinden, André, Klaver, Caroline, Amin, Najaf, Duijn, Cornelia, and Iggc

Published
2017

12. Associations with intraocular pressure across Europe: The European Eye Epidemiology (E-3) Consortium

Author

Khawaja, AP, Springelkamp, Henriët, Creuzot-Garcher, C, Delcourt, C, Hofman, Bert, Hohn, R, Iglesias Gonzalez, Adriana, Wolfs, R.C.W., Korobelnik, JF, de Silva, R, Topouzis, F, Williams, KM, Bron, AM, Buitendijk, Gabriëlle, Cachulo, MD, Cougnard-Gregoire, A, Dartigues, JF, Hammond, CJ, Pfeiffer, N, Salonikiou, A, Duijn, Cornelia, Vingerling, Hans, Luben, RN, Mirshahi, A, Lamparter, J, Klaver, Caroline, Jansonius, NM (Nomdo), Foster, PJ, Khawaja, AP, Springelkamp, Henriët, Creuzot-Garcher, C, Delcourt, C, Hofman, Bert, Hohn, R, Iglesias Gonzalez, Adriana, Wolfs, R.C.W., Korobelnik, JF, de Silva, R, Topouzis, F, Williams, KM, Bron, AM, Buitendijk, Gabriëlle, Cachulo, MD, Cougnard-Gregoire, A, Dartigues, JF, Hammond, CJ, Pfeiffer, N, Salonikiou, A, Duijn, Cornelia, Vingerling, Hans, Luben, RN, Mirshahi, A, Lamparter, J, Klaver, Caroline, Jansonius, NM (Nomdo), and Foster, PJ

Abstract

Raised intraocular pressure (IOP) is the most important risk factor for developing glaucoma, the second commonest cause of blindness globally. Understanding associations with IOP and variations in IOP between countries may teach us about mechanisms underlying glaucoma. We examined cross-sectional associations with IOP in 43,500 European adults from 12 cohort studies belonging to the European Eye Epidemiology (E-3) consortium. Each study conducted multivariable linear regression with IOP as the outcome variable and results were pooled using random effects meta-analysis. The association of standardized study IOP with latitude was tested using meta-regression. Higher IOP was observed in men (0.18 mmHg; 95 % CI 0.06, 0.31; P = 0.004) and with higher body mass index (0.21 mmHg per 5 kg/m(2); 95 % CI 0.14, 0.28; P < 0.001), shorter height (-0.17 mmHg per 10 cm; 95 % CI -0.25, -0.08; P < 0.001), higher systolic blood pressure (0.17 mmHg per 10 mmHg; 95 % CI 0.12, 0.22; P < 0.001) and more myopic refraction (0.06 mmHg per Dioptre; 95 % CI 0.03, 0.09; P < 0.001). An inverted U-shaped trend was observed between age and IOP, with IOP increasing up to the age of 60 and decreasing in participants older than 70 years. We found no significant association between standardized IOP and study location latitude (P = 0.76). Novel findings of our study include the association of lower IOP in taller people and an inverted-U shaped association of IOP with age. We found no evidence of significant variation in IOP across Europe. Despite the limited range of latitude amongst included studies, this finding is in favour of collaborative pooling of data from studies examining environmental and genetic determinants of IOP in Europeans.

Published
2016

13. ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

Author

Springelkamp, Henriët, Iglesias Gonzalez, Adriana, Cuellar-Partida, G, Amin, Najaf, Burdon, KP, Leeuwen, Elisa, Gharahkhani, P, Mishra, A, van der Lee, Sven, Hewitt, AW, Rivadeneira, Fernando, Viswanathan, AC, Wolfs, R.C.W., Martin, NG, Ramdas, Wishal, van Koolwijk, LM, Pennell, CE, Vingerling, Hans, Mountain, JE, Uitterlinden, André, Hofman, Bert, Mitchell, P, Lemij, HG, Wang, JJ, Klaver, Caroline, Mackey, DA, Craig, JE, Duijn, Cornelia, Macgregor, S, Springelkamp, Henriët, Iglesias Gonzalez, Adriana, Cuellar-Partida, G, Amin, Najaf, Burdon, KP, Leeuwen, Elisa, Gharahkhani, P, Mishra, A, van der Lee, Sven, Hewitt, AW, Rivadeneira, Fernando, Viswanathan, AC, Wolfs, R.C.W., Martin, NG, Ramdas, Wishal, van Koolwijk, LM, Pennell, CE, Vingerling, Hans, Mountain, JE, Uitterlinden, André, Hofman, Bert, Mitchell, P, Lemij, HG, Wang, JJ, Klaver, Caroline, Mackey, DA, Craig, JE, Duijn, Cornelia, and Macgregor, S

Abstract

Primary open-angle glaucoma (POAG) is a blinding disease. Two important risk factors for this disease are a positive family history and elevated intraocular pressure (IOP), which is also highly heritable. Genes found to date associated with IOP and POAG are ABCA1, CAV1/CAV2, GAS7 and TMCO1. However, these genes explain only a small part of the heritability of IOP and POAG. We performed a genome-wide association study of IOP in the population-based Rotterdam Study I and Rotterdam Study II using single nucleotide polymorphisms (SNPs) imputed to 1000 Genomes. In this discovery cohort (n = 8105), we identified a new locus associated with IOP. The most significantly associated SNP was rs58073046 (beta = 0.44, P-value = 1.87 x 10(-8), minor allele frequency = 0.12), within the gene ARHGEF12. Independent replication in five population-based studies (n = 7471) resulted in an effect size in the same direction that was significantly associated (beta = 0.16, P-value = 0.04). The SNP was also significantly associated with POAG in two independent case-control studies [n = 1225 cases and n = 4117 controls; odds ratio (OR) = 1.53, P-value = 1.99 x 10(-)8], especially with high-tension glaucoma (OR = 1.66, P-value = 2.81 x 10(-9); for normal-tension glaucoma OR = 1.29, P-value = 4.23 x 10(-2)). ARHGEF12 plays an important role in the RhoA/RhoA kinase pathway, which has been implicated in IOP regulation. Furthermore, it binds to ABCA1 and links the ABCA1, CAV1/CAV2 and GAS7 pathway to Mendelian POAG genes (MYOC, OPTN, WDR36). In conclusion, this study identified a novel association between IOP and ARHGEF12.

Published
2015

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