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2. Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

Author

Li, Xiaohui, Owen, Leah A, Taylor, Kent D, Ostmo, Susan, Chen, Yii-Der Ida, Coyner, Aaron S, Sonmez, Kemal, Hartnett, M Elizabeth, Guo, Xiuqing, Ipp, Eli, Roll, Kathryn, Genter, Pauline, Chan, RV Paul, DeAngelis, Margaret M, Chiang, Michael F, Campbell, J Peter, and Rotter, Jerome I

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Ophthalmology and Optometry, Human Genome, Biotechnology, Eye Disease and Disorders of Vision, Perinatal Period - Conditions Originating in Perinatal Period, Prevention, Pediatric, Rare Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Eye, Infant, Newborn, Humans, Genome-Wide Association Study, Retinopathy of Prematurity, Ethnicity, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, i-ROP Consortium, Biological sciences, Biomedical and clinical sciences
Abstract

We conducted a genome-wide association study (GWAS) in a multiethnic cohort of 920 at-risk infants for retinopathy of prematurity (ROP), a major cause of childhood blindness, identifying 1 locus at genome-wide significance level (p

Published
2024

5. Genetic predictors of severe intraventricular hemorrhage in extremely low-birthweight infants

Author

Thornburg, Courtney D, Erickson, Stephen W, Page, Grier P, Clark, Erin AS, DeAngelis, Margaret M, Hartnett, M Elizabeth, Goldstein, Ricki F, Dagle, John M, Murray, Jeffrey C, Poindexter, Brenda B, Das, Abhik, and Cotten, C Michael

Subjects
Paediatrics, Biomedical and Clinical Sciences, Stroke, Neurosciences, Brain Disorders, Preterm, Low Birth Weight and Health of the Newborn, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, Lung, Genetics, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Birth Weight, Cerebral Hemorrhage, Child, Humans, Infant, Infant, Extremely Low Birth Weight, Infant, Newborn, Infant, Premature, Infant, Premature, Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network, Clinical Sciences, Paediatrics and Reproductive Medicine, Pediatrics
Abstract

ObjectiveTo test associations between grades 3 or 4 (severe) intraventricular hemorrhage (IVH) and single nucleotide polymorphisms (SNPs) associated with coagulation, inflammation, angiogenesis, and organ development in an exploratory study.Study designExtremely low-birthweight (ELBW) infants enrolled in the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network's (NRN) Cytokines Study were included if they had cranial ultrasound (CUS) and genotyping data available in the NRN Anonymized DNA Repository and Database. Associations between SNPs and IVH severity were tested with multivariable logistic regression analysis.ResultOne hundred thirty-nine infants with severe IVH and 687 infants with grade 1 or 0 IVH were included. One thousand two hundred seventy-nine SNPs were genotyped. Thirteen were preliminarily associated with severe IVH including five related to central nervous system (CNS) neuronal and neurovascular development.ConclusionGenetic variants for CNS neuronal and neurovascular development may be associated with severe IVH in premature infants.

Published
2021

6. A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration

Author

Orozco, Luz D., Owen, Leah A., Hofmann, Jeffrey, Stockwell, Amy D., Tao, Jianhua, Haller, Susan, Mukundan, Vineeth T., Clarke, Christine, Lund, Jessica, Sridhar, Akshayalakshmi, Mayba, Oleg, Barr, Julie L., Zavala, Rylee A., Graves, Elijah C., Zhang, Charles, Husami, Nadine, Finley, Robert, Au, Elizabeth, Lillvis, John H., Farkas, Michael H., Shakoor, Akbar, Sherva, Richard, Kim, Ivana K., Kaminker, Joshua S., Townsend, Michael J., Farrer, Lindsay A., Yaspan, Brian L., Chen, Hsu-Hsin, and DeAngelis, Margaret M.

Published
2023
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7. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Author

Bailey-Wilson, Joan E., Baird, Paul N., Barathi, Veluchamy A., Biino, Ginevra, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Haarman, Annechien E.G., Haller, Toomas, Hammond, Christopher J., Han, Xikun, Hayward, Caroline, He, Mingguang, Hewitt, Alex W., Hoang, Quan, Hysi, Pirro G., Iglesias, Adriana I., Igo, Robert P., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Khawaja, Anthony P., Klein, Barbara E., Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana, Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Martin, Nicholas G., Meguro, Akira, Metspalu, Andres, Middlebrooks, Candace, Miyake, Masahiro, Mizuki, Nobuhisa, Musolf, Anthony, Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Pärssinen, Olavi, Paterson, Andrew D., Pfeiffer, Norbert, Polasek, Ozren, Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Sahebjada, Srujana, Saw, Seang-Mei, Simpson, Claire L., Stambolian, Dwight, Tai, E-Shyong, Tedja, Milly S., Tideman, J. Willem L., Tsujikawa, Akitaka, van Duijn, Cornelia M., Verhoeven, Virginie J.M., Vitart, Veronique, Wang, Ningli, Wang, Ya Xing, Wedenoja, Juho, Wei, Wen Bin, Williams, Cathy, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Yam, Jason C.S., Yamashiro, Kenji, Yap, Maurice K.H., Yazar, Seyhan, Yip, Shea Ping, Young, Terri L., Zhou, Xiangtian, Allen, Naomi, Aslam, Tariq, Atan, Denize, Barman, Sarah, Barrett, Jenny, Bishop, Paul, Black, Graeme, Bunce, Catey, Carare, Roxana, Chakravarthy, Usha, Chan, Michelle, Chua, Sharon, Cipriani, Valentina, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew, Doney, Alexander, Egan, Cathy, Ennis, Sarah, Foster, Paul, Fruttiger, Marcus, Gallacher, John, Garway-Heath, David, Gibson, Jane, Gore, Dan, Guggenheim, Jeremy, Hammond, Chris, Hardcastle, Alison, Harding, Simon, Hogg, Ruth, Hysi, Pirro, Keane, Pearse A., Khaw, Peng Tee, Khawaja, Anthony, Lascaratos, Gerassimos, Littlejohns, Thomas, Lotery, Andrew, Luthert, Phil, MacGillivray, Tom, Mackie, Sarah, McGuinness, Bernadette, McKay, Gareth, McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James, Muthy, Zaynah, O'Sullivan, Eoin, Owen, Chris, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Pontikos, Nikolas, Rahi, Jugnoo, Rudnicka, Alicja, Self, Jay, Sergouniotis, Panagiotis, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Tapp, Robyn, Thaung, Caroline, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen, Viswanathan, Ananth, Williams, Katie, Woodside, Jayne, Yates, Max, Yip, Jennifer, Zheng, Yalin, Clark, Rosie, Lee, Samantha Sze-Yee, Du, Ran, Wang, Yining, Kneepkens, Sander C.M., Charng, Jason, Huang, Yu, Hunter, Michael L., Jiang, Chen, Tideman, J.Willem L., Melles, Ronald B., Klaver, Caroline C.W., Choquet, Hélène, and Ohno-Matsui, Kyoko

Published
2023
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8. Genetics of Age-Related Macular Degeneration

Author

Zavala, Rylee A., Hicks, Patrice M., Lillvis, John, Zhang, Charles, Farkas, Michael H., Owen, Leah A., DeAngelis, Margaret M., Husain, Deeba, Section editor, Gragoudas, Evangelos S., Section editor, Albert, Daniel M., editor, Miller, Joan W., editor, Azar, Dimitri T., editor, and Young, Lucy H., editor

Published
2022
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18. Patterns of Gene Expression, Splicing, and Allele-Specific Expression Vary among Macular Tissues and Clinical Stages of Age-Related Macular Degeneration

Author

Shwani, Treefa, primary, Zhang, Charles, additional, Owen, Leah A., additional, Shakoor, Akbar, additional, Vitale, Albert T., additional, Lillvis, John H., additional, Barr, Julie L., additional, Cromwell, Parker, additional, Finley, Robert, additional, Husami, Nadine, additional, Au, Elizabeth, additional, Zavala, Rylee A., additional, Graves, Elijah C., additional, Zhang, Sarah X., additional, Farkas, Michael H., additional, Ammar, David A., additional, Allison, Karen M., additional, Tawfik, Amany, additional, Sherva, Richard M., additional, Li, Mingyao, additional, Stambolian, Dwight, additional, Kim, Ivana K., additional, Farrer, Lindsay A., additional, and DeAngelis, Margaret M., additional

Published
2023
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19. Integrated multi-omics single cell atlas of the human retina

Author

Li, Jin, primary, Wang, Jun, additional, Ibarra, Ignacio L., additional, Cheng, Xuesen, additional, Luecken, Malte D, additional, Lu, Jiaxiong, additional, Monavarfeshani, Aboozar, additional, Yan, Wenjun, additional, Zheng, Yiqiao, additional, Zuo, Zhen, additional, Colborn, Samantha Lynn Zayas, additional, Cortez, Berenice Sarahi, additional, Owen, Leah A, additional, Tran, Nicholas M, additional, Shekhar, Karthik, additional, Sanes, Joshua R, additional, Stout, J Timothy, additional, Chen, Shiming, additional, Li, Yumei, additional, DeAngelis, Margaret M, additional, Theis, Fabian J, additional, and Chen, Rui, additional

Published
2023
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21. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Author

Ratnapriya, Rinki, Zhan, Xiaowei, Fariss, Robert N, Branham, Kari E, Zipprer, David, Chakarova, Christina F, Sergeev, Yuri V, Campos, Maria M, Othman, Mohammad, Friedman, James S, Maminishkis, Arvydas, Waseem, Naushin H, Brooks, Matthew, Rajasimha, Harsha K, Edwards, Albert O, Lotery, Andrew, Klein, Barbara E, Truitt, Barbara J, Li, Bingshan, Schaumberg, Debra A, Morgan, Denise J, Morrison, Margaux A, Souied, Eric, Tsironi, Evangelia E, Grassmann, Felix, Fishman, Gerald A, Silvestri, Giuliana, Scholl, Hendrik PN, Kim, Ivana K, Ramke, Jacqueline, Tuo, Jingsheng, Merriam, Joanna E, Merriam, John C, Park, Kyu Hyung, Olson, Lana M, Farrer, Lindsay A, Johnson, Matthew P, Peachey, Neal S, Lathrop, Mark, Baron, Robert V, Igo, Robert P, Klein, Ronald, Hagstrom, Stephanie A, Kamatani, Yoichiro, Martin, Tammy M, Jiang, Yingda, Conley, Yvette, Sahel, Jose-Alan, Zack, Donald J, Chan, Chi-Chao, Pericak-Vance, Margaret A, Jacobson, Samuel G, Gorin, Michael B, Klein, Michael L, Allikmets, Rando, Iyengar, Sudha K, Weber, Bernhard H, Haines, Jonathan L, Léveillard, Thierry, Deangelis, Margaret M, Stambolian, Dwight, Weeks, Daniel E, Bhattacharya, Shomi S, Chew, Emily Y, Heckenlively, John R, Abecasis, Gonçalo R, and Swaroop, Anand

Subjects
Eye Disease and Disorders of Vision, Human Genome, Neurodegenerative, Genetics, Clinical Research, Macular Degeneration, Aging, 2.1 Biological and endogenous factors, Aetiology, Eye, Adult, Aged, Amino Acid Sequence, Bruch Membrane, DNA Mutational Analysis, Exome, Extracellular Matrix, Fibrillin-2, Fibrillins, Genetic Association Studies, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Male, Meta-Analysis as Topic, Microfilament Proteins, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Protein Conformation, Protein Stability, Retina, Sequence Alignment, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four individuals of a two-generation family with autosomal dominant maculopathy and identified a rare variant p.Glu1144Lys in Fibrillin 2 (FBN2), a glycoprotein of the elastin-rich extracellular matrix (ECM). Sanger sequencing validated the segregation of this variant in the complete pedigree, including two additional affected and one unaffected individual. Sequencing of 192 maculopathy patients revealed additional rare variants, predicted to disrupt FBN2 function. We then undertook additional studies to explore the relationship of FBN2 to macular disease. We show that FBN2 localizes to Bruch's membrane and its expression appears to be reduced in aging and AMD eyes, prompting us to examine its relationship with AMD. We detect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD in 10 337 cases and 11 174 controls (OR = 1.10; P-value = 3.79 × 10(-5)). Thus, it appears that rare and common variants in a single gene--FBN2--can contribute to Mendelian and complex forms of macular degeneration. Our studies provide genetic evidence for a key role of elastin microfibers and Bruch's membrane in maintaining blood-retina homeostasis and establish the importance of studying orphan diseases for understanding more common clinical phenotypes.

Published
2014

23. Genetics of Age-Related Macular Degeneration

Author

Zavala, Rylee A., primary, Hicks, Patrice M., additional, Lillvis, John, additional, Zhang, Charles, additional, Farkas, Michael H., additional, Owen, Leah A., additional, and DeAngelis, Margaret M., additional

Published
2021
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24. Preclinical dose response study shows NR2E3can attenuate retinal degeneration in the retinitis pigmentosa mouse model RhoP23H+/−

Author

McNamee, Shannon M., Chan, Natalie P., Akula, Monica, Avola, Marielle O., Whalen, Maiya, Nystuen, Kaden, Singh, Pushpendra, Upadhyay, Arun K., DeAngelis, Margaret M., and Haider, Neena B.

Abstract

Retinitis pigmentosa (RP) is a heterogeneous disease and the main cause of vision loss within the group of inherited retinal diseases (IRDs). IRDs are a group of rare disorders caused by mutations in one or more of over 280 genes which ultimately result in blindness. Modifier genes play a key role in modulating disease phenotypes, and mutations in them can affect disease outcomes, rate of progression, and severity. Our previous studies have demonstrated that the nuclear hormone receptor 2 family e, member 3 (Nr2e3) gene reduced disease progression and loss of photoreceptor cell layers in RhoP23H−/−mice. This follow up, pharmacology study evaluates a longitudinal NR2E3dose response in the clinically relevant heterozygous RhoP23Hmouse. Reduced retinal degeneration and improved retinal morphology was observed 6 months following treatment evaluating three different NR2E3doses. Histological and immunohistochemical analysis revealed regions of photoreceptor rescue in the treated retinas of RhoP23H+/−mice. Functional assessment by electroretinogram (ERG) showed attenuated photoreceptor degeneration with all doses. This study demonstrates the effectiveness of different doses of NR2E3at reducing retinal degeneration and informs dose selection for clinical trials of RhoP23H-associated RP.

Published
2024
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25. The DeMixSC deconvolution framework uses single-cell sequencing plus a small benchmark dataset for improved analysis of cell-type ratios in complex tissue samples

Author

Guo, Shuai, primary, Liu, Xiaoqian, additional, Cheng, Xuesen, additional, Jiang, Yujie, additional, Ji, Shuangxi, additional, Liang, Qingnan, additional, Koval, Andrew, additional, Li, Yumei, additional, Owen, Leah A., additional, Kim, Ivana K., additional, Aparicio, Ana, additional, Weinstein, John N., additional, Kopetz, Scott, additional, DeAngelis, Margaret M., additional, Chen, Rui, additional, and Wang, Wenyi, additional

Published
2023
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26. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Author

Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., and DeAngelis, Margaret M.

Published
2019
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28. Abstract 4273: Integration with benchmark data of paired bulk and single-cell RNA sequencing data substantially improves the accuracy of bulk tissue deconvolution

Author

Guo, Shuai, primary, Cheng, Xuesen, additional, Koval, Andrew, additional, Ji, Shuangxi, additional, Liang, Qingnan, additional, Li, Yumei, additional, Owen, Leah A., additional, Kim, Ivana K., additional, Weinstein, John, additional, Kopetz, Scott, additional, Shen, John Paul, additional, DeAngelis, Margaret M., additional, Chen, Rui, additional, and Wang, Wenyi, additional

Published
2023
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29. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Author

Clark, Rosie, primary, Lee, Samantha Sze-Yee, additional, Du, Ran, additional, Wang, Yining, additional, Kneepkens, Sander C.M., additional, Charng, Jason, additional, Huang, Yu, additional, Hunter, Michael L., additional, Jiang, Chen, additional, Tideman, J.Willem L., additional, Melles, Ronald B., additional, Klaver, Caroline C.W., additional, Mackey, David A., additional, Williams, Cathy, additional, Choquet, Hélène, additional, Ohno-Matsui, Kyoko, additional, Guggenheim, Jeremy A., additional, Bailey-Wilson, Joan E., additional, Baird, Paul N., additional, Barathi, Veluchamy A., additional, Biino, Ginevra, additional, Burdon, Kathryn P., additional, Campbell, Harry, additional, Chen, Li Jia, additional, Cheng, Ching-Yu, additional, Chew, Emily Y., additional, Craig, Jamie E., additional, Deangelis, Margaret M., additional, Delcourt, Cécile, additional, Ding, Xiaohu, additional, Fan, Qiao, additional, Fossarello, Maurizio, additional, Foster, Paul J., additional, Gharahkhani, Puya, additional, Guo, Xiaobo, additional, Haarman, Annechien E.G., additional, Haller, Toomas, additional, Hammond, Christopher J., additional, Han, Xikun, additional, Hayward, Caroline, additional, He, Mingguang, additional, Hewitt, Alex W., additional, Hoang, Quan, additional, Hysi, Pirro G., additional, Iglesias, Adriana I., additional, Igo, Robert P., additional, Iyengar, Sudha K., additional, Jonas, Jost B., additional, Kähönen, Mika, additional, Kaprio, Jaakko, additional, Khawaja, Anthony P., additional, Klein, Barbara E., additional, Lass, Jonathan H., additional, Lee, Kris, additional, Lehtimäki, Terho, additional, Lewis, Deyana, additional, Li, Qing, additional, Li, Shi-Ming, additional, Lyytikäinen, Leo-Pekka, additional, MacGregor, Stuart, additional, Martin, Nicholas G., additional, Meguro, Akira, additional, Metspalu, Andres, additional, Middlebrooks, Candace, additional, Miyake, Masahiro, additional, Mizuki, Nobuhisa, additional, Musolf, Anthony, additional, Nickels, Stefan, additional, Oexle, Konrad, additional, Pang, Chi Pui, additional, Pärssinen, Olavi, additional, Paterson, Andrew D., additional, Pfeiffer, Norbert, additional, Polasek, Ozren, additional, Rahi, Jugnoo S., additional, Raitakari, Olli, additional, Rudan, Igor, additional, Sahebjada, Srujana, additional, Saw, Seang-Mei, additional, Simpson, Claire L., additional, Stambolian, Dwight, additional, Tai, E-Shyong, additional, Tedja, Milly S., additional, Tideman, J. Willem L., additional, Tsujikawa, Akitaka, additional, van Duijn, Cornelia M., additional, Verhoeven, Virginie J.M., additional, Vitart, Veronique, additional, Wang, Ningli, additional, Wang, Ya Xing, additional, Wedenoja, Juho, additional, Wei, Wen Bin, additional, Williams, Katie M., additional, Wilson, James F., additional, Wojciechowski, Robert, additional, Yam, Jason C.S., additional, Yamashiro, Kenji, additional, Yap, Maurice K.H., additional, Yazar, Seyhan, additional, Yip, Shea Ping, additional, Young, Terri L., additional, Zhou, Xiangtian, additional, Allen, Naomi, additional, Aslam, Tariq, additional, Atan, Denize, additional, Barman, Sarah, additional, Barrett, Jenny, additional, Bishop, Paul, additional, Black, Graeme, additional, Bunce, Catey, additional, Carare, Roxana, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Chua, Sharon, additional, Cipriani, Valentina, additional, Day, Alexander, additional, Desai, Parul, additional, Dhillon, Bal, additional, Dick, Andrew, additional, Doney, Alexander, additional, Egan, Cathy, additional, Ennis, Sarah, additional, Foster, Paul, additional, Fruttiger, Marcus, additional, Gallacher, John, additional, Garway-Heath, David, additional, Gibson, Jane, additional, Gore, Dan, additional, Guggenheim, Jeremy, additional, Hammond, Chris, additional, Hardcastle, Alison, additional, Harding, Simon, additional, Hogg, Ruth, additional, Hysi, Pirro, additional, Keane, Pearse A., additional, Khaw, Peng Tee, additional, Khawaja, Anthony, additional, Lascaratos, Gerassimos, additional, Littlejohns, Thomas, additional, Lotery, Andrew, additional, Luthert, Phil, additional, MacGillivray, Tom, additional, Mackie, Sarah, additional, McGuinness, Bernadette, additional, McKay, Gareth, additional, McKibbin, Martin, additional, Mitry, Danny, additional, Moore, Tony, additional, Morgan, James, additional, Muthy, Zaynah, additional, O'Sullivan, Eoin, additional, Owen, Chris, additional, Patel, Praveen, additional, Paterson, Euan, additional, Peto, Tunde, additional, Petzold, Axel, additional, Pontikos, Nikolas, additional, Rahi, Jugnoo, additional, Rudnicka, Alicja, additional, Self, Jay, additional, Sergouniotis, Panagiotis, additional, Sivaprasad, Sobha, additional, Steel, David, additional, Stratton, Irene, additional, Strouthidis, Nicholas, additional, Sudlow, Cathie, additional, Tapp, Robyn, additional, Thaung, Caroline, additional, Thomas, Dhanes, additional, Trucco, Emanuele, additional, Tufail, Adnan, additional, Vernon, Stephen, additional, Viswanathan, Ananth, additional, Williams, Katie, additional, Woodside, Jayne, additional, Yates, Max, additional, Yip, Jennifer, additional, and Zheng, Yalin, additional

Published
2023
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30. Heritable Risk and Protective Genetic Components of Glaucoma Medication Non-Adherence

Author

Barr, Julie L., primary, Feehan, Michael, additional, Tak, Casey, additional, Owen, Leah A., additional, Finley, Robert C., additional, Cromwell, Parker A., additional, Lillvis, John H., additional, Hicks, Patrice M., additional, Au, Elizabeth, additional, Farkas, Michael H., additional, Weiner, Asher, additional, Reynolds, Andrew L., additional, Sieminski, Sandra F., additional, Sherva, Richard M., additional, Munger, Mark A., additional, Brilliant, Murray H., additional, and DeAngelis, Margaret M., additional

Published
2023
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31. Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Author

Musolf, Anthony M., Haarman, Annechien E.G., Luben, Robert N., Ong, Jue Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Han, Xikun, He, Mingguang, Hewitt, Alex W., Hoang, Quan V., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Lass, Jonathan H., Wang, Ya Xing, van Duijn, Cornelia M., Verhoeven, Virginie J.M., Klaver, Caroline C.W., Bailey-Wilson, Joan E., Musolf, Anthony M., Haarman, Annechien E.G., Luben, Robert N., Ong, Jue Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Han, Xikun, He, Mingguang, Hewitt, Alex W., Hoang, Quan V., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Lass, Jonathan H., Wang, Ya Xing, van Duijn, Cornelia M., Verhoeven, Virginie J.M., Klaver, Caroline C.W., and Bailey-Wilson, Joan E.

Abstract

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions.

Published
2023

36. Patterns of gene expression and allele-specific expression vary among macular tissues and clinical stages of Age-related Macular Degeneration

Author

Zhang, Charles, primary, Barr, Julie L, additional, Owen, Leah A., additional, Shakoor, Akbar, additional, Vitale, Albert T, additional, Lillvis, John H, additional, Husami, Nadine, additional, Cromwell, Parker, additional, Finley, Robert, additional, Au, Elizabeth, additional, Haider, Neena B, additional, Zavala, Rylee A, additional, Graves, Elijah C, additional, Li, Mingyao, additional, Tawfik, Amany, additional, Zhang, Sarah X, additional, Stambolian, Dwight, additional, Farkas, Michael H, additional, Kim, Ivana K, additional, Sherva, Richard M, additional, Farrer, Lindsay, additional, and DeAngelis, Margaret M, additional

Published
2022
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40. Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy

Author

Nagel-Wolfrum, Kerstin, primary, Fadl, Benjamin R, additional, Becker, Mirjana M, additional, Wunderlich, Kirsten A, additional, Schäfer, Jessica, additional, Sturm, Daniel, additional, Fritze, Jacques, additional, Gür, Burcu, additional, Kaplan, Lew, additional, Andreani, Tommaso, additional, Goldmann, Tobias, additional, Brooks, Matthew, additional, Starostik, Margaret R, additional, Lokhande, Anagha, additional, Apel, Melissa, additional, Fath, Karl R, additional, Stingl, Katarina, additional, Kohl, Susanne, additional, DeAngelis, Margaret M, additional, Schlötzer-Schrehardt, Ursula, additional, Kim, Ivana K, additional, Owen, Leah A, additional, Vetter, Jan M, additional, Pfeiffer, Norbert, additional, Andrade-Navarro, Miguel A, additional, Grosche, Antje, additional, Swaroop, Anand, additional, and Wolfrum, Uwe, additional

Published
2022
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44. Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.

Author

Nagel-Wolfrum, Kerstin, Fadl, Benjamin R, Becker, Mirjana M, Wunderlich, Kirsten A, Schäfer, Jessica, Sturm, Daniel, Fritze, Jacques, Gür, Burcu, Kaplan, Lew, Andreani, Tommaso, Goldmann, Tobias, Brooks, Matthew, Starostik, Margaret R, Lokhande, Anagha, Apel, Melissa, Fath, Karl R, Stingl, Katarina, Kohl, Susanne, DeAngelis, Margaret M, and Schlötzer-Schrehardt, Ursula

Published
2023
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47. Genetic variants near TIMP3 and high-density lipoprotein—associated loci influence susceptibility to age-related macular degeneration

Author

Chen, Wei, Stambolian, Dwight, Edwards, Albert O., Branham, Kari E., Othman, Mohammad, Jakobsdottir, Johanna, Tosakulwong, Nirubol, Pericak-Vance, Margaret A., Campochiaro, Peter A., Klein, Michael L., Tan, Perciliz L., Conley, Yvette P., Kanda, Atsuhiro, Kopplin, Laura, Li, Yanming, Augustaitis, Katherine J., Karoukis, Athanasios J., Scott, William K., Agarwal, Anita, Kovach, Jaclyn L., Schwartz, Stephen G., Postel, Eric A., Brooks, Matthew, Baratz, Keith H., Brown, William L., Brucker, Alexander J., Orlin, Anton, Brown, Gary, Ho, Allen, Regillo, Carl, Donoso, Larry, Tian, Lifeng, Kaderli, Brian, Hadley, Dexter, Hagstrom, Stephanie A., Peachey, Neal S., Klein, Ronald, Klein, Barbara E. K., Gotoh, Norimoto, Yamashiro, Kenji, Ferris,, Frederick, Fagerness, Jesen A., Reynolds, Robyn, Farrer, Lindsay A., Kim, Ivana K., Miller, Joan W., Cortón, Marta, Carracedo, Angel, Sanchez-Salorio, Manuel, Pugh, Elizabeth W., Doheny, Kimberly F., Brion, Maria, DeAngelis, Margaret M., Weeks, Daniel E., Zack, Donald J., Chew, Emily Y., Heckenlively, John R., Yoshimura, Nagahisa, Iyengar, Sudha K., Francis, Peter J., Katsanis, Nicholas, Seddon, Johanna M., Haines, Jonathan L., Gorin, Michael B., Abecasis, Gonçalo R., Swaroop, Anand, and Keating, Mark T.

Published
2010

48. Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration

Author

Morrison Margaux A, Silveira Alexandra C, Huynh Nancy, Jun Gyungah, Smith Silvia E, Zacharaki Fani, Sato Hajime, Loomis Stephanie, Andreoli Michael T, Adams Scott M, Radeke Monte J, Jelcick Austin S, Yuan Yang, Tsiloulis Aristoteles N, Chatzoulis Dimitrios Z, Silvestri Giuliana, Kotoula Maria G, Tsironi Evangelia E, Hollis Bruce W, Chen Rui, Haider Neena B, Miller Joan W, Farrer Lindsay A, Hageman Gregory S, Kim Ivana K, Schaumberg Debra A, and DeAngelis Margaret M

Subjects
vitamin D, age-related macular degeneration, Medicine, Genetics, QH426-470
Abstract

Abstract Vitamin D has been shown to have anti-angiogenic properties and to play a protective role in several types of cancer, including breast, prostate and cutaneous melanoma. Similarly, vitamin D levels have been shown to be protective for risk of a number of conditions, including cardiovascular disease and chronic kidney disease, as well as numerous autoimmune disorders such as multiple sclerosis, inflammatory bowel diseases and type 1 diabetes mellitus. A study performed by Parekh et al. was the first to suggest a role for vitamin D in age-related macular degeneration (AMD) and showed a correlation between reduced serum vitamin D levels and risk for early AMD. Based on this study and the protective role of vitamin D in diseases with similar pathophysiology to AMD, we examined the role of vitamin D in a family-based cohort of 481 sibling pairs. Using extremely phenotypically discordant sibling pairs, initially we evaluated the association of neovascular AMD and vitamin D/sunlight-related epidemiological factors. After controlling for established AMD risk factors, including polymorphisms of the genes encoding complement factor H (CFH) and age-related maculopathy susceptibility 2/HtrA serine peptidase (ARMS2/HTRA1), and smoking history, we found that ultraviolet irradiance was protective for the development of neovascular AMD (p = 0.001). Although evaluation of serum vitamin D levels (25-hydroxyvitamin D [25(OH)D]) was higher in unaffected individuals than in their affected siblings, this finding did not reach statistical significance. Based on the relationship between ultraviolet irradiance and vitamin D production, we employed a candidate gene approach for evaluating common variation in key vitamin D pathway genes (the genes encoding the vitamin D receptor [VDR]; cytochrome P450, family 27, subfamily B, polypeptide 1 [CYP27B1]; cytochrome P450, family 24, subfamily A, polypeptide 1 [CYP24A1]; and CYP27A1) in this same family-based cohort. Initial findings were then validated and replicated in the extended family cohort, an unrelated case-control cohort from central Greece and a prospective nested case-control population from the Nurse's Health Study and Health Professionals Follow-Up Studies, which included patients with all subtypes of AMD for a total of 2,528 individuals. Single point variants in CYP24A1 (the gene encoding the catabolising enzyme of the vitamin D pathway) were demonstrated to influence AMD risk after controlling for smoking history, sex and age in all populations, both separately and, more importantly, in a meta-analysis. This is the first report demonstrating a genetic association between vitamin D metabolism and AMD risk. These findings were also supplemented with expression data from human donor eyes and human retinal cell lines. These data not only extend previous biological studies in the AMD field, but further emphasise common antecedents between several disorders with an inflammatory/immunogenic component such as cardiovascular disease, cancer and AMD.

Published
2011
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49. Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration

Author

Hageman Gregory S, Gehrs Karen, Lejnine Serguei, Bansal Aruna T, DeAngelis Margaret M, Guymer Robyn H, Baird Paul N, Allikmets Rando, Deciu Cosmin, Oeth Paul, and Perlee Lorah T

Subjects
age-related macular degeneration (AMD), choroidal neovascularisation (CNV), complement factor H (CFH), genetic testing, Medicine, Genetics, QH426-470
Abstract

Abstract Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are heterogeneous and control collections are prone to high false-negative rates, as many control subjects are likely to develop disease with advancing age. Risk prediction tests have been presented previously, using up to ten genetic markers and a range of self-reported non-genetic variables such as body mass index (BMI) and smoking history. In order to maximise the accuracy of prediction for mainstream genetic testing, we sought to derive a test comparable in performance to earlier testing models but based purely on genetic markers, which are static through life and not subject to misreporting. We report a multicentre assessment of a larger panel of single nucleotide polymorphisms (SNPs) than previously analysed, to improve further the classification performance of a predictive test to estimate the risk of developing choroidal neovascular (CNV) disease. We developed a predictive model based solely on genetic markers and avoided inclusion of self-reported variables (eg smoking history) or non-static factors (BMI, education status) that might otherwise introduce inaccuracies in calculating individual risk estimates. We describe the performance of a test panel comprising 13 SNPs genotyped across a consolidated collection of four patient cohorts obtained from academic centres deemed appropriate for pooling. We report on predictive effect sizes and their classification performance. By incorporating multiple cohorts of homogeneous ethnic origin, we obtained >80 per cent power to detect differences in genetic variants observed between cases and controls. We focused our study on CNV, a subtype of advanced AMD associated with a severe and potentially treatable form of the disease. Lastly, we followed a two-stage strategy involving both test model development and test model validation to present estimates of classification performance anticipated in the larger clinical setting. The model contained nine SNPs tagging variants in the regulators of complement activation (RCA) locus spanning the complement factor H (CFH), complement factor H-related 4 (CFHR4), complement factor H-related 5 (CFHR5) and coagulation factor XIII B subunit (F13B) genes; the four remaining SNPs targeted polymorphisms in the complement component 2 (C2), complement factor B (CFB), complement component 3 (C3) and age-related maculopathy susceptibility protein 2 (ARMS2) genes. The pooled sample size (1,132 CNV cases, 822 controls) allowed for both model development and model validation to confirm the accuracy of risk prediction. At the validation stage, our test model yielded 82 per cent sensitivity and 63 per cent specificity, comparable with metrics reported with earlier testing models that included environmental risk factors. Our test had an area under the curve of 0.80, reflecting a modest improvement compared with tests reported with fewer SNPs.

Published
2011
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