617 results on '"Kang, Jae H."'
Search Results
2. Use of Diagnostic Codes for Primary Open-Angle Glaucoma Polygenic Risk Score Construction in Electronic Health Record–Linked Biobanks
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Tran, Jessica H., Kang, Joyce, Han, Elaine, Gupta, Urvi, Seresirikachorn, Kasem, Vy, Ha My T., Zhao, Yan, Rocheleau, Ghislain, Luo, Yuyang, Lee, Rachel, Do, Ron, Friedman, David S., Kang, Jae H., Wiggs, Janey L., Pasquale, Louis R., Segrè, Ayellet V., and Zebardast, Nazlee
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- 2024
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3. The association of posttraumatic stress disorder, depression, and head injury with mid‐life cognitive function in civilian women
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Lawn, Rebecca B, Jha, Shaili C, Liu, Jiaxuan, Sampson, Laura, Murchland, Audrey R, Sumner, Jennifer A, Roberts, Andrea L, Disner, Seth G, Grodstein, Francine, Kang, Jae H, Kubzansky, Laura D, Chibnik, Lori B, and Koenen, Karestan C
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Clinical and Health Psychology ,Psychology ,Depression ,Mind and Body ,Anxiety Disorders ,Behavioral and Social Science ,Neurosciences ,Post-Traumatic Stress Disorder (PTSD) ,Physical Injury - Accidents and Adverse Effects ,Clinical Research ,Mental Health ,Brain Disorders ,Aetiology ,2.3 Psychological ,social and economic factors ,Evaluation of treatments and therapeutic interventions ,6.6 Psychological and behavioural ,Mental health ,Good Health and Well Being ,Aged ,Cognition ,Craniocerebral Trauma ,Cross-Sectional Studies ,Female ,Humans ,Middle Aged ,Stress Disorders ,Post-Traumatic ,cognition ,cogstate ,depression ,head injury ,mild traumatic brain injury ,posttraumatic stress disorder ,women ,Clinical Sciences ,Psychiatry ,Clinical sciences ,Clinical and health psychology ,Social and personality psychology - Abstract
BackgroundDespite evidence linking posttraumatic stress disorder (PTSD), depression, and head injury, separately, with worse cognitive performance, investigations of their combined effects on cognition are limited in civilian women.MethodsThe Cogstate Brief Battery assessment was administered in 10,681 women from the Nurses' Health Study II cohort, mean age 64.9 years (SD = 4.6). Psychological trauma, PTSD, depression, and head injury were assessed using online questionnaires. In this cross-sectional analysis, we used linear regression models to estimate mean differences in cognition by PTSD/depression status and stratified by history of head injury.ResultsHistory of head injury was prevalent (36%), and significantly more prevalent among women with PTSD and depression (57% of women with PTSD and depression, 21% of women with no psychological trauma or depression). Compared to having no psychological trauma or depression, having combined PTSD and depression was associated with worse performance on psychomotor speed/attention ( β = -.15, p = .001) and learning/working memory ( β = -.15, p
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- 2022
4. Association between Diabetes and Exfoliation Syndrome: A Systematic Review and Meta-Analysis of Observational Studies
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Yu, Megan, Hwang, Hannah H., Wiggs, Janey L., Pasquale, Louis R., and Kang, Jae H.
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- 2024
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5. Immune-mediated diseases and subsequent risk of alopecia areata in a prospective study of US women
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Moseley, Isabelle H., Thompson, Jordan M., George, Elisabeth A., Ragi, Sara D., Kang, Jae H., Reginato, Anthony M., Qureshi, Abrar, and Cho, Eunyoung
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- 2023
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6. Pre-pandemic resilience to trauma and mental health outcomes during COVID-19
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Choi, Karmel W., Nishimi, Kristen, Jha, Shaili C., Sampson, Laura, Hahn, Jill, Kang, Jae H., Koenen, Karestan C., and Kubzansky, Laura D.
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- 2023
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7. The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population
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Aschard, Hugues, Chia, Mark, Chua, Sharon, Do, Ron, Foster, Paul, Kang, Jae, Kastner, Alan, Khawaja, Anthony, Kim, Jihye, Lentjes, Marleen, Luben, Robert, Madjedi, Kian, Montesano, Giovanni, Pasquale, Louis, Stuart, Kelsey, Warwick, Alasdair, Wiggs, Janey, Allen, Naomi, Aslam, Tariq, Atan, Denize, Barman, Sarah, Barrett, Jenny, Bishop, Paul, Black, Graeme, Braithwaite, Tasanee, Carare, Roxana, Chakravarthy, Usha, Chan, Michelle, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew, Doney, Alexander, Egan, Cathy, Ennis, Sarah, Fruttiger, Marcus, Garway-Heath, David (Ted), Gibson, Jane, Guggenheim, Jeremy, Hammond, Chris, Hardcastle, Alison, Harding, Simon, Hogg, Ruth, Hysi, Pirro, Keane, Pearse, Khaw, Peng Tee, Lascaratos, Gerassimos, Littlejohns, Thomas, Lotery, Andrew, Luthert, Phil, MacGillivray, Tom, Mackie, Sarah, McGuinness, Bernadette, McKay, Gareth, McKibbin, Martin, Moore, Tony, Morgan, James, O'Sullivan, Eoin, Oram, Richard, Owen, Chris, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Pontikos, Nikolas, Rahi, Jugnoo, Rudnicka, Alicja, Sattar, Naveed, Self, Jay, Sergouniotis, Panagiotis, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Sun, Zihan, Tapp, Robyn, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Viswanathan, Ananth, Vitart, Veronique, Weedon, Mike, Williams, Katie, Williams, Cathy, Woodside, Jayne, Yates, Max, Yip, Jennifer, Zheng, Yalin, Aung, Tin, Burdon, Kathryn, Chen, Li, Cheng, Ching-Yu, Craig, Jamie, Cree, Angela, de Vries, Victor, Driessen, Sjoerd, Fingert, John, Gharahkhani, Puya, Hammond, Christopher, Hayward, Caroline, Hewitt, Alex, Jansonius, Nomdo, Jonansson, Fridbert, Jonas, Jost, Kass, Michael, Khor, Chiea, Klaver, Caroline, Koh, Jacyline, MacGregor, Stuart, Mackey, David, Mitchell, Paul, Pang, Calvin, Pasutto, Francesca, Pfeiffer, Norbert, Polašek, Ozren, Ramdas, Wishal, Schuster, Alexander, Segrè, Ayellet, Stefansson, Einer, Stefánsson, Kári, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, van Duijn, Cornelia, Vergroesen, Joëlle, Vithana, Eranga, Wilson, James, Wojciechowski, Robert, Wong, Tien, Young, Terri, Stuart, Kelsey V., Biradar, Mahantesh I., Luben, Robert N., Dhaun, Neeraj, Wagner, Siegfried K., Warwick, Alasdair N., Madjedi, Kian M., Pasquale, Louis R., Wiggs, Janey L., Kang, Jae H., Lentjes, Marleen A.H., Foster, Paul J., and Khawaja, Anthony P.
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- 2024
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8. Bereavement, Memorial Attendance, and Mental Health During the COVID-19 Pandemic: Longitudinal Results from the Nurses’ Health Study
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Denckla, Christy A., Hahn, Jill, Cowden, Richard G., Ho, Samuel, Gao, Katie, Espinosa Dice, Ana Lucia, Jha, Shaili C., Kang, Jae H., and Shear, M. Katherine
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- 2023
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9. Towards modifying the genetic predisposition for glaucoma: An overview of the contribution and interaction of genetic and environmental factors
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Stuart, Kelsey V., Pasquale, Louis R., Kang, Jae H., Foster, Paul J., and Khawaja, Anthony P.
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- 2023
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10. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
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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
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NEIGHBORHOOD consortium ,ANZRAG consortium ,Biobank Japan project ,FinnGen study ,UK Biobank Eye and Vision Consortium ,GIGA study group ,and Me Research Team ,Humans ,Glaucoma ,Open-Angle ,Genetic Predisposition to Disease ,Genotype ,Polymorphism ,Single Nucleotide ,Asian Continental Ancestry Group ,European Continental Ancestry Group ,Genome-Wide Association Study ,Genetic Loci ,Glaucoma ,Open-Angle ,Polymorphism ,Single Nucleotide - 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.
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- 2021
11. The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank
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Aschard, Hugues, Chia, Mark, Chua, Sharon, Do, Ron, Foster, Paul, Kang, Jae, Kastner, Alan, Khawaja, Anthony, Kim, Jihye, Lentjes, Marleen, Luben, Robert, Madjedi, Kian, Montesano, Giovanni, Pasquale, Louis, Stuart, Kelsey, Warwick, Alasdair, Wiggs, Janey, Allen, Naomi, Aslam, Tariq, Atan, Denize, Barman, Sarah, Barrett, Jenny, Bishop, Paul, Black, Graeme, Braithwaite, Tasanee, Carare, Roxana, Chakravarthy, Usha, Chan, Michelle, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew, Doney, Alexander, Egan, Cathy, Ennis, Sarah, Fruttiger, Marcus, Gallacher, John, Garway-Heath, David (Ted), Gibson, Jane, Guggenheim, Jeremy, Hammond, Chris, Hardcastle, Alison, Harding, Simon, Hogg, Ruth, Hysi, Pirro, Keane, Pearse, Khaw, Peng Tee, Lascaratos, Gerassimos, Littlejohns, Thomas, Lotery, Andrew, Luthert, Phil, MacGillivray, Tom, Mackie, Sarah, McGuinness, Bernadette, McKay, Gareth, McKibbin, Martin, Moore, Tony, Morgan, James, O'Sullivan, Eoin, Oram, Richard, Owen, Chris, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Pontikos, Nikolas, Rahi, Jugnoo, Rudnicka, Alicja, Sattar, Naveed, Self, Jay, Sergouniotis, Panagiotis, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Sun, Zihan, Tapp, Robyn, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Viswanathan, Ananth, Vitart, Veronique, Weedon, Mike, Williams, Katie, Williams, Cathy, Woodside, Jayne, Yates, Max, Yip, Jennifer, Zheng, Yalin, Aung, Tin, Burdon, Kathryn, Chen, Li, Cheng, Ching-Yu, Craig, Jamie, Cree, Angela, de Vries, Victor, Driessen, Sjoerd, Fingert, John, Gharahkhani, Puya, Hammond, Christopher, Hayward, Caroline, Hewitt, Alex, Jansonius, Nomdo, Jonansson, Fridbert, Jonas, Jost, Kass, Michael, Khor, Chiea, Klaver, Caroline, Koh, Jacyline, MacGregor, Stuart, Mackey, David, Mitchell, Paul, Pang, Calvin, Pasutto, Francesca, Pfeiffer, Norbert, Polašek, Ozren, Ramdas, Wishal, Schuster, Alexander, Segrè, Ayellet, Stefansson, Einer, Stefánsson, Kári, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, van Duijn, Cornelia, Vergroesen, Joëlle, Vithana, Eranga, Wilson, James, Wojciechowski, Robert, Wong, Tien, Young, Terri, Stuart, Kelsey V., Luben, Robert N., Warwick, Alasdair N., Madjedi, Kian M., Patel, Praveen J., Biradar, Mahantesh I., Chia, Mark A., Pasquale, Louis R., Wiggs, Janey L., Kang, Jae H., Tran, Jessica H., Lentjes, Marleen A.H., Foster, Paul J., and Khawaja, Anthony P.
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- 2023
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12. Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis
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Fan, Bao Jian, Bailey, Jessica Cooke, Igo, Rob P, Kang, Jae H, Boumenna, Tahani, Brilliant, Murray H, Budenz, Donald L, Fingert, John H, Gaasterland, Terry, Gaasterland, Douglas, Hauser, Michael A, Kraft, Peter, Lee, Richard K, Lichter, Paul R, Liu, Yutao, Moroi, Syoko E, Myers, Jonathan S, Pericak-Vance, Margaret A, Realini, Anthony, Rhee, Douglas J, Richards, Julia E, Ritch, Robert, Schuman, Joel S, Scott, William K, Singh, Kuldev, Sit, Arthur J, Vollrath, Douglas, Weinreb, Robert N, Wollstein, Gadi, Zack, Donald J, Haines, Jonathan L, Pasquale, Louis R, and Wiggs, Janey L
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Neurosciences ,Clinical Research ,Human Genome ,Eye Disease and Disorders of Vision ,Neurodegenerative ,Genetics ,Aging ,Prevention ,2.1 Biological and endogenous factors ,Aetiology ,Opthalmology and Optometry ,Ophthalmology & Optometry - Abstract
ImportanceGenetic variants associated with primary open-angle glaucoma (POAG) are known to influence disease risk. However, the clinical effect of associated variants individually or in aggregate is not known. Genetic risk scores (GRS) examine the cumulative genetic load by combining individual genetic variants into a single measure, which is assumed to have a larger effect and increased power to detect relevant disease-related associations.ObjectiveTo investigate if a GRS that comprised 12 POAG genetic risk variants is associated with age at disease diagnosis.Design, setting, and participantsA cross-sectional study included individuals with POAG and controls from the Glaucoma Genes and Environment (GLAUGEN) study and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) study. A GRS was formulated using 12 variants known to be associated with POAG, and the alleles associated with increasing risk of POAG were aligned in the case-control sets. In case-only analyses, the association of the GRS with age at diagnosis was analyzed as an estimate of disease onset. Results from cohort-specific analyses were combined with meta-analysis. Data collection started in August 2012 for the NEIGHBOR cohort and in July 2008 for the GLAUGEN cohort and were analyzed starting in March 2018.Main outcomes and measuresAssociation of a 12 single-nucleotide polymorphism POAG GRS with age at diagnosis in individuals with POAG using linear regression.ResultsThe GLAUGEN study included 976 individuals with POAG and 1140 controls. The NEIGHBOR study included 2132 individuals with POAG and 2290 controls. For individuals with POAG, the mean (SD) age at diagnosis was 63.6 (9.8) years in the GLAUGEN cohort and 66.0 (13.7) years in the NEIGHBOR cohort. For controls, the mean (SD) age at enrollment was 65.5 (9.2) years in the GLAUGEN cohort and 68.9 (11.4) years in the NEIGHBOR cohort. All study participants were European white. The GRS was strongly associated with POAG risk in case-control analysis (odds ratio per 1-point increase in score = 1.24; 95% CI, 1.21-1.27; P = 3.4 × 10-66). In case-only analyses, each higher GRS unit was associated with a 0.36-year earlier age at diagnosis (β = -0.36; 95% CI, -0.56 to -0.16; P = 4.0 × 10-4). Individuals in the top 5% of the GRS had a mean (SD) age at diagnosis of 5.2 (12.8) years earlier than those in the bottom 5% GRS (61.4 [12.7] vs 66.6 [12.9] years; P = 5.0 × 10-4).Conclusions and relevanceA higher dose of POAG risk alleles was associated with an earlier age at glaucoma diagnosis. On average, individuals with POAG with the highest GRS had 5.2-year earlier age at diagnosis of disease. These results suggest that a GRS that comprised genetic variants associated with POAG could help identify patients with risk of earlier disease onset impacting screening and therapeutic strategies.
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- 2019
13. Long-term Alcohol Consumption and Risk of Exfoliation Glaucoma or Glaucoma Suspect Status among United States Health Professionals
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Hanyuda, Akiko, Rosner, Bernard A., Wiggs, Janey L., Negishi, Kazuno, Pasquale, Louis R., and Kang, Jae H.
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- 2023
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14. The Association of Physical Activity with Glaucoma and Related Traits in the UK Biobank
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Madjedi, Kian M., Stuart, Kelsey V., Chua, Sharon Y.L., Ramulu, Pradeep Y., Warwick, Alasdair, Luben, Robert N., Sun, Zihan, Chia, Mark A., Aschard, Hugues, Wiggs, Janey L., Kang, Jae H., Pasquale, Louis R., Foster, Paul J., and Khawaja, Anthony P.
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- 2023
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15. Post-traumatic stress disorder symptom remission and cognition in a large cohort of civilian women – CORRIGENDUM
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Liu, Jiaxuan, primary, Roberts, Andrea L., additional, Lawn, Rebecca B., additional, Jha, Shaili C., additional, Sampson, Laura, additional, Sumner, Jennifer A., additional, Kang, Jae H., additional, Rimm, Eric B., additional, Grodstein, Francine, additional, Liang, Liming, additional, Haneuse, Sebastien, additional, Kubzansky, Laura D., additional, Koenen, Karestan C., additional, and Chibnik, Lori B., additional
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- 2024
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16. Disparities in cancer incidence by sexual orientation
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Huang, Aimee K., primary, Hoatson, Tabor, additional, Chakraborty, Payal, additional, McKetta, Sarah, additional, Soled, Kodiak R. S., additional, Reynolds, Colleen A., additional, Boehmer, Ulrike, additional, Miranda, Alexis R., additional, Streed, Carl G., additional, Maingi, Shail, additional, Haneuse, Sebastien, additional, Young, Jessica G., additional, Kang, Jae H., additional, Austin, S. Bryn, additional, Eliassen, A. Heather, additional, and Charlton, Brittany M., additional
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- 2024
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17. The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population
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Stuart, Kelsey V., primary, Biradar, Mahantesh I., additional, Luben, Robert N., additional, Dhaun, Neeraj, additional, Wagner, Siegfried K., additional, Warwick, Alasdair N., additional, Sun, Zihan, additional, Madjedi, Kian M., additional, Pasquale, Louis R., additional, Wiggs, Janey L., additional, Kang, Jae H., additional, Lentjes, Marleen A.H., additional, Aschard, Hugues, additional, Kim, Jihye, additional, Foster, Paul J., additional, Khawaja, Anthony P., additional, Chia, Mark, additional, Chua, Sharon, additional, Do, Ron, additional, Foster, Paul, additional, Kang, Jae, additional, Kastner, Alan, additional, Khawaja, Anthony, additional, Lentjes, Marleen, additional, Luben, Robert, additional, Madjedi, Kian, additional, Montesano, Giovanni, additional, Pasquale, Louis, additional, Stuart, Kelsey, additional, Warwick, Alasdair, additional, Wiggs, Janey, additional, Allen, Naomi, additional, Aslam, Tariq, additional, Atan, Denize, additional, Barman, Sarah, additional, Barrett, Jenny, additional, Bishop, Paul, additional, Black, Graeme, additional, Braithwaite, Tasanee, additional, Carare, Roxana, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Day, Alexander, additional, Desai, Parul, additional, Dhillon, Bal, additional, Dick, Andrew, additional, Doney, Alexander, additional, Egan, Cathy, additional, Ennis, Sarah, additional, Fruttiger, Marcus, additional, Garway-Heath, David (Ted), additional, Gibson, Jane, additional, Guggenheim, Jeremy, additional, Hammond, Chris, additional, Hardcastle, Alison, additional, Harding, Simon, additional, Hogg, Ruth, additional, Hysi, Pirro, additional, Keane, Pearse, additional, Khaw, Peng Tee, 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, Moore, Tony, additional, Morgan, James, additional, O'Sullivan, Eoin, additional, Oram, Richard, 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, Sattar, Naveed, 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, Thomas, Dhanes, additional, Trucco, Emanuele, additional, Tufail, Adnan, additional, Viswanathan, Ananth, additional, Vitart, Veronique, additional, Weedon, Mike, additional, Williams, Katie, additional, Williams, Cathy, additional, Woodside, Jayne, additional, Yates, Max, additional, Yip, Jennifer, additional, Zheng, Yalin, additional, Aung, Tin, additional, Burdon, Kathryn, additional, Chen, Li, additional, Cheng, Ching-Yu, additional, Craig, Jamie, additional, Cree, Angela, additional, de Vries, Victor, additional, Driessen, Sjoerd, additional, Fingert, John, additional, Gharahkhani, Puya, additional, Hammond, Christopher, additional, Hayward, Caroline, additional, Hewitt, Alex, additional, Jansonius, Nomdo, additional, Jonansson, Fridbert, additional, Jonas, Jost, additional, Kass, Michael, additional, Khor, Chiea, additional, Klaver, Caroline, additional, Koh, Jacyline, additional, MacGregor, Stuart, additional, Mackey, David, additional, Mitchell, Paul, additional, Pang, Calvin, additional, Pasutto, Francesca, additional, Pfeiffer, Norbert, additional, Polašek, Ozren, additional, Ramdas, Wishal, additional, Schuster, Alexander, additional, Segrè, Ayellet, additional, Stefansson, Einer, additional, Stefánsson, Kári, additional, Thorleifsson, Gudmar, additional, Thorsteinsdottir, Unnur, additional, van Duijn, Cornelia, additional, Vergroesen, Joëlle, additional, Vithana, Eranga, additional, Wilson, James, additional, Wojciechowski, Robert, additional, Wong, Tien, additional, and Young, Terri, additional
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- 2024
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18. The Association of Female Reproductive Factors with Glaucoma and Related Traits: A Systematic Review
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Madjedi, Kian M., Stuart, Kelsey V., Chua, Sharon Y.L., Foster, Paul J., Strouthidis, Nicholas G., Luben, Robert N., Warwick, Alasdair N., Kang, Jae H., Wiggs, Janey L., Pasquale, Louis R., and Khawaja, Anthony P.
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- 2022
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19. Head and Neck Region Dermatological Ultraviolet-Related Cancers are Associated with Exfoliation Syndrome in a Clinic-Based Population
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Huang, Jeff J., Geduldig, Jack E., Jacobs, Erica B., Tai, Tak Yee T., Ahmad, Sumayya, Chadha, Nisha, Buxton, Douglas F., Vinod, Kateki, Wirostko, Barbara M., Kang, Jae H., Wiggs, Janey L., Ritch, Robert, and Pasquale, Louis R.
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- 2022
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20. Prepregnancy Migraine, Migraine Phenotype, and Risk of Adverse Pregnancy Outcomes
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Purdue-Smithe, Alexandra C, Stuart, Jennifer J, Farland, Leslie V, Kang, Jae H, Harriott, Andrea M., Rich-Edwards, Janet W, and Rexrode, Kathryn
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- 2023
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21. Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
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Iglesias, Adriana I, Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N Cooke, Willoughby, Colin E, Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P, Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L, Kearns, Lisa S, Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M, Taylor, Kent D, Blue Mountains Eye Study - GWAS group, Bonnemaijer, Pieter, Rotter, Jerome I, Martin, Nicholas G, Zeller, Tanja, Mills, Richard A, Souzeau, Emmanuelle, Staffieri, Sandra E, Jonas, Jost B, Schmidtmann, Irene, Boutin, Thibaud, Kang, Jae H, Lucas, Sionne EM, Wong, Tien Yin, Beutel, Manfred E, Wilson, James F, Wellcome Trust Case Control Consortium 2 (WTCCC2), NEIGHBORHOOD consortium, Uitterlinden, André G, Vithana, Eranga N, Foster, Paul J, Hysi, Pirro G, Hewitt, Alex W, Khor, Chiea Chuen, Pasquale, Louis R, Montgomery, Grant W, Klaver, Caroline CW, Aung, Tin, Pfeiffer, Norbert, Mackey, David A, Hammond, Christopher J, Cheng, Ching-Yu, Craig, Jamie E, Rabinowitz, Yaron S, Wiggs, Janey L, Burdon, Kathryn P, van Duijn, Cornelia M, and MacGregor, Stuart
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Blue Mountains Eye Study - GWAS group ,Wellcome Trust Case Control Consortium 2 ,NEIGHBORHOOD consortium ,Eye Disease and Disorders of Vision - Abstract
Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article.
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- 2019
22. Trauma, Post-Traumatic Stress Disorder, and Treatment Among Middle-Aged and Older Women in the Nurses’ Health Study II
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Sampson, Laura, Jha, Shaili C., Roberts, Andrea L., Lawn, Rebecca B., Nishimi, Kristen M., Ratanatharathorn, Andrew, Sumner, Jennifer A., Kang, Jae H., Kubzansky, Laura D., Rimm, Eric B., and Koenen, Karestan C.
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- 2022
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23. Metformin and other anti‐diabetic medication use and breast cancer incidence in the Nurses' Health Studies.
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Wang, Tengteng, Chai, Boyang, Chen, Wendy Y., Holmes, Michelle D., Erdrich, Jennifer, Hu, Frank B., Rosner, Bernard A., Tamimi, Rulla M., Willett, Walter C., Kang, Jae H., and Eliassen, A. Heather
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BREAST cancer ,METFORMIN ,PROPORTIONAL hazards models ,TYPE 2 diabetes ,DRUGS - Abstract
We aimed to examine the association between the use of metformin and other anti‐diabetic medications and breast cancer incidence within two large prospective cohort studies. We followed 185,181 women who participated in the Nurses' Health Study (NHS; 1994–2016) and the NHSII (1995–2017), with baseline corresponding to the date metformin was approved for type 2 diabetes (T2D) treatment in the US Information on T2D diagnosis, anti‐diabetes medications, and other covariates was self‐reported at baseline and repeatedly assessed by follow‐up questionnaires every 2 years. Breast cancer cases were self‐reported and confirmed by medical record review. Hazard ratios (HRs) and 95% confidence intervals (CIs) for the association between medication use and breast cancer were estimated using Cox proportional hazards regression models, adjusting for breast cancer risk factors. During 3,324,881 person‐years of follow‐up, we ascertained 9,192 incident invasive breast cancer cases, of which 451 were among women with T2D. Compared with women without T2D (n = 169,263), neither metformin use (HR = 0.97; 95% CI = 0.81–1.15) nor other anti‐diabetic medications use (HR = 1.11; 95% CI = 0.90–1.36) associated with significantly lower breast cancer incidence. Among women with T2D (n = 15,918), compared with metformin never users, metformin ever use was not significantly inversely associated with breast cancer (HR = 0.92; 95% CI = 0.74–1.15). Although we observed that past use of metformin was inversely associated with breast cancer in the T2D population (HR = 0.67; 95% CI = 0.48–0.94), current use (HR = 1.01; 95% CI = 0.80–1.27) and longer duration of metformin use were not associated with breast cancer (each 2‐year interval: HR = 1.01; 95% CI = 0.95–1.07). Overall, metformin use was not associated with the risk of developing breast cancer among the overall cohort population or among women with T2D. [ABSTRACT FROM AUTHOR]
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- 2024
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24. Relationship Between Oral Health and Glaucoma Traits in the United Kingdom.
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Lee, Rachel H., Kang, Jae H., Wiggs, Janey L., Wagner, Siegfried K., Khawaja, Anthony P., and Pasquale, Louis R.
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- 2024
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25. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
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Iglesias, Adriana I, Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N Cooke, Willoughby, Colin E, Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P, Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L, Kearns, Lisa S, Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M, Taylor, Kent D, Blue Mountains Eye Study—GWAS group, Bonnemaijer, Pieter, Rotter, Jerome I, Martin, Nicholas G, Zeller, Tanja, Mills, Richard A, Souzeau, Emmanuelle, Staffieri, Sandra E, Jonas, Jost B, Schmidtmann, Irene, Boutin, Thibaud, Kang, Jae H, Lucas, Sionne EM, Wong, Tien Yin, Beutel, Manfred E, Wilson, James F, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Uitterlinden, André G, Vithana, Eranga N, Foster, Paul J, Hysi, Pirro G, Hewitt, Alex W, Khor, Chiea Chuen, Pasquale, Louis R, Montgomery, Grant W, Klaver, Caroline CW, Aung, Tin, Pfeiffer, Norbert, Mackey, David A, Hammond, Christopher J, Cheng, Ching-Yu, Craig, Jamie E, Rabinowitz, Yaron S, Wiggs, Janey L, Burdon, Kathryn P, van Duijn, Cornelia M, and MacGregor, Stuart
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Blue Mountains Eye Study—GWAS group ,NEIGHBORHOOD Consortium ,Wellcome Trust Case Control Consortium 2 ,Cornea ,Humans ,Marfan Syndrome ,Corneal Diseases ,Corneal Dystrophies ,Hereditary ,Keratoconus ,Eye Diseases ,Hereditary ,Glaucoma ,Open-Angle ,Myopia ,Ehlers-Danlos Syndrome ,Proteoglycans ,Gene Expression ,Quantitative Trait ,Heritable ,Polymorphism ,Single Nucleotide ,Quantitative Trait Loci ,Genome ,Human ,Asian Continental Ancestry Group ,European Continental Ancestry Group ,Transforming Growth Factor beta2 ,Genome-Wide Association Study ,Loeys-Dietz Syndrome ,Mendelian Randomization Analysis ,Decorin ,Lumican ,Fibrillin-1 ,ADAMTS Proteins ,Corneal Dystrophies ,Hereditary ,Eye Diseases ,Glaucoma ,Open-Angle ,Quantitative Trait ,Heritable ,Polymorphism ,Single Nucleotide ,Genome ,Human - Abstract
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 × 10-5) but not between CCT and primary open-angle glaucoma (r = -0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.
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- 2018
26. Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets
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Cooke Bailey, Jessica N, Gharahkhani, Puya, Kang, Jae H, Butkiewicz, Mariusz, Sullivan, David A, Weinreb, Robert N, Aschard, Hugues, Allingham, R Rand, Ashley-Koch, Allison, Lee, Richard K, Moroi, Sayoko E, Brilliant, Murray H, Wollstein, Gadi, Schuman, Joel S, Fingert, John H, Budenz, Donald L, Realini, Tony, Gaasterland, Terry, Scott, William K, Singh, Kuldev, Sit, Arthur J, Igo, Robert P, Song, Yeunjoo E, Hark, Lisa, Ritch, Robert, Rhee, Douglas J, Vollrath, Douglas, Zack, Donald J, Medeiros, Felipe, Vajaranant, Thasarat S, Chasman, Daniel I, Christen, William G, Pericak-Vance, Margaret A, Liu, Yutao, Kraft, Peter, Richards, Julia E, Rosner, Bernard A, Hauser, Michael A, Craig, Jamie E, Burdon, Kathryn P, Hewitt, Alex W, Mackey, David A, Haines, Jonathan L, MacGregor, Stuart, Wiggs, Janey L, and Pasquale, Louis R
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Genetics ,Neurodegenerative ,Aging ,2.1 Biological and endogenous factors ,Aetiology ,Datasets as Topic ,Female ,Gene Frequency ,Genome-Wide Association Study ,Genotype ,Glaucoma ,Open-Angle ,Humans ,Intraocular Pressure ,Low Tension Glaucoma ,Male ,Metabolic Networks and Pathways ,Middle Aged ,Polymorphism ,Single Nucleotide ,Testosterone ,primary open-angle glaucoma ,testosterone ,genetics ,pathway analysis ,Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium ,Biological Sciences ,Medical and Health Sciences ,Ophthalmology & Optometry - Abstract
Purpose:Sex hormones may be associated with primary open-angle glaucoma (POAG), although the mechanisms are unclear. We previously observed that gene variants involved with estrogen metabolism were collectively associated with POAG in women but not men; here we assessed gene variants related to testosterone metabolism collectively and POAG risk. Methods:We used two datasets: one from the United States (3853 cases and 33,480 controls) and another from Australia (1155 cases and 1992 controls). Both datasets contained densely called genotypes imputed to the 1000 Genomes reference panel. We used pathway- and gene-based approaches with Pathway Analysis by Randomization Incorporating Structure (PARIS) software to assess the overall association between a panel of single nucleotide polymorphisms (SNPs) in testosterone metabolism genes and POAG. In sex-stratified analyses, we evaluated POAG overall and POAG subtypes defined by maximum IOP (high-tension [HTG] or normal tension glaucoma [NTG]). Results:In the US dataset, the SNP panel was not associated with POAG (permuted P = 0.77), although there was an association in the Australian sample (permuted P = 0.018). In both datasets, the SNP panel was associated with POAG in men (permuted P ≤ 0.033) and not women (permuted P ≥ 0.42), but in gene-based analyses, there was no consistency on the main genes responsible for these findings. In both datasets, the testosterone pathway association with HTG was significant (permuted P ≤ 0.011), but again, gene-based analyses showed no consistent driver gene associations. Conclusions:Collectively, testosterone metabolism pathway SNPs were consistently associated with the high-tension subtype of POAG in two datasets.
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- 2018
27. Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets.
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Bailey, Jessica N Cooke, Gharahkhani, Puya, Kang, Jae H, Butkiewicz, Mariusz, Sullivan, David A, Weinreb, Robert N, Aschard, Hugues, Allingham, R Rand, Ashley-Koch, Allison, Lee, Richard K, Moroi, Sayoko E, Brilliant, Murray H, Wollstein, Gadi, Schuman, Joel S, Fingert, John H, Budenz, Donald L, Realini, Tony, Gaasterland, Terry, Scott, William K, Singh, Kuldev, Sit, Arthur J, Igo, Robert P, Song, Yeunjoo E, Hark, Lisa, Ritch, Robert, Rhee, Douglas J, Vollrath, Douglas, Zack, Donald J, Medeiros, Felipe, Vajaranant, Thasarat S, Chasman, Daniel I, Christen, William G, Pericak-Vance, Margaret A, Liu, Yutao, Kraft, Peter, Richards, Julia E, Rosner, Bernard A, Hauser, Michael A, Craig, Jamie E, Burdon, Kathryn P, Hewitt, Alex W, Mackey, David A, Haines, Jonathan L, MacGregor, Stuart, Wiggs, Janey L, Pasquale, Louis R, and Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium
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Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium ,Humans ,Glaucoma ,Open-Angle ,Testosterone ,Intraocular Pressure ,Gene Frequency ,Genotype ,Polymorphism ,Single Nucleotide ,Middle Aged ,Female ,Male ,Metabolic Networks and Pathways ,Genome-Wide Association Study ,Low Tension Glaucoma ,Datasets as Topic ,primary open-angle glaucoma ,testosterone ,genetics ,pathway analysis ,Glaucoma ,Open-Angle ,Polymorphism ,Single Nucleotide ,Biological Sciences ,Medical and Health Sciences ,Ophthalmology & Optometry - Abstract
Purpose:Sex hormones may be associated with primary open-angle glaucoma (POAG), although the mechanisms are unclear. We previously observed that gene variants involved with estrogen metabolism were collectively associated with POAG in women but not men; here we assessed gene variants related to testosterone metabolism collectively and POAG risk. Methods:We used two datasets: one from the United States (3853 cases and 33,480 controls) and another from Australia (1155 cases and 1992 controls). Both datasets contained densely called genotypes imputed to the 1000 Genomes reference panel. We used pathway- and gene-based approaches with Pathway Analysis by Randomization Incorporating Structure (PARIS) software to assess the overall association between a panel of single nucleotide polymorphisms (SNPs) in testosterone metabolism genes and POAG. In sex-stratified analyses, we evaluated POAG overall and POAG subtypes defined by maximum IOP (high-tension [HTG] or normal tension glaucoma [NTG]). Results:In the US dataset, the SNP panel was not associated with POAG (permuted P = 0.77), although there was an association in the Australian sample (permuted P = 0.018). In both datasets, the SNP panel was associated with POAG in men (permuted P ≤ 0.033) and not women (permuted P ≥ 0.42), but in gene-based analyses, there was no consistency on the main genes responsible for these findings. In both datasets, the testosterone pathway association with HTG was significant (permuted P ≤ 0.011), but again, gene-based analyses showed no consistent driver gene associations. Conclusions:Collectively, testosterone metabolism pathway SNPs were consistently associated with the high-tension subtype of POAG in two datasets.
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- 2018
28. Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis
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Aschard, Hugues, Kang, Jae H, Iglesias, Adriana I, Hysi, Pirro, Cooke Bailey, Jessica N, Khawaja, Anthony P, Allingham, R Rand, Ashley-Koch, Allison, Lee, Richard K, Moroi, Sayoko E, Brilliant, Murray H, Wollstein, Gadi, Schuman, Joel S, Fingert, John H, Budenz, Donald L, Realini, Tony, Gaasterland, Terry, Scott, William K, Singh, Kuldev, Sit, Arthur J, Igo Jr, Robert P, Song, Yeunjoo E, Hark, Lisa, Ritch, Robert, Rhee, Douglas J, Gulati, Vikas, Haven, Shane, Vollrath, Douglas, Zack, Donald J, Medeiros, Felipe, Weinreb, Robert N, Cheng, Ching-Yu, Chasman, Daniel I, Christen, William G, Pericak-Vance, Margaret A, Liu, Yutao, Kraft, Peter, Richards, Julia E, Rosner, Bernard A, Hauser, Michael A, Klaver, Caroline CW, vanDuijn, Cornelia M, Haines, Jonathan, Wiggs, Janey L, and Pasquale, Louis R
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Ophthalmology and Optometry ,Eye Disease and Disorders of Vision ,Human Genome ,Aging ,Neurodegenerative ,Neurosciences ,Blood Pressure ,Female ,Genetic Predisposition to Disease ,Glaucoma ,Open-Angle ,Humans ,Intraocular Pressure ,Linkage Disequilibrium ,Male ,International Glaucoma Genetics Consortium ,Clinical Sciences ,Genetics & Heredity ,Clinical sciences - Abstract
Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP), while the relation between BP and POAG is controversial. The International Glaucoma Genetics Consortium (n=27 558), the International Consortium on Blood Pressure (n=69 395), and the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (n=37 333), represent genome-wide data sets for IOP, BP traits and POAG, respectively. We formed genome-wide significant variant panels for IOP and diastolic BP and found a strong relation with POAG (odds ratio and 95% confidence interval: 1.18 (1.14-1.21), P=1.8 × 10-27) for the former trait but no association for the latter (P=0.93). Next, we used linkage disequilibrium (LD) score regression, to provide genome-wide estimates of correlation between traits without the need for additional phenotyping. We also compared our genome-wide estimate of heritability between IOP and BP to an estimate based solely on direct measures of these traits in the Erasmus Rucphen Family (ERF; n=2519) study using Sequential Oligogenic Linkage Analysis Routines (SOLAR). LD score regression revealed high genetic correlation between IOP and POAG (48.5%, P=2.1 × 10-5); however, genetic correlation between IOP and diastolic BP (P=0.86) and between diastolic BP and POAG (P=0.42) were negligible. Using SOLAR in the ERF study, we confirmed the minimal heritability between IOP and diastolic BP (P=0.63). Overall, IOP shares genetic basis with POAG, whereas BP has limited shared genetic correlation with IOP or POAG.
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- 2017
29. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
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Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, Schlötzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert P, Haripriya, Aravind, Williams, Susan E, Astakhov, Yury S, Orr, Andrew C, Burdon, Kathryn P, Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica N Cooke, Cherecheanu, Alina Popa, Kang, Jae H, Nelson, Sarah, Hayashi, Ken, Manabe, Shin-ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S Fabian, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Kenji, Zenteno, Juan C, Jonas, Jost B, Kumar, Rajesh S, Perera, Shamira A, Chan, Anita SY, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak P, de Juan Marcos, Lourdes, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda L, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan R, Beni, Afsaneh Naderi, and Yazdani, Shahin
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Prevention ,Human Genome ,Rare Diseases ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Aged ,80 and over ,Alleles ,Amino Acid Oxidoreductases ,Amino Acid Substitution ,Asian People ,Calcium Channels ,Cell Adhesion ,Exfoliation Syndrome ,Extracellular Matrix ,Eye ,Female ,Gene Expression Profiling ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Haplotypes ,Humans ,Male ,Molecular Chaperones ,Mutation ,Missense ,Point Mutation ,RNA ,Messenger ,Spheroids ,Cellular ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10-14) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10-8). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.
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- 2017
30. Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample
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Pasquale, Louis R, Aschard, Hugues, Kang, Jae H, Bailey, Jessica N Cooke, Lindström, Sara, Chasman, Daniel I, Christen, William G, Allingham, R Rand, Ashley-Koch, Allison, Lee, Richard K, Moroi, Sayoko E, Brilliant, Murray H, Wollstein, Gadi, Schuman, Joel S, Fingert, John, Budenz, Donald L, Realini, Tony, Gaasterland, Terry, Gaasterland, Douglas, Scott, William K, Singh, Kuldev, Sit, Arthur J, Igo, Robert P, Song, Yeunjoo E, Hark, Lisa, Ritch, Robert, Rhee, Douglas J, Gulati, Vikas, Havens, Shane, Vollrath, Douglas, Zack, Donald J, Medeiros, Felipe, Weinreb, Robert N, Pericak-Vance, Margaret A, Liu, Yutao, Kraft, Peter, Richards, Julia E, Rosner, Bernard A, Hauser, Michael A, Haines, Jonathan L, and Wiggs, Janey L
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Epidemiology ,Biomedical and Clinical Sciences ,Health Sciences ,Ophthalmology and Optometry ,Human Genome ,Neurosciences ,Neurodegenerative ,Genetics ,Eye Disease and Disorders of Vision ,Aging ,Good Health and Well Being ,Age Factors ,Female ,Genetic Variation ,Genotype ,Glaucoma ,Open-Angle ,Humans ,Menopause ,Middle Aged ,Risk Assessment ,Risk Factors ,United States ,Age at natural menopause ,Genetic risk score ,Primary open-angle glaucoma ,Medical and Health Sciences ,Obstetrics & Reproductive Medicine ,Biomedical and clinical sciences ,Health sciences ,Psychology - Abstract
ObjectiveSeveral attributes of female reproductive history, including age at natural menopause (ANM), have been related to primary open-angle glaucoma (POAG). We assembled 18 previously reported common genetic variants that predict ANM to determine their association with ANM or POAG.MethodsUsing data from the Nurses' Health Study (7,143 women), we validated the ANM weighted genetic risk score in relation to self-reported ANM. Subsequently, to assess the relation with POAG, we used data from 2,160 female POAG cases and 29,110 controls in the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (NEIGHBORHOOD), which consists of 8 datasets with imputed genotypes to 5.6+ million markers. Associations with POAG were assessed in each dataset, and site-specific results were meta-analyzed using the inverse weighted variance method.ResultsThe genetic risk score was associated with self-reported ANM (P = 2.2 × 10) and predicted 4.8% of the variance in ANM. The ANM genetic risk score was not associated with POAG (Odds Ratio (OR) = 1.002; 95% Confidence Interval (CI): 0.998, 1.007; P = 0.28). No single genetic variant in the panel achieved nominal association with POAG (P ≥0.20). Compared to the middle 80 percent, there was also no association with the lowest 10 percentile or highest 90 percentile of genetic risk score with POAG (OR = 0.75; 95% CI: 0.47, 1.21; P = 0.23 and OR = 1.10; 95% CI: 0.72, 1.69; P = 0.65, respectively).ConclusionsA genetic risk score predicting 4.8% of ANM variation was not related to POAG; thus, genetic determinants of ANM are unlikely to explain the previously reported association between the two phenotypes.
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- 2017
31. Risk of COVID-19 among front-line health-care workers and the general community: a prospective cohort study
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Albert, Christine M., Andreotti, Gabriella, Bala, Bijal, Balasubramanian, Bijal A., Beane-Freeman, Laura E., Brownstein, John S., Bruinsma, Fiona J., Coresh, Joe, Costa, Rui, Cowan, Annie N., Deka, Anusila, Deming-Halverson, Sandra L., Elena Martinez, Maria, Ernst, Michael E., Figueiredo, Jane C., Fortuna, Pedro, Franks, Paul W., Freeman, Laura Beane, Gardner, Christopher D., Ghobrial, Irene M., Haiman, Christopher A., Hall, Janet E., Kang, Jae H., Kirpach, Brenda, Koenen, Karestan C., Kubzansky, Laura D., Lacey, Jr, James V., Le Marchand, Loic, Lin, Xihong, Lutsey, Pam, Marinac, Catherine R., Martinez, Maria Elena, Milne, Roger L., Murray, Anne M., Nash, Denis, Palmer, Julie R., Patel, Alpa V., Pierce, Eric, Robertson, McKaylee M., Rosenberg, Lynn, Sandler, Dale P., Schurman, Shepherd H., Sewalk, Kara, Sharma, Shreela V., Sidey-Gibbons, Christopher J., Slevin, Liz, Smoller, Jordan W.., Steves, Claire J., Tiirikainen, Maarit I., Weiss, Scott T., Wilkens, Lynne R., Zhang, Feng, Nguyen, Long H, Drew, David A, Graham, Mark S, Joshi, Amit D, Guo, Chuan-Guo, Ma, Wenjie, Mehta, Raaj S, Warner, Erica T, Sikavi, Daniel R, Lo, Chun-Han, Kwon, Sohee, Song, Mingyang, Mucci, Lorelei A, Stampfer, Meir J, Willett, Walter C, Eliassen, A Heather, Hart, Jaime E, Chavarro, Jorge E, Rich-Edwards, Janet W, Davies, Richard, Capdevila, Joan, Lee, Karla A, Lochlainn, Mary Ni, Varsavsky, Thomas, Sudre, Carole H, Cardoso, M Jorge, Wolf, Jonathan, Spector, Tim D, Ourselin, Sebastien, Steves, Claire J, and Chan, Andrew T
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- 2020
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32. Apolipoprotein E and Its Association With Cognitive Change and Modification of Treatment Effects of Vitamin D3 and Omega-3s on Cognitive Change: Results From the In-Clinic Subset of a Randomized Clinical Trial.
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Vyas, Chirag M, Kang, Jae H, Mischoulon, David, Cook, Nancy R, III, Charles F Reynolds, Chang, Grace, Mora, Samia, Vivo, Immaculata De, Manson, JoAnn E, and Okereke, Olivia I
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CHOLECALCIFEROL , *APOLIPOPROTEIN E , *CLINICAL trials , *EPISODIC memory , *EXECUTIVE function , *OLDER people - Abstract
Background Apolipoprotein E (APOE)-ε4 allele is associated with cognitive decline; however, its potential to modify effects of vitamin D3 and omega-3s supplementation on later-life cognition is unclear. Our objectives were to estimate among the in-clinic subset of a randomized trial: (1) associations between APOE-ε4 and global and domain-specific cognitive change, with exploration of potential sex and race differences; and (2) modification by APOE-ε4 of effects of vitamin D3 and omega-3s supplementation on cognitive change. Methods From an ancillary study of depression prevention within a completed 2 × 2 factorial trial testing vitamin D3 (2 000 IU per day), omega-3s (1 g per day), and/or placebos, we included 743 older adults with baseline in-person neuropsychiatric assessments and APOE genotyping data. The primary outcome was change in global cognition (averaging z -scores of 9 tests) over 2 years. Secondarily, episodic memory and executive function/attention z -scores were examined. General linear models of response profiles with multiplicative interaction terms were constructed; stratified results were reported. Results Mean age (standard deviation) was 67.1 (5.3) years; 50.6% were females; 24.9% were APOE-ε4 carriers. Compared to noncarriers, APOE-ε4 carriers had worse 2-year change in global cognition and episodic memory; differences were more apparent among females than males. There was no variation by race in APOE-ε4 associations with cognition. APOE-ε4 did not significantly modify effects of vitamin D3 or omega-3s, compared to placebo, on change in global cognition, episodic memory, or executive function/attention. Conclusions APOE-ε4 was associated with worse cognition but did not modify overall effects of vitamin D3 or omega-3 supplementation on cognition over 2 years. [ABSTRACT FROM AUTHOR]
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- 2024
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33. Effect of vitamin D on cognitive decline: results from two ancillary studies of the VITAL randomized trial
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Kang, Jae H., Vyas, Chirag M., Okereke, Olivia I., Ogata, Soshiro, Albert, Michelle, Lee, I.-Min, D’Agostino, Denise, Buring, Julie E., Cook, Nancy R., Grodstein, Francine, and Manson, JoAnn E.
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- 2021
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34. A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD ConsortiumAssociation of miR-182 and POAG in NEIGHBORHOOD
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Liu, Yutao, Bailey, Jessica Cooke, Helwa, Inas, Dismuke, W Michael, Cai, Jingwen, Drewry, Michelle, Brilliant, Murray H, Budenz, Donald L, Christen, William G, Chasman, Daniel I, Fingert, John H, Gaasterland, Douglas, Gaasterland, Terry, Gordon, Mae O, Igo, Robert P, Kang, Jae H, Kass, Michael A, Kraft, Peter, Lee, Richard K, Lichter, Paul, Moroi, Sayoko E, Realini, Anthony, Richards, Julia E, Ritch, Robert, Schuman, Joel S, Scott, William K, Singh, Kuldev, Sit, Arthur J, Song, Yeunjoo E, Vollrath, Douglas, Weinreb, Robert, Medeiros, Felipe, Wollstein, Gadi, Zack, Donald J, Zhang, Kang, Pericak-Vance, Margaret A, Gonzalez, Pedro, Stamer, W Daniel, Kuchtey, John, Kuchtey, Rachel W, Allingham, R Rand, Hauser, Michael A, Pasquale, Louis R, Haines, Jonathan L, and Wiggs, Janey L
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Neurosciences ,Aging ,Genetics ,Neurodegenerative ,Eye Disease and Disorders of Vision ,Biotechnology ,Human Genome ,2.1 Biological and endogenous factors ,geographic atrophy ,age-related macular degeneration ,animal models ,Aqueous Humor ,Humans ,Glaucoma ,Open-Angle ,Genetic Predisposition to Disease ,MicroRNAs ,RNA ,Polymerase Chain Reaction ,Gene Expression Regulation ,Intraocular Pressure ,Gene Frequency ,Genotype ,Alleles ,Aged ,Aged ,80 and over ,Middle Aged ,Female ,Male ,Exosomes ,Biological Sciences ,Medical and Health Sciences ,Ophthalmology & Optometry - Abstract
PurposeNoncoding microRNAs (miRNAs) have been implicated in the pathogenesis of glaucoma. We aimed to identify common variants in miRNA coding genes (MIR) associated with primary open-angle glaucoma (POAG).MethodsUsing the NEIGHBORHOOD data set (3853 cases/33,480 controls with European ancestry), we first assessed the relation between 85 variants in 76 MIR genes and overall POAG. Subtype-specific analyses were performed in high-tension glaucoma (HTG) and normal-tension glaucoma subsets. Second, we examined the expression of miR-182, which was associated with POAG, in postmortem human ocular tissues (ciliary body, cornea, retina, and trabecular meshwork [TM]), using miRNA sequencing (miRNA-Seq) and droplet digital PCR (ddPCR). Third, miR-182 expression was also examined in human aqueous humor (AH) by using miRNA-Seq. Fourth, exosomes secreted from primary human TM cells were examined for miR-182 expression by using miRNA-Seq. Fifth, using ddPCR we compared miR-182 expression in AH between five HTG cases and five controls.ResultsOnly rs76481776 in MIR182 gene was associated with POAG after adjustment for multiple comparisons (odds ratio [OR] = 1.23, 95% confidence interval [CI]: 1.11-1.42, P = 0.0002). Subtype analysis indicated that the association was primarily in the HTG subset (OR = 1.26, 95% CI: 1.08-1.47, P = 0.004). The risk allele T has been associated with elevated miR-182 expression in vitro. Data from ddPCR and miRNA-Seq confirmed miR-182 expression in all examined ocular tissues and TM-derived exosomes. Interestingly, miR-182 expression in AH was 2-fold higher in HTG patients than nonglaucoma controls (P = 0.03) without controlling for medication treatment.ConclusionsOur integrative study is the first to associate rs76481776 with POAG via elevated miR-182 expression.
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- 2016
35. Erratum.
- Author
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Liu, Yutao, Bailey, Jessica Cooke, Helwa, Inas, Dismuke, W Michael, Cai, Jingwen, Drewry, Michelle, Brilliant, Murray H, Budenz, Donald L, Christen, William G, Chasman, Daniel I, Fingert, John H, Gaasterland, Douglas, Gaasterland, Terry, Gordon, Mae O, Igo, Robert P, Kang, Jae H, Kass, Michael A, Kraft, Peter, Lee, Richard K, Lichter, Paul, Moroi, Sayoko E, Realini, Anthony, Richards, Julia E, Ritch, Robert, Schuman, Joel S, Scott, William K, Singh, Kuldev, Sit, Arthur J, Song, Yeunjoo E, Vollrath, Douglas, Weinreb, Robert, Medeiros, Felipe, Wollstein, Gadi, Zack, Donald J, Zhang, Kang, Pericak-Vance, Margaret A, Gonzalez, Pedro, Stamer, W Daniel, Kuchtey, John, Kuchtey, Rachel W, Allingham, R Rand, Hauser, Michael A, Pasquale, Louis R, Haines, Jonathan L, and Wiggs, Janey L
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Ophthalmology & Optometry ,Biological Sciences ,Medical and Health Sciences - Published
- 2016
36. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma
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Bailey, Jessica N Cooke, Loomis, Stephanie J, Kang, Jae H, Allingham, R Rand, Gharahkhani, Puya, Khor, Chiea Chuen, Burdon, Kathryn P, Aschard, Hugues, Chasman, Daniel I, Igo, Robert P, Hysi, Pirro G, Glastonbury, Craig A, Ashley-Koch, Allison, Brilliant, Murray, Brown, Andrew A, Budenz, Donald L, Buil, Alfonso, Cheng, Ching-Yu, Choi, Hyon, Christen, William G, Curhan, Gary, De Vivo, Immaculata, Fingert, John H, Foster, Paul J, Fuchs, Charles, Gaasterland, Douglas, Gaasterland, Terry, Hewitt, Alex W, Hu, Frank, Hunter, David J, Khawaja, Anthony P, Lee, Richard K, Li, Zheng, Lichter, Paul R, Mackey, David A, McGuffin, Peter, Mitchell, Paul, Moroi, Sayoko E, Perera, Shamira A, Pepper, Keating W, Qi, Qibin, Realini, Tony, Richards, Julia E, Ridker, Paul M, Rimm, Eric, Ritch, Robert, Ritchie, Marylyn, Schuman, Joel S, Scott, William K, Singh, Kuldev, Sit, Arthur J, Song, Yeunjoo E, Tamimi, Rulla M, Topouzis, Fotis, Viswanathan, Ananth C, Verma, Shefali Setia, Vollrath, Douglas, Wang, Jie Jin, Weisschuh, Nicole, Wissinger, Bernd, Wollstein, Gadi, Wong, Tien Y, Yaspan, Brian L, Zack, Donald J, Zhang, Kang, Study, EPIC-Norfolk Eye, Weinreb, Robert N, Pericak-Vance, Margaret A, Small, Kerrin, Hammond, Christopher J, Aung, Tin, Liu, Yutao, Vithana, Eranga N, MacGregor, Stuart, Craig, Jamie E, Kraft, Peter, Howell, Gareth, Hauser, Michael A, Pasquale, Louis R, Haines, Jonathan L, and Wiggs, Janey L
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Biological Sciences ,Genetics ,Eye Disease and Disorders of Vision ,Neurodegenerative ,Neurosciences ,Human Genome ,Aging ,Eye ,Ataxin-2 ,Forkhead Transcription Factors ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Glaucoma ,Open-Angle ,Humans ,Polymorphism ,Single Nucleotide ,Thioredoxin Reductase 2 ,ANZRAG Consortium ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. To identify new susceptibility loci, we performed meta-analysis on genome-wide association study (GWAS) results from eight independent studies from the United States (3,853 cases and 33,480 controls) and investigated the most significantly associated SNPs in two Australian studies (1,252 cases and 2,592 controls), three European studies (875 cases and 4,107 controls) and a Singaporean Chinese study (1,037 cases and 2,543 controls). A meta-analysis of the top SNPs identified three new associated loci: rs35934224[T] in TXNRD2 (odds ratio (OR) = 0.78, P = 4.05 × 10(-11)) encoding a mitochondrial protein required for redox homeostasis; rs7137828[T] in ATXN2 (OR = 1.17, P = 8.73 × 10(-10)); and rs2745572[A] upstream of FOXC1 (OR = 1.17, P = 1.76 × 10(-10)). Using RT-PCR and immunohistochemistry, we show TXNRD2 and ATXN2 expression in retinal ganglion cells and the optic nerve head. These results identify new pathways underlying POAG susceptibility and suggest new targets for preventative therapies.
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- 2016
37. Apolipoprotein E and its association with cognitive change and modification of treatment effects of vitamin D3 and omega-3s on cognitive change: results from the in-clinic subset of a randomized clinical trial
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Vyas, Chirag M, primary, Kang, Jae H, additional, Mischoulon, David, additional, Cook, Nancy R, additional, Reynolds, Charles F, additional, Chang, Grace, additional, Mora, Samia, additional, De Vivo, Immaculata, additional, Manson, Jo Ann E, additional, and Okereke, Olivia I, additional
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- 2023
- Full Text
- View/download PDF
38. Marine n−3 Fatty Acids and Prevention of Cardiovascular Disease: A Novel Analysis of the VITAL Trial Using Win Ratio and Hierarchical Composite Outcomes
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Ogata, Soshiro, primary, Manson, JoAnn E., additional, Kang, Jae H., additional, Buring, Julie E., additional, Lee, I-Min, additional, Nishimura, Kunihiro, additional, Sakata, Yasuhiko, additional, Danik, Jacqueline Suk, additional, D’Agostino, Denise, additional, Mora, Samia, additional, Albert, Christine M., additional, and Cook, Nancy R., additional
- Published
- 2023
- Full Text
- View/download PDF
39. Association Between Bowel-Movement Pattern and Cognitive Function: Prospective Cohort Study and a Metagenomic Analysis of the Gut Microbiome
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Ma, Chaoran, primary, Li, Yanping, additional, Mei, Zhendong, additional, Yuan, Changzheng, additional, Kang, Jae H, additional, Grodstein, Fran, additional, Ascherio, Alberto, additional, Willett, Walter C, additional, Chan, Andrew T, additional, Huttenhower, Curtis, additional, Stampfer, Meir J, additional, and Wang, Dong, additional
- Published
- 2023
- Full Text
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40. Low-carbohydrate-diet scores and the risk of primary open-angle glaucoma: data from three US cohorts
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Hanyuda, Akiko, Rosner, Bernard A., Wiggs, Janey L., Willett, Walter C., Tsubota, Kazuo, Pasquale, Louis R., and Kang, Jae H.
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- 2020
- Full Text
- View/download PDF
41. DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle GlaucomaDNA Copy Number Variants in POAG
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Liu, Yutao, Garrett, Melanie E, Yaspan, Brian L, Bailey, Jessica Cooke, Loomis, Stephanie J, Brilliant, Murray, Budenz, Donald L, Christen, William G, Fingert, John H, Gaasterland, Douglas, Gaasterland, Terry, Kang, Jae H, Lee, Richard K, Lichter, Paul, Moroi, Sayoko E, Realini, Anthony, Richards, Julia E, Schuman, Joel S, Scott, William K, Singh, Kuldev, Sit, Arthur J, Vollrath, Douglas, Weinreb, Robert, Wollstein, Gadi, Zack, Donald J, Zhang, Kang, Pericak-Vance, Margaret A, Haines, Jonathan L, Pasquale, Louis R, Wiggs, Janey L, Allingham, R Rand, Ashley-Koch, Allison E, and Hauser, Michael A
- Subjects
Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Clinical Research ,Neurodegenerative ,Genetics ,Aged ,Aged ,80 and over ,Case-Control Studies ,DNA Copy Number Variations ,Eye Proteins ,Female ,Genetic Predisposition to Disease ,Genotype ,Glaucoma ,Open-Angle ,Humans ,Male ,Middle Aged ,DNA copy number variants ,POAG ,genetics ,SIX6 ,GAS7 ,Biological Sciences ,Medical and Health Sciences ,Ophthalmology & Optometry ,Ophthalmology and optometry - Abstract
PurposeWe examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG).MethodsOur study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with the Illumina Human660W_Quad_v1 BeadChip. After removing non-blood-derived and amplified DNA samples, we applied quality control steps based on the mean Log R Ratio and the mean B allele frequency. Subsequently, data from 3057 DNA samples (1599 cases and 1458 controls) were analyzed with PennCNV software. We defined CNVs as those ≥5 kilobases (kb) in size and interrogated by ≥5 consecutive probes. We further limited our investigation to CNVs in known POAG-related genes, including CDKN2B-AS1, TMCO1, SIX1/SIX6, CAV1/CAV2, the LRP12-ZFPM2 region, GAS7, ATOH7, FNDC3B, CYP1B1, MYOC, OPTN, WDR36, SRBD1, TBK1, and GALC.ResultsGenomic duplications of CDKN2B-AS1 and TMCO1 were each found in a single case. Two cases carried duplications in the GAS7 region. Genomic deletions of SIX6 and ATOH7 were each identified in one case. One case carried a TBK1 deletion and another case carried a TBK1 duplication. No controls had duplications or deletions in these six genes. A single control had a duplication in the MYOC region. Deletions of GALC were observed in five cases and two controls.ConclusionsThe CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.
- Published
- 2014
42. Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma
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Bailey, Jessica N Cooke, Yaspan, Brian L, Pasquale, Louis R, Hauser, Michael A, Kang, Jae H, Loomis, Stephanie J, Brilliant, Murray, Budenz, Donald L, Christen, William G, Fingert, John, Gaasterland, Douglas, Gaasterland, Terry, Kraft, Peter, Lee, Richard K, Lichter, Paul R, Liu, Yutao, McCarty, Catherine A, Moroi, Sayoko E, Richards, Julia E, Realini, Tony, Schuman, Joel S, Scott, William K, Singh, Kuldev, Sit, Arthur J, Vollrath, Douglas, Wollstein, Gadi, Zack, Donald J, Zhang, Kang, Pericak-Vance, Margaret A, Allingham, R Rand, Weinreb, Robert N, Haines, Jonathan L, and Wiggs, Janey L
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Aging ,Clinical Research ,Neurosciences ,Eye Disease and Disorders of Vision ,Human Genome ,Neurodegenerative ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Eye ,Acetyl Coenzyme A ,Case-Control Studies ,Cluster Analysis ,Female ,Genetic Predisposition to Disease ,Glaucoma ,Glaucoma ,Open-Angle ,Humans ,Intraocular Pressure ,Male ,Metabolic Networks and Pathways ,Models ,Genetic ,Polymorphism ,Single Nucleotide ,gamma-Aminobutyric Acid ,Complementary and Alternative Medicine ,Paediatrics and Reproductive Medicine ,Genetics & Heredity - Abstract
Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. Using genome-wide association single-nucleotide polymorphism data from the Glaucoma Genes and Environment study and National Eye Institute Glaucoma Human Genetics Collaboration comprising 3,108 cases and 3,430 controls, we assessed biologic pathways as annotated in the KEGG database for association with risk of POAG. After correction for genic overlap among pathways, we found 4 pathways, butanoate metabolism (hsa00650), hematopoietic cell lineage (hsa04640), lysine degradation (hsa00310) and basal transcription factors (hsa03022) related to POAG with permuted p
- Published
- 2014
43. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
- Author
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Springelkamp, Henriët, Höhn, René, Mishra, Aniket, Hysi, Pirro G, Khor, Chiea-Chuen, Loomis, Stephanie J, Bailey, Jessica N Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F, Luo, Xiaoyan, Ramdas, Wishal D, Vithana, Eranga, Nongpiur, Monisha E, Montgomery, Grant W, Xu, Liang, Mountain, Jenny E, Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C, Sim, Kar-Seng, van Leeuwen, Elisabeth M, Iglesias, Adriana I, Verhoeven, Virginie JM, Hauser, Michael A, Loon, Seng-Chee, Despriet, Dominiek DG, Nag, Abhishek, Venturini, Cristina, Sanfilippo, Paul G, Schillert, Arne, Kang, Jae H, Landers, John, Jonasson, Fridbert, Cree, Angela J, van Koolwijk, Leonieke ME, Rivadeneira, Fernando, Souzeau, Emmanuelle, Jonsson, Vesteinn, Menon, Geeta, Blue Mountains Eye Study—GWAS group, Weinreb, Robert N, de Jong, Paulus TVM, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Ennis, Sarah, Thorsteinsdottir, Unnur, Burdon, Kathryn P, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Spector, Timothy D, Mirshahi, Alireza, Saw, Seang-Mei, Vingerling, Johannes R, Teo, Yik-Ying, Haines, Jonathan L, Wolfs, Roger CW, Lemij, Hans G, Tai, E-Shyong, Jansonius, Nomdo M, Jonas, Jost B, Cheng, Ching-Yu, Aung, Tin, Viswanathan, Ananth C, Klaver, Caroline CW, Craig, Jamie E, Macgregor, Stuart, Mackey, David A, Lotery, Andrew J, Stefansson, Kari, Bergen, Arthur AB, Young, Terri L, Wiggs, Janey L, Pfeiffer, Norbert, Wong, Tien-Yin, Pasquale, Louis R, Hewitt, Alex W, van Duijn, Cornelia M, and Hammond, Christopher J
- Subjects
Blue Mountains Eye Study—GWAS group ,NEIGHBORHOOD Consortium ,Wellcome Trust Case Control Consortium 2 ,Optic Nerve ,Optic Disk ,Humans ,Glaucoma ,Case-Control Studies ,Gene Expression Profiling ,Gene Frequency ,Genotype ,Phenotype ,Polymorphism ,Single Nucleotide ,Asian Continental Ancestry Group ,European Continental Ancestry Group ,Genome-Wide Association Study ,Polymorphism ,Single Nucleotide ,Human Genome ,Genetics ,Neurodegenerative ,Eye Disease and Disorders of Vision ,Neurosciences ,2.1 Biological and endogenous factors ,Eye - Abstract
Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.
- Published
- 2014
44. Polygenic scores, diet quality, and type 2 diabetes risk: An observational study among 35,759 adults from 3 US cohorts
- Author
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Merino, Jordi, Guasch-Ferré, Marta, Li, Jun, Chung, Wonil, Hu, Yang, Ma, Baoshan, Li, Yanping, Kang, Jae H., Kraft, Peter, Liang, Liming, Sun, Qi, Franks, Paul W., Manson, JoAnn E., Willet, Walter C., Florez, Jose C., and Hu, Frank B.
- Subjects
Life style -- Health aspects ,Type 2 diabetes -- Risk factors -- Genetic aspects -- Prevention ,Food habits -- Health aspects ,Biological sciences - Abstract
Background Both genetic and lifestyle factors contribute to the risk of type 2 diabetes, but the extent to which there is a synergistic effect of the 2 factors is unclear. The aim of this study was to examine the joint associations of genetic risk and diet quality with incident type 2 diabetes. Methods and findings We analyzed data from 35,759 men and women in the United States participating in the Nurses' Health Study (NHS) I (1986 to 2016) and II (1991 to 2017) and the Health Professionals Follow-up Study (HPFS; 1986 to 2016) with available genetic data and who did not have diabetes, cardiovascular disease, or cancer at baseline. Genetic risk was characterized using both a global polygenic score capturing overall genetic risk and pathway-specific polygenic scores denoting distinct pathophysiological mechanisms. Diet quality was assessed using the Alternate Healthy Eating Index (AHEI). Cox models were used to calculate hazard ratios (HRs) for type 2 diabetes after adjusting for potential confounders. With over 902,386 person-years of follow-up, 4,433 participants were diagnosed with type 2 diabetes. The relative risk of type 2 diabetes was 1.29 (95% confidence interval [CI] 1.25, 1.32; P < 0.001) per standard deviation (SD) increase in global polygenic score and 1.13 (1.09, 1.17; P < 0.001) per 10-unit decrease in AHEI. Irrespective of genetic risk, low diet quality, as compared to high diet quality, was associated with approximately 30% increased risk of type 2 diabetes (P.sub.interaction = 0.69). The joint association of low diet quality and increased genetic risk was similar to the sum of the risk associated with each factor alone (P.sub.interaction = 0.30). Limitations of this study include the self-report of diet information and possible bias resulting from inclusion of highly educated participants with available genetic data. Conclusions These data provide evidence for the independent associations of genetic risk and diet quality with incident type 2 diabetes and suggest that a healthy diet is associated with lower diabetes risk across all levels of genetic risk., Author(s): Jordi Merino 1,2,3,*, Marta Guasch-Ferré 4,5, Jun Li 4,6, Wonil Chung 6,7, Yang Hu 4, Baoshan Ma 6,7, Yanping Li 4, Jae H. Kang 5, Peter Kraft 6,8,9, Liming [...]
- Published
- 2022
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45. Diet quality and genetic association with body mass index: results from 3 observational studies
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Ding, Ming, Ellervik, Christina, Huang, Tao, Jensen, Majken K, Curhan, Gary C, Pasquale, Louis R, Kang, Jae H, Wiggs, Janey L, Hunter, David J, Willett, Walter C, Rimm, Eric B, Kraft, Peter, Chasman, Daniel I, Qi, Lu, Hu, Frank B, and Qi, Qibin
- Published
- 2018
- Full Text
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46. Association of CAV1/CAV2 Genomic Variants with Primary Open-Angle Glaucoma Overall and by Gender and Pattern of Visual Field Loss
- Author
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Loomis, Stephanie J, Kang, Jae H, Weinreb, Robert N, Yaspan, Brian L, Bailey, Jessica N Cooke, Gaasterland, Douglas, Gaasterland, Terry, Lee, Richard K, Lichter, Paul R, Budenz, Donald L, Liu, Yutao, Realini, Tony, Friedman, David S, McCarty, Catherine A, Moroi, Sayoko E, Olson, Lana, Schuman, Joel S, Singh, Kuldev, Vollrath, Douglas, Wollstein, Gadi, Zack, Donald J, Brilliant, Murray, Sit, Arthur J, Christen, William G, Fingert, John, Kraft, Peter, Zhang, Kang, Allingham, R Rand, Pericak-Vance, Margaret A, Richards, Julia E, Hauser, Michael A, Haines, Jonathan L, Pasquale, Louis R, and Wiggs, Janey L
- Subjects
Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Eye Disease and Disorders of Vision ,Genetics ,Aging ,Neurodegenerative ,Neurosciences ,Clinical Research ,Aged ,Case-Control Studies ,Caveolin 1 ,Caveolin 2 ,Female ,Genomic Structural Variation ,Genotype ,Glaucoma ,Open-Angle ,Humans ,Intraocular Pressure ,Male ,Middle Aged ,Polymorphism ,Single Nucleotide ,Sex Factors ,Vision Disorders ,Visual Fields ,Clinical Sciences ,Opthalmology and Optometry ,Public Health and Health Services ,Ophthalmology & Optometry ,Ophthalmology and optometry - Abstract
PurposeThe CAV1/CAV2 (caveolin 1 and caveolin 2) genomic region previously was associated with primary open-angle glaucoma (POAG), although replication among independent studies has been variable. The aim of this study was to assess the association between CAV1/CAV2 single nucleotide polymorphisms (SNPs) and POAG in a large case-control dataset and to explore associations by gender and pattern of visual field (VF) loss further.DesignCase-control study.ParticipantsWe analyzed 2 large POAG data sets: the Glaucoma Genes and Environment (GLAUGEN) study (976 cases, 1140 controls) and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium (2132 cases, 2290 controls).MethodsWe studied the association between 70 SNPs located within the CAV1/CAV2 genomic region in the GLAUGEN and NEIGHBOR studies, both genotyped on the Illumina Human 660WQuadv1C BeadChip array and imputed with the Markov Chain Haplotyping algorithm using the HapMap 3 reference panel. We used logistic regression models of POAG in the overall population and separated by gender, as well as by POAG subtypes defined by type of VF defect (peripheral or paracentral). Results from GLAUGEN and NEIGHBOR were meta-analyzed, and a Bonferroni-corrected significance level of 7.7 × 10(-4) was used to account for multiple comparisons.Main outcome measuresOverall POAG, overall POAG by gender, and POAG subtypes defined by pattern of early VF loss.ResultsWe found significant associations between 10 CAV1/CAV2 SNPs and POAG (top SNP, rs4236601; pooled P = 2.61 × 10(-7)). Of these, 9 were significant only in women (top SNP, rs4236601; pooled P = 1.59 × 10(-5)). Five of the 10 CAV1/CAV2 SNPs were associated with POAG with early paracentral VF (top SNP, rs17588172; pooled P = 1.07 × 10(-4)), and none of the 10 were associated with POAG with peripheral VF loss only or POAG among men.ConclusionsCAV1/CAV2 SNPs were associated significantly with POAG overall, particularly among women. Furthermore, we found an association between CAV1/CAV2 SNPs and POAG with paracentral VF defects. These data support a role for caveolin 1, caveolin 2, or both in POAG and suggest that the caveolins particularly may affect POAG pathogenesis in women and in patients with early paracentral VF defects.
- Published
- 2014
47. Post-traumatic stress disorder symptom remission and cognition in a large cohort of civilian women
- Author
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Liu, Jiaxuan, primary, Roberts, Andrea L., additional, Lawn, Rebecca B., additional, Jha, Shaili C., additional, Sampson, Laura, additional, Sumner, Jennifer A., additional, Kang, Jae H., additional, Rimm, Eric B., additional, Grodstein, Francine, additional, Liang, Liming, additional, Haneuse, Sebastien, additional, Kubzansky, Laura D., additional, Koenen, Karestan C., additional, and Chibnik, Lori B., additional
- Published
- 2023
- Full Text
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48. The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study
- Author
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Wiggs, Janey L, Hauser, Michael A, Abdrabou, Wael, Allingham, Robert Rand, Budenz, Donald L, DelBono, Elizabeth, Friedman, David S, Kang, Jae H, Gaasterland, Douglas, Gaasterland, Terry, Lee, Richard K, Lichter, Paul R, Loomis, Stephanie, Liu, Yutao, McCarty, Cathy, Medeiros, Felipe A, Moroi, Sayoko E, Olson, Lana M, Realini, Anthony, Richards, Julia E, Rozsa, Frank W, Schuman, Joel S, Singh, Kuldev, Stein, Joshua D, Vollrath, Douglas, Weinreb, Robert N, Wollstein, Gadi, Yaspan, Brian L, Yoneyama, Sachiko, Zack, Don, Zhang, Kang, Pericak-Vance, Margaret, Pasquale, Louis R, and Haines, Jonathan L
- Subjects
Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Human Genome ,Eye Disease and Disorders of Vision ,Aging ,Genetics ,Neurosciences ,Neurodegenerative ,Adult ,Aged ,Aged ,80 and over ,Antihypertensive Agents ,Case-Control Studies ,Cooperative Behavior ,Female ,Gene Expression Profiling ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Glaucoma ,Open-Angle ,Humans ,Intraocular Pressure ,Male ,Middle Aged ,Research Design ,Trabeculectomy ,primary open-angle glaucoma ,genome-wide association study ,genetics ,Clinical Sciences ,Ophthalmology & Optometry ,Ophthalmology and optometry - Abstract
Primary open-angle glaucoma (POAG) is a common disease with complex inheritance. The identification of genes predisposing to POAG is an important step toward the development of novel gene-based methods of diagnosis and treatment. Genome-wide association studies (GWAS) have successfully identified genes contributing to complex traits such as POAG however, such studies frequently require very large sample sizes, and thus, collaborations and consortia have been of critical importance for the GWAS approach. In this report we describe the formation of the NEIGHBOR consortium, the harmonized case control definitions used for a POAG GWAS, the clinical features of the cases and controls, and the rationale for the GWAS study design.
- Published
- 2013
49. Cohort Study of Non-melanoma Skin Cancer and the Risk of Exfoliation Glaucoma
- Author
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Kang, Jae H., VoPham, Trang, Laden, Francine, Rosner, Bernard A., Wirostko, Barbara, Ritch, Robert, Wiggs, Janey L., Qureshi, Abrar, Nan, Hongmei, and Pasquale, Louis R.
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- 2020
- Full Text
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50. Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States.
- Author
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Pasquale, Louis R, Loomis, Stephanie J, Weinreb, Robert N, Kang, Jae H, Yaspan, Brian L, Bailey, Jessica Cooke, Gaasterland, Douglas, Gaasterland, Terry, Lee, Richard K, Scott, William K, Lichter, Paul R, Budenz, Donald L, Liu, Yutao, Realini, Tony, Friedman, David S, McCarty, Catherine A, Moroi, Sayoko E, Olson, Lana, Schuman, Joel S, Singh, Kuldev, Vollrath, Douglas, Wollstein, Gadi, Zack, Donald J, Brilliant, Murray, Sit, Arthur J, Christen, William G, Fingert, John, Kraft, Peter, Zhang, Kang, Allingham, R Rand, Pericak-Vance, Margaret A, Richards, Julia E, Hauser, Michael A, Haines, Jonathan L, and Wiggs, Janey L
- Subjects
Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Aging ,Neurosciences ,Genetics ,Estrogen ,Eye Disease and Disorders of Vision ,Neurodegenerative ,Case-Control Studies ,Estrogens ,Female ,Genetic Predisposition to Disease ,Glaucoma ,Open-Angle ,Humans ,Intraocular Pressure ,Male ,Metabolic Networks and Pathways ,Polymorphism ,Single Nucleotide ,Sex Characteristics ,Signal Transduction ,United States ,Opthalmology and Optometry ,Ophthalmology & Optometry ,Ophthalmology and optometry - Abstract
PurposeCirculating estrogen levels are relevant in glaucoma phenotypic traits. We assessed the association between an estrogen metabolism single nucleotide polymorphism (SNP) panel in relation to primary open angle glaucoma (POAG), accounting for gender.MethodsWe included 3,108 POAG cases and 3,430 controls of both genders from the Glaucoma Genes and Environment (GLAUGEN) study and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium genotyped on the Illumina 660W-Quad platform. We assessed the relation between the SNP panels representative of estrogen metabolism and POAG using pathway- and gene-based approaches with the Pathway Analysis by Randomization Incorporating Structure (PARIS) software. PARIS executes a permutation algorithm to assess statistical significance relative to the pathways and genes of comparable genetic architecture. These analyses were performed using the meta-analyzed results from the GLAUGEN and NEIGHBOR data sets. We evaluated POAG overall as well as two subtypes of POAG defined as intraocular pressure (IOP) ≥22 mmHg (high-pressure glaucoma [HPG]) or IOP 0.99). Among women, gene-based analyses revealed that the catechol-O-methyltransferase gene showed strong associations with HTG (permuted gene p≤0.001) and NPG (permuted gene p=0.01).ConclusionsThe estrogen SNP pathway was associated with POAG among women.
- Published
- 2013
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