Article
Ophthalmology
Brian S. Cole, Harini V. Gudiseva, Maxwell Pistilli, Rebecca Salowe, Caitlin P. McHugh, Michael C. Zody, Venkata R. M. Chavali, Gui Shuang Ying, Jason H. Moore, Joan M. O'Brien
Summary: This study examines the association of autosomal ancestry with POAG risk in a large cohort of self-identified African Americans. The results show that a higher degree of African ancestry is associated with an increased risk of POAG. Additionally, it is found that both known POAG single nucleotide polymorphisms and an omnigenic ancestry effect influence POAG risk.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Article
Medicine, General & Internal
Brent Siesky, Alon Harris, Alice Verticchio Vercellin, Julia Arciero, Brendan Fry, George Eckert, Giovanna Guidoboni, Francesco Oddone, Gal Antman
Summary: This study examined the differences in ocular hemodynamic biomarkers between early open angle glaucoma (OAG) patients and healthy controls of African and European descent. The results showed that vascular densities were significantly lower in European OAG patients, while central macular vascular density was lower in African OAG patients. Macular and parafoveal thickness were also significantly lower in African OAG patients compared to European patients. Additionally, there was a negative correlation between intraocular pressure (IOP) and visual field index in African OAG patients, while a slightly positive relationship was observed in European patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Ophthalmology
Jing Na He, Tsz Kin Ng, Shi Yao Lu, Pancy Oi Sin Tam, Poemen P. Chan, Clement C. Tham, Chi Pui Pang, Li Jia Chen, Wai Kit Chu
Summary: This study investigated the association between the ANGPT2 gene and primary open-angle glaucoma (POAG) in the Chinese population. The results showed that the SNP rs11775442 was associated with normal tension glaucoma (NTG) in the Hong Kong cohort, while rs13269021 was associated with NTG in males in the Shantou cohort. Further studies are needed to confirm the association between the ANGPT2 locus and NTG in Chinese males.
Article
Medicine, General & Internal
Maria D. Pinazo-Duran, Vicente Zanon-Moreno, Carolina Garcia-Villanueva, Alessio Martucci, Cristina Peris-Martinez, Jorge Vila-Arteaga, Jose J. Garcia-Medina, Irene Andres-Blasco, Alex Gallego-Martinez, Carlo Nucci, Julian Garcia-Feijoo
Summary: Glaucoma is a chronic neurodegenerative disease and the leading cause of irreversible blindness worldwide. Finding new glaucoma biomarkers, especially in early stages, and monitoring treatment response are crucial for improving vision outcomes.
FRONTIERS IN MEDICINE
(2023)
Review
Genetics & Heredity
Grace Kuang, Rebecca Salowe, Joan O'Brien
Summary: Both AD and POAG are neurodegenerative diseases with complex pathophysiologies, and there are similarities between them at various aspects. Researchers have shown increasing interest in exploring the underlying connections between AD and POAG due to their resemblance in neurodegenerative processes. By studying a multitude of genes in each condition, with overlapping genes of interest, a better understanding of genetic factors can be achieved to identify relationships and common pathways of the diseases. Establishing a genetic connection between AD and POAG could lead to the development of targeted strategies for both diseases, benefitting researchers, clinicians, and patients. This paper aims to summarize the genetic associations between AD and POAG, discuss common mechanisms, explore potential applications, and provide a review.
Article
Ophthalmology
Pieter W. M. Bonnemaijer, Valeria Lo Faro, Anna J. Sanyiwa, Hassan G. Hassan, Colin Cook, Suzanne Van de Laar, Hans G. Lemij, Caroline C. W. Klaver, Nomdo M. Jansonius, Alberta A. H. J. Thiadens
Summary: In this study, significant differences were found in the presentation of POAG patients from different ethnic groups, with Sub-Saharan Africans presenting at a younger age with lower visual acuity, higher intraocular pressure, and larger vertical cup to disc ratio, indicating a more severe and destructive disease progression in this population.
ACTA OPHTHALMOLOGICA
(2021)
Article
Medicine, General & Internal
Antonio Maria Fea, Martina Menchini, Alessandro Rossi, Chiara Posarelli, Lorenza Malinverni, Michele Figus
Summary: The study investigated the efficacy and safety of the XEN63 implant in open-angle glaucoma patients, showing significant reduction in intraocular pressure and the need for hypotensive medications, with good short-term safety profile.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Ya-Hui Wei, Yu Cai, Bonnie N. K. Choy, Bai-Bing Li, Ruo-Shi Li, Chen Xing, Xia Wang, Tian Tian, Yuan Fang, Mei Li, Ying-Zi Pan
Summary: NTG patients showed higher DCR values compared to controls, with some DCRs being negatively correlated with CCT and IOP, while others were positively correlated with these factors. The cornea was more deformable in NTG compared to HTG or controls, indicating a potential biomechanical mechanism underlying glaucomatous optic neuropathy in NTG patients.
CHINESE MEDICAL JOURNAL
(2021)
Article
Medicine, General & Internal
Michele Lanza, Angelo Leone, Gabriele Scognamiglio, Luigi Serra, Clemente Maria Iodice, Paolo Melillo, Francesca Simonelli
Summary: This study found no significant differences in the efficacy of first-choice medications for primary open-angle glaucoma, but the efficacy may be influenced by various ocular and systemic features in different groups.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Faisal A. Almobarak, Ahmed Alrubean, Waleed Alsarhani, Abdullah Aljenaidel, Essam A. Osman
Summary: Ultrasound cyclo plasty (UCP) is effective in controlling intraocular pressure (IOP) and reducing the need for antiglaucoma medications in primary open-angle glaucoma (POAG) eyes. However, the success rate is modest, with higher baseline IOP and number of medications associated with a higher risk of failure.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Yong-Woo Kim, Eunoo Bak, Seoyoung Wy, Seung-Chan Lee, Yu-Jeong Kim, Young-Kook Kim, Ki-Ho Park, Jin-Wook Jeoung
Summary: ROCK gene polymorphisms are significantly associated with the risk of high-tension glaucoma, while ROCK2 gene is significantly correlated with phenotypes such as intraocular pressure and axial length.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Biology
Muhammad Yaqoob Shahani, Samreen Memon, Shakeel Ahmed Sheikh, Umbreen Bano, Pashmina Shaikh, Samina Gul Memon, Shazia Begum Shahani, Ikram Din Ujjan, Ashok Kumar Narsani, Ali Muhammad Waryah
Summary: This study conducted genetic association analysis on 25 families with primary open-angle glaucoma (POAG) and found a new POAG associated with a variant in the CYP1B1 gene, as well as a POAG associated with a variant in the Myoc gene. This indicates a high genetic heterogeneity among POAG patients in the southern province of Pakistan.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2023)
Review
Ophthalmology
Harathy Selvan, Shikha Gupta, Janey L. Wiggs, Viney Gupta
Summary: Juvenile-onset open-angle glaucoma (JOAG) is a specific type of glaucoma that is diagnosed before the age of 40. It can be familial or non-familial, with myocilin mutations being the most common association. JOAG is characterized by high intraocular pressures and often requires surgery. Early diagnosis, prompt management, and lifelong monitoring are crucial in preventing disease progression.
SURVEY OF OPHTHALMOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Shi Song Rong, Xinting Yu
Summary: Through a meta-analysis of relevant longitudinal epidemiological studies, it was found that obese and underweight populations have a significantly higher risk of primary open-angle glaucoma (POAG), and there are positive genetic correlations between POAG and body mass index (BMI) and obesity phenotypes. Over 20 genomic loci jointly associated with POAG/IOP and BMI were identified, with CADM2, RP3-335N17.2, RP11-793K1.1, RPS17P5, and CASC20 showing the lowest false discovery rate. These findings support the connection between body fat phenotypes and POAG, and further functional investigation of the newly identified genomic loci and genes is warranted.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Ophthalmology
Yanin Suwan, Masoud Aghsaei Fard, Nantinee Vilainerun, Purit Petpiroon, Apichat Tantraworasin, Chaiwat Teekhasaenee, Robert Ritch, Rahele Kafieh, Sahar Hojati, Wasu Supakontanasan
Summary: This study compared the parapapillary choroidal microvasculature (PPCMv) density between acute primary angle-closure (APAC), primary open-angle glaucoma (POAG) and controls. The results showed that while superficial peripapillary vessels were affected to a similar degree in APAC and POAG, PPCMv drop-out was greater with POAG, suggesting a lesser extent of choroidal vessel density following an acute increase in intraocular pressure before glaucoma develops.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Alireza Kamalipour, Sasan Moghimi, Pooya Khosravi, Mohammad Sadegh Jazayeri, Takashi Nishida, Golnoush Mahmoudinezhad, Elizabeth H. Li, Mark Christopher, Jeffrey M. Liebmann, Massimo A. Fazio, Christopher A. Girkin, Linda Zangwill, Robert N. Weinreb
Summary: This study developed convolutional neural networks to estimate the central 10-degree visual field map in glaucoma patients using spectral-domain optical coherence tomography measurements. The proposed CNN model showed better performance compared to linear regression models.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Lillian K. To, Rupak K. Dhoot, Alice Z. Chuang, Sam Karimaghaei, Francisco Guevara-Abadia, Ruchi D. Shah, Robert M. Feldman
Summary: The study aims to evaluate the safety and effectiveness of Xen45 Gel stent in eyes that have failed prior surgical intervention, compared to traditional glaucoma drainage device (GDD) or continuous-wave cyclophotocoagulation (CPC). The results showed that the Xen45 Gel stent has a similar failure rate at year 1 compared to standard surgical options, with non-inferior intraocular pressure reduction and a better safety profile.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Article
Multidisciplinary Sciences
Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Akhil Pampana, David Y. Zhang, Joseph Park, Stella Aslibekyan, Joshua C. Bis, Jennifer A. Brody, Brian E. Cade, Lee-Ming Chuang, Ren-Hua Chung, Joanne E. Curran, Lisa de Las Fuentes, Paul S. de Vries, Ravindranath Duggirala, Barry Freedman, Mariaelisa Graff, Xiuqing Guo, Nancy Heard-Costa, Bertha Hidalgo, Chii-Min Hwu, Marguerite R. Irvin, Tanika N. Kelly, Brian G. Kral, Leslie Lange, Xiaohui Li, Martin Lisa, Steven A. Lubitz, Ani W. Manichaikul, Preuss Michael, May E. Montasser, Alanna C. Morrison, Take Naseri, Jeffrey R. O'Connell, Nicholette D. Palmer, Patricia A. Peyser, Muagututia S. Reupena, Jennifer A. Smith, Xiao Sun, Kent D. Taylor, Russell P. Tracy, Michael Y. Tsai, Zhe Wang, Yuxuan Wang, Wei Bao, John T. Wilkins, Lisa R. Yanek, Wei Zhao, Donna K. Arnett, John Blangero, Eric Boerwinkle, Donald W. Bowden, Yii-Der Ida Chen, Adolfo Correa, L. Adrienne Cupples, Susan K. Dutcher, Patrick T. Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Jiang He, Robert C. Kaplan, Sharon L. R. Kardia, Ryan Kim, Charles Kooperberg, Ruth J. F. Loos, Karine A. Viaud-Martinez, Rasika A. Mathias, Stephen T. McGarvey, Braxton D. Mitchell, Deborah Nickerson, Kari E. North, Bruce M. Psaty, Susan Redline, Alexander P. Reiner, Ramachandran S. Vasan, Stephen S. Rich, Cristen Willer, Jerome Rotter, Daniel J. Rader, Xihong Lin, Gina M. Peloso, Pradeep Natarajan
Summary: This study used whole genome sequencing to expand the range of genetic variations associated with blood lipids and identified multiple genes related to blood lipids, including both common and rare coding and non-coding variants. The study also found a correlation between rare LDLR intronic variants and increased LDL-C.
NATURE COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Fang Chen, Xingyan Wang, Seon-Kyeong Jang, Bryan C. Quach, J. Dylan Weissenkampen, Chachrit Khunsriraksakul, Lina Yang, Renan Sauteraud, Christine M. Albert, Nicholette D. D. Allred, Donna K. Arnett, Allison E. Ashley-Koch, Kathleen C. Barnes, R. Graham Barr, Diane M. Becker, Lawrence F. Bielak, Joshua C. Bis, John Blangero, Meher Preethi Boorgula, Daniel Chasman, Sameer Chavan, Yii-Der Chen, Lee-Ming Chuang, Adolfo Correa, Joanne E. Curran, Sean P. David, Lisa de Las Fuentes, Ranjan Deka, Ravindranath Duggirala, Jessica D. Faul, Melanie E. Garrett, Sina A. Gharib, Xiuqing Guo, Michael E. Hall, Nicola L. Hawley, Jiang He, Brian D. Hobbs, John E. Hokanson, Chao A. Hsiung, Shih-Jen Hwang, Thomas M. Hyde, Marguerite R. Irvin, Andrew E. Jaffe, Eric O. Johnson, Robert Kaplan, Sharon L. R. Kardia, Joel D. Kaufman, Tanika N. Kelly, Joel E. Kleinman, Charles Kooperberg, I-Te Lee, Daniel Levy, Sharon M. Lutz, Ani W. Manichaikul, Lisa W. Martin, Olivia Marx, Stephen T. McGarvey, Ryan L. Minster, Matthew Moll, Karine A. Moussa, Take Naseri, Kari E. North, Elizabeth C. Oelsner, Juan M. Peralta, Patricia A. Peyser, Bruce M. Psaty, Nicholas Rafaels, Laura M. Raffield, Muagututi'a Sefuiva Reupena, Stephen S. Rich, Jerome Rotter, David A. Schwartz, Aladdin H. Shadyab, Wayne H-H Sheu, Mario Sims, Jennifer A. Smith, Xiao Sun, Kent D. Taylor, Marilyn J. Telen, Harold Watson, Daniel E. Weeks, David R. Weir, Lisa R. Yanek, Kendra A. Young, Kristin L. Young, Wei Zhao, Dana B. Hancock, Bibo Jiang, Scott Vrieze, Dajiang J. Liu
Summary: Most TWASs conducted so far have focused on European ancestry and lacked diversity. To address this limitation, researchers aggregated GWAS summary statistics, whole-genome sequences, and eQTL data from diverse ancestries. They developed a new approach called TESLA, which integrates eQTL datasets with multi-ancestry GWAS, improving power and identifying more genes associated with tobacco use phenotypes compared to alternative TWAS methods. The study also suggests potential drug repurposing options for treating nicotine addiction.
Article
Multidisciplinary Sciences
Joshua S. Weinstock, Jayakrishnan Gopakumar, Bala Bharathi Burugula, Md Mesbah Uddin, Nikolaus Jahn, Julia A. Belk, Hind Bouzid, Bence Daniel, Zhuang Miao, Nghi Ly, Taralynn M. Mack, Sofia E. Luna, Katherine P. Prothro, Shaneice R. Mitchell, Cecelia A. Laurie, Jai G. Broome, Kent D. Taylor, Xiuqing Guo, Moritz F. Sinner, Aenne S. von Falkenhausen, Stefan Kaeaeb, Alan R. Shuldiner, Jeffrey R. O'Connell, Joshua P. Lewis, Eric Boerwinkle, Kathleen C. Barnes, Nathalie Chami, Eimear E. Kenny, Ruth J. F. Loos, Myriam Fornage, Lifang Hou, Donald M. Lloyd-Jones, Susan Redline, Brian E. Cade, Bruce M. Psaty, Joshua C. Bis, Jennifer A. Brody, Edwin K. Silverman, Jeong H. Yun, Dandi Qiao, Nicholette D. Palmer, Barry Freedman, Donald W. Bowden, Michael H. Cho, Dawn L. DeMeo, Ramachandran S. Vasan, Lisa R. Yanek, Lewis C. Becker, Sharon L. R. Kardia, Patricia A. Peyser, Jiang He, Michiel Rienstra, Pim Van der Harst, Robert Kaplan, Susan R. Heckbert, Nicholas L. Smith, Kerri L. Wiggins, Donna K. Arnett, Marguerite R. Irvin, Hemant Tiwari, Michael J. Cutler, Stacey Knight, J. Brent Muhlestein, Adolfo Correa, Laura M. Raffield, Yan Gao, Mariza de Andrade, Jerome Rotter, Stephen S. Rich, Russell P. Tracy, Barbara A. Konkle, Jill M. Johnsen, Marsha M. Wheeler, J. Gustav Smith, Olle Melander, Peter M. Nilsson, Brian S. Custer, Ravindranath Duggirala, Joanne E. Curran, John Blangero, Stephen McGarvey, L. Keoki Williams, Shujie Xiao, Mao Yang, C. Charles Gu, Yii-Der Ida Chen, Wen-Jane Lee, Gregory M. Marcus, John P. Kane, Clive R. Pullinger, M. Benjamin Shoemaker, Dawood Darbar, Dan M. Roden, Christine Albert, Charles Kooperberg, Ying Zhou, JoAnn E. Manson, Pinkal Desai, Andrew D. Johnson, Rasika A. Mathias, Thomas W. Blackwell, Goncalo R. Abecasis, Albert V. Smith, Hyun M. Kang, Ansuman T. Satpathy, Pradeep Natarajan, Jacob O. Kitzman, Eric A. Whitsel, Alexander P. Reiner, Alexander G. Bick, Siddhartha Jaiswal, Namiko Abe, Goncalo R. Abecasis, Francois Aguet, Christine Albert, Laura Almasy, Alvaro Alonso, Seth Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum-Bowden, Kristin Ardlie, Dan Arking, Donna K. Arnett, Allison Ashley-Koch, Stella Aslibekyan, Tim Assimes, Paul Auer, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Katheen C. Barnes, R. Graham Barr, Emily Barron-Casella, Lucas Barwick, Terri Beaty, Gerald Beck, Diane Becker, Rebecca Beer, Amber Beitelshees, Emelia Benjamin, Takis Benos, Marcos Bezerra, Larry Bielak, Joshua Bis, Thomas W. Blackwell, John Blangero, Eric Boerwinkle, Russell Bowler, Ulrich Broeckel, Deborah Brown, Karen Bunting, Esteban Burchard, Carlos K. Bustamante, Erin Buth, Jonathan Cardwell, Vincent Carey, Julie Carrier, Cara Carty, Richard Casaburi, Juan Casas Romero, James Casella, Peter Castaldi, Mark Chaffin, Christy Chang, Yi-Cheng Chang, Daniel Chasman, Sameer Chavan, Bo-Juen M. Chen, Wei-Min Chen, Michael H. Cho, Seung Hoan Choi, Lee-Ming Chuang, Mina Chung, Ren-Hua Chung, Clary Clish, Suzy Comhair, Matthew Conomos, Elaine Cornell, Carolyn Crandall, James Crapo, L. Adrienne Cupples, Jeffrey Curtis, Brian S. Custer, Coleen Damcott, Dawood Darbar, Sean David, Colleen Davis, Michelle Daya, Lisa de las Fuentes, Paul de Vries, Michael DeBaun, Ranjan Deka, Scott Devine, Huyen Dinh, Harsha Doddapaneni, Qing Duan, Shannon Dugan-Perez, Ravi Duggirala, Jon Peter Durda, Susan Dutcher, Charles Eaton, Lynette Ekunwe, Adel El Boueiz, Patrick Ellinor, Leslie Emery, Serpil Erzurum, Charles Farber, Jesse Farek, Tasha Fingerlin, Matthew Flickinger, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Margery Gass, Heather Geiger, Bruce Gelb, Mark Geraci, Soren Germer, Robert Gerszten, Auyon Ghosh, Richard Gibbs, Chris Gignoux, Mark Gladwin, David Glahn, Stephanie Gogarten, Da-Wei Gong, Harald Goring, Sharon Graw, Kathryn Gray, Daniel Grine, Colin Gross, Yue Guan, Namrata Gupta, David Haas, Jeff Haessler, Michael Hall, Yi Han, Patrick Hanly, Daniel A. Harris, Nicola Hawley, Ben Heavner, Ryan Hernandez, David Herrington, Craig Hersh, Bertha Hidalgo, James A. Hixson, Brian Hobbs, John Hokanson, Elliott Hong, Karin Hoth, Chao Agnes Hsiung, Jianhong Hu, Yi-Jen Hung, Haley Huston, Chii Min Hwu, Rebecca Jackson, Deepti Jain, Cashell Jaquish, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Shannon Kelly, Michael Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Greg Kinney, Holly Kramer, Christoph Lange, Ethan Lange, Leslie Lange, Cathy Laurie, Mery LeBoff, Jiwon Lee, Sandra Lee, Wen-Jane Lee, Jonathon LeFaive, David Levine, Dan Levy, Xiaohui Li, Yun Li, Henry Lin, Honghuang Lin, Xihong Lin, Simin Liu, Yongmei Liu, Yu Liu, Steven Lubitz, Kathryn Lunetta, James Luo, Ulysses Magalang, Michael Mahaney, Barry Make, Ani Manichaikul, Alisa Manning, Lisa Martin, Melissa Marton, Susan E. Mathai, Susanne May, Patrick McArdle, Merry-Lynn McDonald, Sean McFarland, Daniel McGoldrick, Caitlin McHugh, Becky McNeil, Hao Mei, James Meigs, Vipin Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Nancy Min, Mollie Minear, Ryan L. Minster, Braxton D. Mitchell, Matt Moll, Zeineen Momin, May E. Montasser, Courtney Montgomery, Donna Muzny, Josyf C. Mychaleckyj, Girish Nadkarni, Rakhi Naik, Take Naseri, Pradeep Natarajan, Sergei Nekhai, Sarah S. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah Nickerson, Osuji Nkechinyere, Kari North, Jeff O'Connell, Tim O'Connor, Heather Ochs-Balcom, Geoffrey Okwuonu, Allan Pack, David Paik, James Pankow, George Papanicolaou, Cora Parker, Gina Peloso, Juan Manuel Peralta, Marco Perez, James Perry, Ulrike Peters, Lawrence Phillips, Jacob Pleiness, Toni Pollin, Wendy Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuss, Pankaj Qasba, Zhaohui Qin, Nicholas Rafaels, Mahitha Rajendran, Vasan S. Ramachandran, D. C. Rao, Laura Rasmussen-Torvik, Aakrosh Ratan, Robert Reed, Catherine Reeves, Elizabeth Regan, Alexander Reiner, Muagututi'a Sefuiva Reupena, Ken Rice, Rebecca Robillard, Nicolas Robine, Carolina Roselli, Ingo Ruczinski, Alexi Runnels, Pamela Russell, Sarah Ruuska, Kathleen Ryan, Ester Cerdeira Sabino, Danish Saleheen, Shabnam Salimi, Sejal Salvi, Steven Salzberg, Kevin Sandow, Vijay G. Sankaran, Jireh Santibanez, Karen Schwander, David Schwartz, Frank Sciurba, Christine Seidman, Jonathan Seidman, Frederic Series, Vivien Sheehan, Stephanie L. Sherman, Amol Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, Brian Silver, Robert Skomro, Albert Vernon Smith, Jennifer Smith, Josh Smith, Tanja Smith, Sylvia Smoller, Beverly Snively, Michael Snyder, Tamar Sofer, Nona Sotoodehnia, Adrienne M. Stilp, Garrett Storm, Elizabeth Streeten, Jessica Lasky Su, Yun Ju Sung, Jody Sylvia, Adam Szpiro, Daniel Taliun, Hua Tang, Margaret Taub, Matthew Taylor, Simeon Taylor, Marilyn Telen, Timothy A. Thornton, Machiko Threlkeld, Lesley Tinker, David Tirschwell, Sarah Tishkoff, Catherine Tong, Michael Tsai, Dhananjay Vaidya, David Van Den Berg, Peter VandeHaar, Scott Vrieze, Tarik Walker, Robert Wallace, Avram Walts, Fei Fei Wang, Heming Wang, Jiongming Wang, Karol Watson, Jennifer Watt, Daniel Weeks, Bruce Weir, Scott Weiss, Lu-Chen Weng, Jennifer Wessel, Cristen Willer, Kayleen Williams, Carla Wilson, James Wilson, Lara Winterkorn, Quenna Wong, Joseph Wu, Huichun Xu, Ivana Yang, Ketian Yu, Seyedeh Maryam Zekavat, Yingze Zhang, Snow Xueyan Zhao, Wei Zhao, Xiaofeng Zhu, Michael Zody, Sebastian Zoellner
Summary: A common inherited polymorphism is associated with a slower expansion rate of clonal hematopoiesis and affects multiple mutated driver genes. The protective allele restricts the expression and expansion of mutant hematopoietic stem cells by regulating TCL1A activation.
Correction
Multidisciplinary Sciences
Vincent L. Chen, Xiaomeng Du, Yanhua Chen, Annapurna Kuppa, Samuel K. Handelman, Rishel B. Vohnoutka, Patricia A. Peyser, Nicholette D. Palmer, Lawrence F. Bielak, Brian Halligan, Elizabeth K. Speliotes
NATURE COMMUNICATIONS
(2023)
Article
Multidisciplinary Sciences
Joshua S. Weinstock, Cecelia A. Laurie, Jai G. Broome, Kent D. Taylor, Xiuqing Guo, Alan R. Shuldiner, Jeffrey R. O'Connell, Joshua P. Lewis, Eric Boerwinkle, Kathleen C. Barnes, Nathalie Chami, Eimear E. Kenny, Ruth J. F. Loos, Myriam Fornage, Susan Redline, Brian E. Cade, Frank D. Gilliland, Zhanghua Chen, W. James Gauderman, Rajesh Kumar, Leslie Grammer, Robert P. Schleimer, Bruce M. Psaty, Joshua C. Bis, Jennifer A. Brody, Edwin K. Silverman, Jeong H. Yun, Dandi Qiao, Scott T. Weiss, Jessica Lasky-Su, Dawn L. DeMeo, Nicholette D. Palmer, Barry I. Freedman, Donald W. Bowden, Michael H. Cho, Ramachandran S. Vasan, Andrew D. Johnson, Lisa R. Yanek, Lewis C. Becker, Sharon Kardia, Jiang He, Robert Kaplan, Susan R. Heckbert, Nicholas L. Smith, Kerri L. Wiggins, Donna K. Arnett, Marguerite R. Irvin, Hemant Tiwari, Adolfo Correa, Laura M. Raffield, Yan Gao, Mariza de Andrade, Jerome I. Rotter, Stephen S. Rich, Ani W. Manichaikul, Barbara A. Konkle, Jill M. Johnsen, Marsha M. Wheeler, Brian S. Custer, Ravindranath Duggirala, Joanne E. Curran, John Blangero, Hongsheng Gui, Shujie Xiao, L. Keoki Williams, Deborah A. Meyers, Xingnan Li, Victor Ortega, Stephen McGarvey, C. Charles Gu, Yii-Der Ida Chen, Wen-Jane Lee, M. Benjamin Shoemaker, Dawood Darbar, Dan Roden, Christine Albert, Charles Kooperberg, Pinkal Desai, Thomas W. Blackwell, Goncalo R. Abecasis, Albert V. Smith, Hyun M. Kang, Rasika Mathias, Pradeep Natarajan, Siddhartha Jaiswal, Alexander P. Reiner, Alexander G. Bick
Summary: Based on the analysis of 43,693 blood whole genomes, researchers discovered 7131 recurrent non-missense somatic mutations (RNMSMs) that are associated with blood cell traits and human health consequences, and their prevalence increases with age.
Article
Ophthalmology
Ari Leshno, Carlos Gustavo De Moraes, George A. Ciof, Michael Kass, Mae Gordon, Jeffrey M. Liebmann
Summary: This study investigates the predictive accuracy of the OHTS calculator in treating patients with ocular hypertension. The results suggest that the calculator can be applied to treated patients, and repeat risk calculation after IOP reduction may aid in disease management.
OPHTHALMOLOGY GLAUCOMA
(2023)
Article
Ophthalmology
Sasan Moghimi, Alireza Kamalipour, Takashi Nishida, Linda Zangwill, Massimo Fazio, Christopher A. Girkin, Jeffrey M. Liebmann, Robert N. Weinreb
Summary: The purpose of this study was to evaluate the association between the severity of baseline visual field damage and the initial rates of visual field progression with quality of life outcomes in glaucoma patients. A retrospective cohort study was conducted on 167 glaucoma or suspected glaucoma patients, and the National Eye Institute Visual Function Questionnaire (NEI-VFQ)-25 was used to assess quality of life at the end of the follow-up. The study found that greater baseline severity of visual field damage and faster rates of decline in visual field parameters were associated with worse quality of life outcomes.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Oncology
Claire L. Leiser, Eric A. Whitsel, Alexander Reiner, Stephen S. Rich, Jerome I. Rotter, Kent D. Taylor, Russel P. Tracy, Charles Kooperberg, Albert Vernon Smith, JoAnn E. Manson, Josyf C. Mychaleckyj, Alexander G. Bick, Adam A. Szpiro, Joel D. Kaufman
Summary: This study aimed to estimate the association between air pollution and clonal hematopoiesis of indeterminate potential (CHIP). The results showed no evidence of an association between air pollution and CHIP prevalence in two large observational cohorts.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Ophthalmology
Ari Leshno, Emmanouil Tsamis, Noga Harizman, Carlos Gustavo De Moraes, Sol La Bruna, Anvit Rai, Aakriti Garg-Shukla, George A. Cioffi, Qing Wang, Jeffrey M. Liebmann, Donald C. Hood
Summary: This study aimed to assess the added value of providing clinicians with optical coherence tomography (OCT) data for glaucoma staging in clinical practice. The results showed that combining OCT and visual field data provides better staging of glaucoma severity and helps guide treatment plans.
Article
Endocrinology & Metabolism
Fang-Chi Hsu, Nicholette D. Palmer, Shyh-Huei Chen, Maggie C. Y. Ng, Mark O. Goodarzi, Jerome I. Rotter, Lynne E. Wagenknecht, Michael P. Bancks, Richard N. Bergman, Donald W. Bowden
Summary: A method for estimating insulin resistance using metabolomics data has been developed, which has the potential to be applied to a wide range of biomedical studies and conditions.
Article
Endocrinology & Metabolism
Hayrettin Okut, Yingchang Lu, Nicholette D. Palmer, Yii-Der Ida Chen, Kent D. Taylor, Jill M. Norris, Carlos Lorenzo, Jerome I. Rotter, Carl D. Langefeld, Lynne E. Wagenknecht, Donald W. Bowden, Maggie C. Y. Ng
Summary: This study aimed to examine the metabolomic signature of glucose homeostasis in African Americans and found that the plasma metabolite levels of branched-chain amino acids and their derivatives, 2-aminoadipate, 2-hydroxybutyrate, glutamate, arginine and its derivatives, carbohydrate metabolites, and medium- and long-chain fatty acids were associated with insulin resistance, while the plasma metabolite levels in the glycine, serine, and threonine metabolic pathway were associated with insulin sensitivity. Moreover, the ancestral effect of glutamate on glucose homeostasis was stronger in African Americans than in Mexican Americans.
Correction
Genetics & Heredity
Lindsay Fernandez-Rhodes, Mariaelisa Graff, Victoria L. Buchanan, Anne E. Justice, Heather M. Highland, Xiuqing Guo, Wanying Zhu, Hung-Hsin Chen, Kristin L. Young, Kaustubh Adhikari, Nicholette D. Palmer, Jennifer E. Below, Jonathan Bradfield, Alexandre C. Pereira, LaShaunta Glover, Daeeun Kim, Adam G. Lilly, Poojan Shrestha, Alvin G. Thomas, Xinruo Zhang, Minhui Chen, Charleston W. K. Chiang, Sara Pulit, Andrea Horimoto, Jose E. Krieger, Marta Guindo-Martinez, Michael Preuss, Claudia Schumann, Roelof A. J. Smit, Gabriela Torres-Mejia, Victor Acuna-Alonzo, Gabriel Bedoya, Maria-Catira Bortolini, Samuel Canizales-Quinteros, Carla Gallo, Rolando Gonzalez-Jose, Giovanni Poletti, Francisco Rothhammer, Hakon Hakonarson, Robert Igo, Sharon G. Adler, Sudha K. Iyengar, Susanne B. Nicholas, Stephanie M. Gogarten, Carmen R. Isasi, George Papnicolaou, Adrienne M. Stilp, Qibin Qi, Minjung Kho, Jennifer A. Smith, Carl D. Langefeld, Lynne Wagenknecht, Roberta Mckean-Cowdin, Xiaoyi Raymond Gao, Darryl Nousome, David Conti, Ye Feng, Matthew A. Allison, Zorayr Arzumanyan, Thomas A. Buchanan, Yii-Der Ida Chen, Pauline M. Genter, Mark O. Goodarzi, Yang Hai, Willa Hsueh, Eli Ipp, Fouad R. Kandeel, Kelvin Lam, Xiaohui Li, Jerry L. Nadler, Leslie J. Raffel, Kathryn Roll, Kevin Sandow, Jingyi Tan, Kent D. Taylor, Anny H. Xiang, Jie Yao, Astride Audirac-Chalifour, Jose de Jesus Peralta Romero, Fernando Hartwig, Bernando Horta, John Blangero, Joanne E. Curran, Ravindranath Duggirala, Donna E. Lehman, Sobha Puppala, Laura Fejerman, Esther M. John, Carlos Aguilar-Salinas, Noel P. Burtt, Jose C. Florez, Humberto Garcia-Ortiz, Clicerio Gonzalez-Villalpando, Josep Mercader, Lorena Orozco, Teresa Tusie-Luna, Estela Blanco, Sheila Gahagan, Nancy J. Cox, Craig Hanis, Nancy F. Butte, Shelley A. Cole, Anthony G. Comuzzie, V. Saroja Voruganti, Rebecca Rohde, Yujie Wang, Tamar Sofer, Elad Ziv, Struan F. A. Grant, Andres Ruiz-Linares, Jerome I. Rotter, Christopher A. Haiman, Esteban J. Parra, Miguel Cruz, Ruth J. F. Loos, Kari E. North
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)