Cistulli, Peter A
Mayo Clinic
Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Citations 2
COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA
Justice, Anne E. , Pahl, Matthew C. , Gupta, Shreyash , Kim, Soriul , Thorleifsson, Gudmar, Gutierrez, Alejandro , Oliveira, Fernando Andrade de , Ackert‐Bicknell, Cheryl L. , Benediktsdottir, Bryndis, Boero, Jaime, Borthwick, Kenneth M., Chen, N., Cistulli, Peter A. , Favazzo, Lacey J. , Gottlieb, Daniel J. , Hakonarson, H., Kirchner, H. Lester , Mazzotti, Diego R, Mentch, Frank , Morgentheler, Timothy I, Penzel, Thomas, Pippin, James A. , Rasmussen-Torvik, Laura J, Shin, Chol, Singh, Bhajan, Sofer, T., Villani, David A. , Wells, Andrew D, Zee, Phyllis, Jonsdottir, Ingileif, Gislason, Thorarinn, Robishaw, Janet, Stefansson, K., Grant, Struan FA., Pack, A., Þorleifsson, Guðmar , Kim, Soriul , Thorleifsson, Gudmar , Manduchi, Elisabetta , Gutierrez, Alejandro , Cistulli, Peter A , Gottlieb, Daniel J , Magalang, Ulysses J , Mazzotti, Diego R , Mentch, Frank D , Morgenthaler, Timothy I , Rasmussen-Torvik, Laura J , Shin, Chol , Singh, Bhajan , Sofer, Tamar , Williams, Marc S , Zuscik, Michael J , Jonsdottir, Ingileif , Gislason, Thorarinn , Stefánsson, Kári , Keenan, Brendan T , Chittoor, Geetha , Hoskens, Hanne , Josyula, Navya Shilpa , Oliveira, Fernando Andrade, Malow, Beth A. , McArdle, Nigel , Morgenthaler, Timothy I. , Penzel, Thomas , Sofer, Tamar , Veatch, Olivia J. , Robishaw, Janet D. , Stefánsson, Kāri , Grant, Struan F.A. , Hallgrímsson, Benedikt , Pack, Allan I
No container title available | January 11, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
ABSTRACT Obstructive sleep apnea (OSA) is a common, heritable disorder with diverse clinical presentations and etiologies. We conducted a genome-wide association meta-analysis of 492,107 individuals, including 46,028 OSA cases, identifying 14 genome-wide significant loci, eight of which are novel. Analyses adjusting for body mass index (BMI) revealed three loci independent of obesity, implicating alternative biological pathways contributing to disease. Integrative functional analyses, including chromatin interaction mapping, fine-mapping, and eQTL colocalization, prioritized candidate effector genes. Notably, implicated genes in chondrocytes were associated with craniofacial morphology in both mouse and human multivariate genotype-phenotype mapping, supporting a role for craniofacial structure in OSA risk. These findings highlight key genetic pathways (obesity-related, neurological, and craniofacial) underlying the development of OSA, offering new insights into its complex etiology.
International Consensus Statement on Obstructive Sleep Apnea
Chang, Jolie L. , Goldberg, Andrew N. , Alzoubaidi, Mohammed , Ashbrook, Liza , Auckley, Dennis , Ayappa, Indu , Bakhtiar, H., Bartley, Bethany L. , Billings, Martha E. , Boon, Maurits , Bosschieter, Pien F. N. , Braverman, Itzhak , Brodie, Kara D. , Caesar, Ray, Cahali, Michel Burihan, Cai, Yi , Cao, Michelle , Capasso, Robson , Caples, Sean M., Chang, Corissa P. , Chang, Katherine W. , Chaudhary, Nilika, Cheong, Crystal , Chowdhuri, Susmita , Cistulli, Peter A. , Claman, David M., Collen, Jacob , Coughlin, Kevin , Creamer, Jennifer , Davis, Eric M. , Dupuy-McCauley, Kara , Durr, Megan L. , Dutt, Mohan, Ali, Mazen El, Elkassabany, Nabil , Epstein, Lawrence J., Fiala, Justin A. , Freedman, Neil, Gill, Kirat, Gillespie, M. Boyd , Golisch, Lea, Gooneratne, Nalaka S., Gottlieb, Daniel J. , Green, Katherine K., Gurubhagavatula, Indira , Hayward, Nathan, Hoffmann, Oliver M. G., Holfinger, Steven , Hsia, Jennifer, Huoh, Kevin C. , Inala, Sanjana , Jobanputra, Aesha M. , Johnson, Andrew P. , Junna, Mithri R. , Kado, Jenna T. , Kaffenberger, Thomas M. , Khan, Meena , Kirsch, Douglas B. , Kominsky, Alan, Kryger, Meir H. , Kushida, Clete A. , Kuzniar, Thomas J., Lim, Diane C , Liu, Stanley Yung‐Chuan , MacKay, Stuart G. , Maurer, Joachim T. , May, Anna M. , Mitchell, Ron B. , Mullins, Anna , Nada, Eman , Naik, Sreelatha , Nokes, Brandon , Olson, Michael D. , Pang, Edward B. , Pang, Kenny P. , Perck, Eli Van de , Piccirillo, Jay F. , Pien, Grace W. , Plawecki, Andrea , Quigg, Mark , Ravesloot, Madeline J. L. , Redline, Susan , Rotenberg, Brian , Ryden, Armand, Sarmiento, Kathleen , Sbeih, Firas , Schell, Amy E., Schotland, Helena , Schwab, Richard J. , Seo, Jiyeon , Shah, Neomi , Shelgikar, Anita V., Shochat, Isaac , Soose, Ryan J. , Steele, Toby O. , Stephens, Erika M. , Stepnowsky, Carl , Thaler, Erica R. , Thapa, Sritika, Vries, Nico de, Weaver, Edward M. , Weir, Ian, Wolfe, Lisa F. , Woodson, B. Tucker , Won, Christine , Xu, Josie , Yalamanchi, Pratyusha , Yaremchuk, Kathleen , Yeghiazarians, Yerem, Yu, Jason L. , Zeidler, Michelle , Rosen, Ilene M. , Alt, Jeremiah A , Mohammed, Alzoubaidi , Ashbrook, Liza , Auckley, Dennis , Ayappa, Indu , Bartley, Bethany L , Braverman, Itzhak , Cahali, Michel B , Cai, Yi , Cheong, Crystal S J , Chowdhuri, Susmita , Cistulli, Peter A , Creamer, Jennifer , Dupuy-McCauley, Kara L , Durr, Megan L , Elkassabany, Nabil M , Fiala, Justin A , Gottlieb, Daniel J , Gulati, Arushi , Holfinger, Steven J , Huntley, Colin , Huyett, Phillip , Inala, Sanjana , Ishman, Stacey L , Jobanputra, Aesha M , Kado, Jenna T , Kezirian, Eric J , Kirsch, Douglas B , Kushida, Clete A , Lam, Derek J , Lettieri, Christopher J , Lin, Hsin-Ching , Magalang, Ulysses J , Malhotra, Atul , Mansukhani, Meghna P , Maurer, Joachim T , May, Anna M , Mitchell, Ron B , Mullins, Anna E , Nada, Eman M , Naik, Sreelatha , Nokes, Brandon T , Pack, Allan I , Pien, Grace W , Piper, Amanda J , Ravesloot, Madeline J L , Redline, Susan , Rotenberg, Brian W , Sarmiento, Kathleen F , Schmickl, Christopher N , Shelgikar, Anita Valanju , Shochat, Isaac , Soose, Ryan J , Steele, Toby O , Stephens, Erika , Strohl, Kingman P , Suurna, Maria V , Vanderveken, Olivier M , Yu, Jason L , Rosen, Ilene M , Alt, Jeremiah A. , Barrera, Jose Enrique , Cabrera‐Muffly, Cristina , Chahine, Lana M. , Hoff, Paul T. , Ishman, Stacey L. , Jella, Tarun K. , Kapur, Vishesh K. , Kezirian, Eric J. , Krystal, Andrew D. , Lam, Derek J. , Malhotra, Atul , Mansukhani, Meghna P. , Mokhlesi, Babak , Pack, Allan I , Patil, Susheel P. , Sutherland, Kate
International Forum of Allergy & Rhinology | September 7, 2022 | Volume: 13 | Issue: 7 | Pages: 1061-1482
ABSTRACT Background Evaluation and interpretation of the literature on obstructive sleep apnea (OSA) allows for consolidation and determination of the key factors important for clinical management of the adult OSA patient. Toward this goal, an international collaborative of multidisciplinary experts in sleep apnea evaluation and treatment have produced the International Consensus statement on Obstructive Sleep Apnea (ICS:OSA). Methods Using previously defined methodology, focal topics in OSA were assigned as literature review (LR), evidence‐based review (EBR), or evidence‐based review with recommendations (EBR‐R) formats. Each topic incorporated the available and relevant evidence which was summarized and graded on study quality. Each topic and section underwent iterative review and the ICS:OSA was created and reviewed by all authors for consensus. Results The ICS:OSA addresses OSA syndrome definitions, pathophysiology, epidemiology, risk factors for disease, screening methods, diagnostic testing types, multiple treatment modalities, and effects of OSA treatment on multiple OSA‐associated comorbidities. Specific focus on outcomes with positive airway pressure (PAP) and surgical treatments were evaluated. Conclusion This review of the literature consolidates the available knowledge and identifies the limitations of the current evidence on OSA. This effort aims to create a resource for OSA evidence‐based practice and identify future research needs. Knowledge gaps and research opportunities include improving the metrics of OSA disease, determining the optimal OSA screening paradigms, developing strategies for PAP adherence and longitudinal care, enhancing selection of PAP alternatives and surgery, understanding health risk outcomes, and translating evidence into individualized approaches to therapy.