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1. A phase 1b study of venetoclax and azacitidine combination in patients with relapsed or refractory myelodysplastic syndromes. [2023]

  • Zeidan AM, Borate U, Pollyea DA, Brunner AM, Roncolato F, Garcia JS, Filshie R, Odenike O, Watson AM, Krishnadasan R, Bajel A, Naqvi K, Zha J, Cheng WH, Zhou Y, Hoffman D, Harb JG, Potluri J, and Garcia-Manero G
  • American journal of hematology [Am J Hematol] 2023 Feb; Vol. 98 (2), pp. 272-281. Date of Electronic Publication: 2022 Nov 10.
Subjects
Aged, Humans, Male, Azacitidine therapeutic use, Leukemia, Myeloid, Acute drug therapy, Neutropenia chemically induced, Sulfonamides, Treatment Outcome, Female, Antineoplastic Combined Chemotherapy Protocols adverse effects, and Myelodysplastic Syndromes drug therapy
Abstract
Patients with relapsed/refractory (R/R) higher-risk myelodysplastic syndromes (MDS) have a dismal median overall survival (OS) after failing hypomethylating agent (HMA) treatment. There is no standard of care for patients after HMA therapy failure; hence, there is a critical need for effective therapeutic strategies. Herein, we present the safety and efficacy of venetoclax + azacitidine in patients with R/R MDS. This phase 1b, open-label, multicenter study enrolled patients ≥18 years. Patients were treated with escalating doses of oral venetoclax: 100, 200, or 400 mg daily for 14 days every 28-day cycle. Azacitidine was administered on Days 1-7 every cycle at 75 mg/m 2 /day intravenously/subcutaneously. Responses were assessed per modified 2006 International Working Group (IWG) criteria. Forty-four patients (male 86%, median age 74 years) received venetoclax + azacitidine treatment. Median follow-up was 21.2 months. Hematological adverse events of Grade ≥ 3 included febrile neutropenia (34%), thrombocytopenia (32%), neutropenia (27%), and anemia (18%). Pneumonia (23%) was the most common Grade ≥ 3 infection. Marrow responses were seen including complete remission (CR, n = 3, 7%) and marrow CR (mCR, n = 14, 32%); 36% (16/44) achieved transfusion independence (TI) for RBCs and/or platelets, and 43% (6/14) with mCR achieved hematological improvement (HI). The median time to CR/mCR was 1.2 months, and the median duration of response for CR + mCR was 8.6 months. Median OS was 12.6 months. Venetoclax + azacitidine shows activity in patients with R/R MDS following prior HMA therapy failure and provides clinically meaningful benefits, including HI and TI, and encouraging OS.
(© 2022 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.)

2. Transnational Trans Woman Inspires and Informs Evidence-Informed Interventions. [2023]

  • Cruzado-Quiñones J, Huibregtse RC, and Jordan AO
  • Journal of correctional health care : the official journal of the National Commission on Correctional Health Care [J Correct Health Care] 2023 Jan 25. Date of Electronic Publication: 2023 Jan 25.
Abstract
Transitional Care Coordination is an evidence-informed model program developed by New York City Correctional Health Services as a Health Resources and Services Administration Special Projects of National Significance Correctional Health Linkage Intervention. Using implementation science under this and subsequent demonstration projects, interventions were adapted and enhanced to address the transitional needs of people of Puerto Rican ancestry and to expand the network of care across the islands of Puerto Rico. These interventions were informed, in part, by a transnational trans woman of color of Puerto Rican ancestry living with HIV. A socioecological model framework and case study are used to illustrate how evidence-informed interventions are developed and adapted to address the needs of those served.

3. Volume of subcortical brain regions in social anxiety disorder: mega-analytic results from 37 samples in the ENIGMA-Anxiety Working Group. [2023]

  • Groenewold NA, Bas-Hoogendam JM, Amod AR, Laansma MA, Van Velzen LS, Aghajani M, Hilbert K, Oh H, Salas R, Jackowski AP, Pan PM, Salum GA, Blair JR, Blair KS, Hirsch J, Pantazatos SP, Schneier FR, Talati A, Roelofs K, Volman I, Blanco-Hinojo L, Cardoner N, Pujol J, Beesdo-Baum K, Ching CRK, Thomopoulos SI, Jansen A, Kircher T, Krug A, Nenadić I, Stein F, Dannlowski U, Grotegerd D, Lemke H, Meinert S, Winter A, Erb M, Kreifelts B, Gong Q, Lui S, Zhu F, Mwangi B, Soares JC, Wu MJ, Bayram A, Canli M, Tükel R, Westenberg PM, Heeren A, Cremers HR, Hofmann D, Straube T, Doruyter AGG, Lochner C, Peterburs J, Van Tol MJ, Gur RE, Kaczkurkin AN, Larsen B, Satterthwaite TD, Filippi CA, Gold AL, Harrewijn A, Zugman A, Bülow R, Grabe HJ, Völzke H, Wittfeld K, Böhnlein J, Dohm K, Kugel H, Schrammen E, Zwanzger P, Leehr EJ, Sindermann L, Ball TM, Fonzo GA, Paulus MP, Simmons A, Stein MB, Klumpp H, Phan KL, Furmark T, Månsson KNT, Manzouri A, Avery SN, Blackford JU, Clauss JA, Feola B, Harper JC, Sylvester CM, Lueken U, Veltman DJ, Winkler AM, Jahanshad N, Pine DS, Thompson PM, Stein DJ, and Van der Wee NJA
  • Molecular psychiatry [Mol Psychiatry] 2023 Jan 19. Date of Electronic Publication: 2023 Jan 19.
Abstract
There is limited convergence in neuroimaging investigations into volumes of subcortical brain regions in social anxiety disorder (SAD). The inconsistent findings may arise from variations in methodological approaches across studies, including sample selection based on age and clinical characteristics. The ENIGMA-Anxiety Working Group initiated a global mega-analysis to determine whether differences in subcortical volumes can be detected in adults and adolescents with SAD relative to healthy controls. Volumetric data from 37 international samples with 1115 SAD patients and 2775 controls were obtained from ENIGMA-standardized protocols for image segmentation and quality assurance. Linear mixed-effects analyses were adjusted for comparisons across seven subcortical regions in each hemisphere using family-wise error (FWE)-correction. Mixed-effects d effect sizes were calculated. In the full sample, SAD patients showed smaller bilateral putamen volume than controls (left: d = -0.077, p FWE  = 0.037; right: d = -0.104, p FWE  = 0.001), and a significant interaction between SAD and age was found for the left putamen (r = -0.034, p FWE  = 0.045). Smaller bilateral putamen volumes (left: d = -0.141, p FWE  < 0.001; right: d = -0.158, p FWE  < 0.001) and larger bilateral pallidum volumes (left: d = 0.129, p FWE  = 0.006; right: d = 0.099, p FWE  = 0.046) were detected in adult SAD patients relative to controls, but no volumetric differences were apparent in adolescent SAD patients relative to controls. Comorbid anxiety disorders and age of SAD onset were additional determinants of SAD-related volumetric differences in subcortical regions. To conclude, subtle volumetric alterations in subcortical regions in SAD were detected. Heterogeneity in age and clinical characteristics may partly explain inconsistencies in previous findings. The association between alterations in subcortical volumes and SAD illness progression deserves further investigation, especially from adolescence into adulthood.
(© 2023. The Author(s), under exclusive licence to Springer Nature Limited.)

4. PASC in Solid Organ Transplant Recipients With Self-reported SARS-CoV-2 Infection. [2023]

  • Alasfar S, Chiang TP, Snyder AJ, Ou MT, Boyarsky BJ, Abedon AT, Alejo JL, Cook S, Cochran W, Brigham E, Parker AM, Garonzik-Wang J, Massie AB, Brennan DC, Vannorsdall T, Segev DL, and Avery RK
  • Transplantation [Transplantation] 2023 Jan 01; Vol. 107 (1), pp. 181-191. Date of Electronic Publication: 2022 Sep 19.
Subjects
Humans, Self Report, SARS-CoV-2, Quality of Life, COVID-19 Testing, Transplant Recipients, Cough, Pain, COVID-19 epidemiology, and Organ Transplantation adverse effects
Abstract
Background: Postacute sequelae of SARS-CoV-2 infection (PASC) is an increasingly recognized phenomenon and manifested by long-lasting cognitive, mental, and physical symptoms beyond the acute infection period. We aimed to estimate the frequency of PASC symptoms in solid organ transplant (SOT) recipients and compared their frequency between those with SARS-CoV-2 infection requiring hospitalization and those who did not require hospitalization.
Methods: A survey consisting of 7 standardized questionnaires was administered to 111 SOT recipients with history of SARS-CoV-2 infection diagnosed >4 wk before survey administration.
Results: Median (interquartile range) time from SARS-CoV-2 diagnosis was 167 d (138-221). Hospitalization for SARS-CoV-2 infection was reported in 33 (30%) participants. Symptoms after the COVID episode were perceived as following: significant trauma (53%), cognitive decline (50%), fatigue (41%), depression (36%), breathing problems (35%), anxiety (23%), dysgeusia (22%), dysosmia (21%), and pain (19%). Hospitalized patients had poorer median scores in cognition (Quick Dementia Rating System survey score: 2.0 versus 0.5, P = 0.02), quality of life (Health-related Quality of Life survey: 2.0 versus 1.0, P = 0.015), physical health (Global physical health scale: 10.0 versus 11.0, P = 0.005), respiratory status (Breathlessness, Cough and Sputum Scale: 1.0 versus 0.0, P = 0.035), and pain (Pain score: 3 versus 0 out of 10, P = 0.003). Among patients with infection >6 mo prior, some symptoms were still present as following: abnormal breathing (42%), cough (40%), dysosmia (29%), and dysgeusia (34%).
Conclusions: SOT recipients reported a high frequency of PASC symptoms. Multidisciplinary approach is needed to care for these patients beyond the acute phase.
(Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

5. 6-month antibody kinetics and durability after four doses of a SARS-CoV-2 vaccine in solid organ transplant recipients. [2023]

  • Mitchell J, Chiang TP, Alejo JL, Kim JD, Chang A, Abedon AT, Avery RK, Tobian AAR, Levan ML, Warren DS, Garonzik-Wang JM, Segev DL, Massie AB, and Werbel WA
  • Clinical transplantation [Clin Transplant] 2023 Jan; Vol. 37 (1), pp. e14868. Date of Electronic Publication: 2022 Dec 07.
Subjects
Humans, COVID-19 Vaccines, Kinetics, SARS-CoV-2, Antibodies, Transplant Recipients, Antibodies, Viral, COVID-19 epidemiology, COVID-19 prevention control, and Organ Transplantation

6. Vergence/accommodative therapy for symptomatic convergence insufficiency in children: Time course of improvements in convergence function [2023]

  • Jenewein, Erin C., Cotter, Susan, Roberts, Tawna, Kulp, Marjean, Mitchell, G. Lynn, Jones‐Jordan, Lisa A., Chen, Angela M., Hopkins, Kristine, Huang, Kristine, Amster, Deborah, Fecho, Gregory, Tyler, Julie, Meiyeppen, Shivakhaami, Scheiman, Mitchell, Cooper, Jeffrey, Schulman, Erica, Hamian, Kimberly, Iacono, Danielle, Larson, Steven, Leung, Valerie, Meeder, Sara, Ramos, Elaine, Ritter, Steven, Steiner, Audra, Stormann, Alexandria, Vricella, Marilyn, Zhu, Xiaoying, Tamkins, Susanna, Aguilera, Naomi, Brafman, Elliot, Capo, Hilda, Cavuoto, Kara, Crespo, Isaura, Dowling, Monica, Draskovic, Kristie, Farag, Miriam, Fischer, Vicky, Grace, Sara, Gutierrez, Ailen, Manchola‐Orozco, Carolina, Martinez, Maria, McKeown, Craig, Osigian, Carla, Pham, Tuyet‐Suong, Small, Leslie, Townsend, Natalie, Gallaway, Michael, Boas, Mark, Calvert, Christine, Franz, Tara, Gerrouge, Amanda, Hayden, Donna, Margolies, Zachary, Myung, Jenny, Pollack, Karen, Shoge, Ruth, Tang, Andrew, Tannen, Noah, Trieu, Lynn, Trujillo, Luis, Buckland, Michelle, Ellis, Allison, Fogt, Jennifer, McDaniel, Catherine, McGann, Taylor, Morrison, Ann, Mulvihill, Shane, Peiffer, Adam, Plaumann, Maureen, Pierce, Gil, Preston, Julie, Reuter, Kathleen, Stevens, Nancy, Teeny, Jake, Toole, Andrew, Widmer, Douglas, Zimmerman, Aaron, Barnhardt, Carmen, Borsting, Eric, Chu, Raymond, Parker, Susan, Retnasothie, Dashaini, Wu, Judith, Hertle, Richard, Clark, Penny, Culp, Kelly, Fraley, Kathy, Grant, Drusilla, Hanna, Nancy, Knox, Stephanie, Lawhon, William, Li, Lan, Mitcheff, Sarah, Ricker, Isabel, Solis, Casandra, Wall, Palak, Zaczyk, Samantha, Marsh‐Tootle, Wendy, Bowen, Michelle, Call, Terri, Domnanovich, Kristy, Frazier, Marcela, Guyette, Nicole, Hayes, Oakley, Houser, John, Lee, Sarah, Montejo, Jenifer, Oechslin, Tamara, Turner, Candace, Weise, Katherine, Coulter, Rachel, Bade, Annette, Bansal, Surbhi, Falco, Laura, Green, Katherine, Irizarry, Gabriela, Jhajj, Jasleen, Patterson, Nicole, Rodena, Jacqueline, Tea, Yin, Weiss, Dana, Zakaib, Lauren, Lorenzana, Ingryd, Meza, Yesena, Mann, Ryan, Quezada, Mariana, Rein, Scott, Rudaitis, Indre, Stepleton, Susan, Wajs, Beata, Redford, Maryann, Denton, Carolyn, Arnold, Eugene, Chase, Christopher, Wee, Sharyl, Dahl‐Leonard, Katlynn, Powers, Kenneth, Alaniz, Amber, Diener‐West, Marie, Good, William V., Grisham, David, Kratochvil, Christopher J., Revicki, Dennis, Wanzek, Jeanne, Abraham, Mustafa, Dangelo, Julianne, Hegedus, Jordan, Jones, Ian, Junglas, Alexander, Lee, Jihyun, Nettles, Jadin, Mitchell, Curtis, Osman, Mawada, Scott‐Tibbs, Gloria, Sinnott, Loraine, Teasley, Chloe, Vang, Victor, and Varghese, Robin
  • Ophthalmic and physiological optics. 43(1):105-115

7. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. [2022]

  • Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw E, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Vazquez-Moreno M, Feitosa MF, Wojczynski MK, Wang Z, Preuss MH, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Tsao NL, Verma A, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Frank M, Schmidt B, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Bayyana S, Stringham HM, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Nardone GG, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Liang J, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Peyser PA, Kato N, Schulze MB, Girotto G, Böger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusié-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Hunt SC, Walker M, Koistinen HA, Chandak GR, Mercader JM, Costanzo MC, Jang D, Burtt NP, Villalpando CG, Orozco L, Fornage M, Tai E, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Jin ZB, Qu J, Hishigaki H, Lin X, März W, Gudnason V, Tardif JC, Lettre G, Hart LM', Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Parra EJ, Cruz M, Psaty BM, Brandslund I, Pramstaller PP, Rotimi CN, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Francesco C, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Chuang LM, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Li H, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, Willemsen AHM, Cupples L, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, Hazelhurst S, Ramsay M, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Baras A, Justice AE, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Tamiya G, Yamamoto M, van Heel DA, Trembath RC, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Kim BJ, Thorsteinsdottir U, Stefansson K, Zhang J, Chen Y, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson PWF, Frayling TM, Hirschhorn JN, Kathiresan S, Mohlke KL, Sun YV, Morris AP, Boehnke M, Brown CD, Natarajan P, Deloukas P, Willer CJ, Assimes TL, and Peloso GM
  • Genome biology [Genome Biol] 2022 Dec 27; Vol. 23 (1), pp. 268. Date of Electronic Publication: 2022 Dec 27.
Subjects
Humans, Sex Characteristics, Phenotype, Lipids genetics, Polymorphism, Single Nucleotide, Genetic Pleiotropy, Genome-Wide Association Study, and Genetic Predisposition to Disease
Abstract
Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.
Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.
Conclusions: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
(© 2022. The Author(s).)

8. Genetic diversity fuels gene discovery for tobacco and alcohol use [2022]

  • Saunders, Gretchen R. B., Wang, Xingyan, Chen, Fang, Jang, Seon-Kyeong, Liu, Mengzhen, Wang, Chen, Gao, Shuang, Jiang, Yu, Khunsriraksakul, Chachrit, Otto, Jacqueline M., Addison, Clifton, Akiyama, Masato, Albert, Christine M., Aliev, Fazil, Alonso, Alvaro, Arnett, Donna K., Ashley-Koch, Allison E., Ashrani, Aneel A., Barnes, Kathleen C., Barr, R. Graham, Bartz, Traci M., Becker, Diane M., Bielak, Lawrence F., Benjamin, Emelia J., Bis, Joshua C., Bjornsdottir, Gyda, Blangero, John, Bleecker, Eugene R., Boardman, Jason D., Boerwinkle, Eric, Boomsma, Dorret I., Boorgula, Meher Preethi, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chasman, Daniel I., Chavan, Sameer, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Iona, Cho, Michael H., Choquet, Hélène, Cole, John W., Cornelis, Marilyn C., Cucca, Francesco, Curran, Joanne E., de Andrade, Mariza, Dick, Danielle M., Docherty, Anna R., Duggirala, Ravindranath, Eaton, Charles B., Ehringer, Marissa A., Esko, Tõnu, Faul, Jessica D., Fernandes Silva, Lilian, Fiorillo, Edoardo, Fornage, Myriam, Freedman, Barry I., Gabrielsen, Maiken E., Garrett, Melanie E., Gharib, Sina A., Gieger, Christian, Gillespie, Nathan, Glahn, David C., Gordon, Scott D., Gu, Charles C., Gu, Dongfeng, Gudbjartsson, Daniel F., Guo, Xiuqing, Haessler, Jeffrey, Hall, Michael E., Haller, Toomas, Harris, Kathleen Mullan, He, Jiang, Herd, Pamela, Hewitt, John K., Hickie, Ian, Hidalgo, Bertha, Hokanson, John E., Hopfer, Christian, Hottenga, JoukeJan, Hou, Lifang, Huang, Hongyan, Hung, Yi-Jen, Hunter, David J., Hveem, Kristian, Hwang, Shih-Jen, Hwu, Chii-Min, Iacono, William, Irvin, Marguerite R., Jee, Yon Ho, Johnson, Eric O., Joo, Yoonjung Y., Jorgenson, Eric, Justice, Anne E., Kamatani, Yoichiro, Kaplan, Robert C., Kaprio, Jaakko, Kardia, Sharon L. R., Keller, Matthew C., Kelly, Tanika N., Kooperberg, Charles, Korhonen, Tellervo, Kraft, Peter, Krauter, Kenneth, Kuusisto, Johanna, Laakso, Markku, Lasky-Su, Jessica, Lee, Wen-Jane, Lee, James J., Levy, Daniel, Li, Liming, Li, Kevin, Li, Yuqing, Lin, Kuang, Lind, Penelope A., Liu, Chunyu, Lloyd-Jones, Donald M., Lutz, Sharon M., Ma, Jiantao, Mägi, Reedik, Manichaikul, Ani, Martin, Nicholas G., Mathur, Ravi, Matoba, Nana, McArdle, Patrick F., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Meyers, Deborah A., Millwood, Iona Y., Mitchell, Braxton D., Mohlke, Karen L., Moll, Matthew, Montasser, May E., Morrison, Alanna C., Mulas, Antonella, Nielsen, Jonas B., North, Kari E., Oelsner, Elizabeth C., Okada, Yukinori, Orrù, Valeria, Palmer, Nicholette D., Palviainen, Teemu, Pandit, Anita, Park, S. Lani, Peters, Ulrike, Peters, Annette, Peyser, Patricia A., Polderman, Tinca J. C., Rafaels, Nicholas, Redline, Susan, Reed, Robert M., Reiner, Alex P., Rice, John P., Rich, Stephen S., Richmond, Nicole E., Roan, Carol, Rotter, Jerome I., Rueschman, Michael N., Runarsdottir, Valgerdur, Saccone, Nancy L., Schwartz, David A., Shadyab, Aladdin H., Shi, Jingchunzi, Shringarpure, Suyash S., Sicinski, Kamil, Skogholt, Anne Heidi, Smith, Jennifer A., Smith, Nicholas L., Sotoodehnia, Nona, Stallings, Michael C., Stefansson, Hreinn, Stefansson, Kari, Stitzel, Jerry A., Sun, Xiao, Syed, Moin, Tal-Singer, Ruth, Taylor, Amy E., Taylor, Kent D., Telen, Marilyn J., Thai, Khanh K., Tiwari, Hemant, Turman, Constance, Tyrfingsson, Thorarinn, Wall, Tamara L., Walters, Robin G., Weir, David R., Weiss, Scott T., White, Wendy B., Whitfield, John B., Wiggins, Kerri L., Willemsen, Gonneke, Willer, Cristen J., Winsvold, Bendik S., Xu, Huichun, Yanek, Lisa R., Yin, Jie, Young, Kristin L., Young, Kendra A., Yu, Bing, Zhao, Wei, Zhou, Wei, Zöllner, Sebastian, Zuccolo, Luisa, Batini, Chiara, Bergen, Andrew W., Bierut, Laura J., David, Sean P., Gagliano Taliun, Sarah A., Hancock, Dana B., Jiang, Bibo, Munafò, Marcus R., Thorgeirsson, Thorgeir E., Liu, Dajiang J., and Vrieze, Scott
  • Nature; December 2022, Vol. 612 Issue: 7941 p720-724, 5p
Abstract
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1–4. These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries5. Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. We found that increases in sample size and genetic diversity improved locus identification and fine-mapping resolution, and that a large majority of the 3,823 associated variants (from 2,143 loci) showed consistent effect sizes across ancestry dimensions. However, polygenic risk scores developed in one ancestry performed poorly in others, highlighting the continued need to increase sample sizes of diverse ancestries to realize any potential benefit of polygenic prediction.

9. Cardiovascular magnetic resonance-derived left ventricular intraventricular pressure gradients among patients with precapillary pulmonary hypertension. [2022]

  • Vos JL, Leiner T, van Dijk APJ, Pedrizzetti G, Alenezi F, Rodwell L, van der Wegen CTPM, Post MC, Driessen MMP, and Nijveldt R
  • European heart journal. Cardiovascular Imaging [Eur Heart J Cardiovasc Imaging] 2022 Dec 19; Vol. 24 (1), pp. 78-87.
Subjects
Humans, Ventricular Pressure, Cross-Sectional Studies, Heart Ventricles, Ventricular Function, Left, Stroke Volume, Magnetic Resonance Spectroscopy, Hypertension, Pulmonary, and Ventricular Dysfunction, Left
Abstract
Aims: Precapillary pulmonary hypertension (pPH) affects left ventricular (LV) function by ventricular interdependence. Since LV ejection fraction (EF) is commonly preserved, LV dysfunction should be assessed with more sensitive techniques. Left atrial (LA) strain and estimation of LV intraventricular pressure gradients (IVPG) may be valuable in detecting subtle changes in LV mechanics; however, the value of these techniques in pPH is unknown. Therefore, the aim of our study is to evaluate LA strain and LV-IVPGs from cardiovascular magnetic resonance (CMR) cines in pPH patients.
Methods and Results: In this cross-sectional study, 31 pPH patients and 22 healthy volunteers underwent CMR imaging. Feature-tracking LA strain was measured on four- and two-chamber cines. LV-IVPGs (from apex-base) are computed from a formulation using the myocardial movement and velocity of the reconstructed 3D-LV (derived from long-axis cines using feature-tracking). Systolic function, both LV EF and systolic ejection IVPG, was preserved in pPH patients. Compared to healthy volunteers, diastolic function was impaired in pPH patients, depicted by (i) lower LA reservoir (36 ± 7% vs. 26 ± 9%, P < 0.001) and conduit strain (26 ± 6% vs. 15 ± 8%, P < 0.001) and (ii) impaired diastolic suction (-9.1 ± 3.0 vs. ‒6.4 ± 4.4, P = 0.02) and E-wave decelerative IVPG (8.9 ± 2.6 vs. 5.7 ± 3.1, P < 0.001). Additionally, 11 pPH patients (35%) showed reversal of IVPG at systolic-diastolic transition compared to none of the healthy volunteers (P = 0.002).
Conclusions: pPH impacts LV function by altering diastolic function, demonstrated by an impairment of LA phasic function and LV-IVPG analysis. These parameters could therefore potentially be used as early markers for LV functional decline in pPH patients.
Competing Interests: Conflict of interest: none declared.
(© Crown copyright 2022.)

10. Circulating adipose tissue proteins involved in atrial fibrillation: An explorative scoping review. [2022]

  • Meulendijks ER, Krul SPJ, Baalman SW, de Vries TAC, Wesselink R, Ernault AC, Kawasaki M, Al-Shama R, Neefs J, Limpens J, and de Groot JR
  • Trends in cardiovascular medicine [Trends Cardiovasc Med] 2022 Dec 17. Date of Electronic Publication: 2022 Dec 17.
Abstract
Obesity increases the risk of atrial fibrillation (AF), potentially through proteins secreted by adipose tissue (AT) that affect atrial electrical and structural remodeling. We aim to give a comprehensive overview of circulating AT proteins involved in inflammation and fibrosis, that are associated with prevalent AF (paroxysmal or persistent) and the risk on developing new-onset AF. These include adipokines, defined as proteins enriched in AT as adiponectin, but also proteins less specific to AT. We systematically performed an explorative search for studies reporting associations between proteins secreted from cells residing in the AT and AF, and additionally assessed the effect of obesity on these proteins by a secondary search. The AT proteins involved in inflammation were mostly increased in patients with prevalent and new-onset AF, and with obesity, while the AT enriched adipokines were mostly not associated with AF. This review provides insight into circulating adipose tissue proteins involved in AF substrate formation.
(Copyright © 2022. Published by Elsevier Inc.)

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