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1. Long Term Cardiotoxicity Surveillance in HSCT

Author

Safaei Nodehi, Seyed Reza, Alizadehasl, Azin, Roudini, Kamran, Ranjbar, Hossein, Akbari Parsa, Niloufar, Alizadehasl, Azin, editor, Ghavamzadeh, Ardeshir, editor, Emami, Amir Hossein, editor, Janbabaei, Ghasem, editor, and Khoda-Amorzideh, Davood, editor

Published
2024
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2. A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

Author

Akbari, Parsa, Vuckovic, Dragana, Stefanucci, Luca, Jiang, Tao, Kundu, Kousik, Kreuzhuber, Roman, Bao, Erik L., Collins, Janine H., Downes, Kate, Grassi, Luigi, Guerrero, Jose A., Kaptoge, Stephen, Knight, Julian C., Meacham, Stuart, Sambrook, Jennifer, Seyres, Denis, Stegle, Oliver, Verboon, Jeffrey M., Walter, Klaudia, Watkins, Nicholas A., Danesh, John, Roberts, David J., Di Angelantonio, Emanuele, Sankaran, Vijay G., Frontini, Mattia, Burgess, Stephen, Kuijpers, Taco, Peters, James E., Butterworth, Adam S., Ouwehand, Willem H., Soranzo, Nicole, and Astle, William J.

Published
2023
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3. Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis

Author

Zhou, Sirui, Sosina, Olukayode A., Bovijn, Jonas, Laurent, Laetitia, Sharma, Vasundhara, Akbari, Parsa, Forgetta, Vincenzo, Jiang, Lai, Kosmicki, Jack A., Banerjee, Nilanjana, Morris, John A., Oerton, Erin, Jones, Marcus, LeBlanc, Michelle G., Idone, Vincent, Overton, John D., Reid, Jeffrey G., Cantor, Michael, Abecasis, Goncalo R., Goltzman, David, Greenwood, Celia M. T., Langenberg, Claudia, Baras, Aris, Economides, Aris N., Ferreira, Manuel A. R., Hatsell, Sarah, Ohlsson, Claes, Richards, J. Brent, and Lotta, Luca A.

Published
2023
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4. Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

Author

Akbari, Parsa, Gilani, Ankit, Sosina, Olukayode, Kosmicki, Jack A, Khrimian, Lori, Fang, Yi-Ya, Persaud, Trikaldarshi, Garcia, Victor, Sun, Dylan, Li, Alexander, Mbatchou, Joelle, Locke, Adam E, Benner, Christian, Verweij, Niek, Lin, Nan, Hossain, Sakib, Agostinucci, Kevin, Pascale, Jonathan V, Dirice, Ercument, Dunn, Michael, Center‡, Regeneron Genetics, Collaboration‡, DiscovEHR, Kraus, William E, Shah, Svati H, Chen, Yii-Der I, Rotter, Jerome I, Rader, Daniel J, Melander, Olle, Still, Christopher D, Mirshahi, Tooraj, Carey, David J, Berumen-Campos, Jaime, Kuri-Morales, Pablo, Alegre-Díaz, Jesus, Torres, Jason M, Emberson, Jonathan R, Collins, Rory, Balasubramanian, Suganthi, Hawes, Alicia, Jones, Marcus, Zambrowicz, Brian, Murphy, Andrew J, Paulding, Charles, Coppola, Giovanni, Overton, John D, Reid, Jeffrey G, Shuldiner, Alan R, Cantor, Michael, Kang, Hyun M, Abecasis, Goncalo R, Karalis, Katia, Economides, Aris N, Marchini, Jonathan, Yancopoulos, George D, Sleeman, Mark W, Altarejos, Judith, Della Gatta, Giusy, Tapia-Conyer, Roberto, Schwartzman, Michal L, Baras, Aris, Ferreira, Manuel AR, and Lotta, Luca A

Subjects
Prevention, Human Genome, Nutrition, Genetics, Obesity, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Stroke, Oral and gastrointestinal, Cardiovascular, Animals, Body Mass Index, Exome, Genetic Variation, Humans, Mice, Mice, Knockout, Receptors, G-Protein-Coupled, Sequence Analysis, DNA, Weight Gain, Regeneron Genetics Center, DiscovEHR Collaboration, General Science & Technology
Abstract

Large-scale human exome sequencing can identify rare protein-coding variants with a large impact on complex traits such as body adiposity. We sequenced the exomes of 645,626 individuals from the United Kingdom, the United States, and Mexico and estimated associations of rare coding variants with body mass index (BMI). We identified 16 genes with an exome-wide significant association with BMI, including those encoding five brain-expressed G protein-coupled receptors (CALCR, MC4R, GIPR, GPR151, and GPR75). Protein-truncating variants in GPR75 were observed in ~4/10,000 sequenced individuals and were associated with 1.8 kilograms per square meter lower BMI and 54% lower odds of obesity in the heterozygous state. Knock out of Gpr75 in mice resulted in resistance to weight gain and improved glycemic control in a high-fat diet model. Inhibition of GPR75 may provide a therapeutic strategy for obesity.

Published
2021

5. Biological and aetiological inference from the statistical genetic analyses of blood cell traits

Author

Akbari, Parsa, Astle, William, Soranzo, Nicole, Butterworth, Adam, and Ouwehand, Willem

Subjects
612.1, genetics, computing, statistics, haematology, statistical genetics, disease, immune, cardiovascular
Abstract

Blood cells are crucial to human physiology, with functions in oxygen transport, infection control, and wound healing. Molecular mechanisms endogenous to blood cells have been implicated in the aetiologies of cancer, infection and inflammatory and immune disorders. The genetic determinants of blood cell function have not been comprehensively characterised, because it is too difficult to perform direct assays of cell function in large population samples. High-throughput flow cytometry can be used to measure functionally relevant phenotypes such as cell granulation, nucleic acid content, and cell size. Many of these phenotypes are important for the diagnosis of diseases such as sepsis, Szary disease, toxic granulation, and myelodysplastic syndromes, or correlate with assessments of cell morphology from blood smear images. Here, I report the results of my genome- wide association study of 63 previously genetically unstudied blood cell flow cytometry phenotypes. I have identified associated variants in loci containing genes coding for established drug targets with known roles in white cell function and immunity. I have colocalised the association signals with blood cell transcriptomic, blood proteomic, and disease risk, identifying possible causal roles for molecular mechanisms endogenous to white cells in the aetiology of a range of immune disorders, including atopic dermatitis, multiple sclerosis and celiac disease. My results have utility in drug design and therapeutic target selection, demonstrated by examples including the replication of the mechanism of action of Daclizumab, a treatment for multiple sclerosis, and evidence for the role of IL-18R1 in aetiology of celiac disease. Furthermore, mendelian randomisation analyses suggest a causal role for blood cell flow cytometry phenotypes in the aetiology of coronary artery disease, lung cancer, and asthma. In addition to my work on flow cytometry traits, I report a major contribution to the largest ever GWAS meta-analysis of routine clinical haematological phenotypes, including 563,085 individuals. I performed primary and conditional analyses, identifying parsimonious sets of independently associated variants. This is the largest genome-wide association study study of clinical haematological phenotypes to date and identifies 7,122 association signals.

Published
2020
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6. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

Author

Chen, Ming-Huei, Raffield, Laura M, Mousas, Abdou, Sakaue, Saori, Huffman, Jennifer E, Moscati, Arden, Trivedi, Bhavi, Jiang, Tao, Akbari, Parsa, Vuckovic, Dragana, Bao, Erik L, Zhong, Xue, Manansala, Regina, Laplante, Véronique, Chen, Minhui, Lo, Ken Sin, Qian, Huijun, Lareau, Caleb A, Beaudoin, Mélissa, Hunt, Karen A, Akiyama, Masato, Bartz, Traci M, Ben-Shlomo, Yoav, Beswick, Andrew, Bork-Jensen, Jette, Bottinger, Erwin P, Brody, Jennifer A, van Rooij, Frank JA, Chitrala, Kumaraswamynaidu, Cho, Kelly, Choquet, Hélène, Correa, Adolfo, Danesh, John, Di Angelantonio, Emanuele, Dimou, Niki, Ding, Jingzhong, Elliott, Paul, Esko, Tõnu, Evans, Michele K, Floyd, James S, Broer, Linda, Grarup, Niels, Guo, Michael H, Greinacher, Andreas, Haessler, Jeff, Hansen, Torben, Howson, Joanna MM, Huang, Qin Qin, Huang, Wei, Jorgenson, Eric, Kacprowski, Tim, Kähönen, Mika, Kamatani, Yoichiro, Kanai, Masahiro, Karthikeyan, Savita, Koskeridis, Fotis, Lange, Leslie A, Lehtimäki, Terho, Lerch, Markus M, Linneberg, Allan, Liu, Yongmei, Lyytikäinen, Leo-Pekka, Manichaikul, Ani, Martin, Hilary C, Matsuda, Koichi, Mohlke, Karen L, Mononen, Nina, Murakami, Yoshinori, Nadkarni, Girish N, Nauck, Matthias, Nikus, Kjell, Ouwehand, Willem H, Pankratz, Nathan, Pedersen, Oluf, Preuss, Michael, Psaty, Bruce M, Raitakari, Olli T, Roberts, David J, Rich, Stephen S, Rodriguez, Benjamin AT, Rosen, Jonathan D, Rotter, Jerome I, Schubert, Petra, Spracklen, Cassandra N, Surendran, Praveen, Tang, Hua, Tardif, Jean-Claude, Trembath, Richard C, Ghanbari, Mohsen, Völker, Uwe, Völzke, Henry, Watkins, Nicholas A, Zonderman, Alan B, Program, VA Million Veteran, Wilson, Peter WF, Li, Yun, Butterworth, Adam S, Gauchat, Jean-François, Chiang, Charleston WK, and Li, Bingshan

Subjects
Genetics, Good Health and Well Being, Asian People, Genome-Wide Association Study, HEK293 Cells, Humans, Interleukin-7, Mutation, Missense, Phenotype, Polymorphism, Single Nucleotide, White People, VA Million Veteran Program, interleukin-7, genetic architecture, fine-mapping, selective sweeps, polygenic trait score, phenome-wide association study, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Most loci identified by GWASs have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 non-EUR individuals, we identified 5,552 trait-variant associations at p < 5 × 10-9, including 71 novel associations not found in EUR populations. We also identified 28 additional novel variants in ancestry-specific, non-EUR meta-analyses, including an IL7 missense variant in South Asians associated with lymphocyte count in vivo and IL-7 secretion levels in vitro. Fine-mapping prioritized variants annotated as functional and generated 95% credible sets that were 30% smaller when using the trans-ethnic as opposed to the EUR-only results. We explored the clinical significance and predictive value of trans-ethnic variants in multiple populations and compared genetic architecture and the effect of natural selection on these blood phenotypes between populations. Altogether, our results for hematological traits highlight the value of a more global representation of populations in genetic studies.

Published
2020

8. “PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black Patients”

Author

Cappadocia, Jacqueline, primary, Aiello, Lisa B., additional, Kelley, Michael J., additional, Katona, Bryson W., additional, Maxwell, Kara N., additional, Verma, Anurag, additional, Verma, Shefali S., additional, Bradford, Yuki, additional, Brock, Ashlei, additional, DerOhannessian, Stephanie, additional, Dudek, Scott, additional, Dunn, Joseph, additional, Drivas, Theodore, additional, Haubein, Ned, additional, Hu-Sain, Khadijah, additional, Judy, Renae, additional, Kloter, Ashley, additional, Ko, Yi-An, additional, Livingstone, Meghan, additional, Morrel, Linda, additional, Morse, Colleen, additional, Poindexter, Afiya, additional, Risman, Marjorie, additional, Tran, Teo, additional, Vadivieso, Fred, additional, Weaver, JoEllen, additional, Rader, Daniel J., additional, Ritchie, Marylyn D., additional, Feldman, Michael D., additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Overton, John D., additional, Padilla, Maria Sotiropoulos, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Schleicher, Thomas D., additional, Widom, Louis, additional, Wolf, Sarah E., additional, Ulloa, Ricardo H., additional, Averitt, Amelia, additional, Banerjee, Nilanjana, additional, Cantor, Michael, additional, Li, Dadong, additional, Malhotra, Sameer, additional, Sharma, Deepika, additional, Staples, Jeffrey, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Bao, Suying, additional, Boutkov, Boris, additional, Chen, Siying, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mitra, George, additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Reid, Jeffrey G., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Abecasis, Goncalo, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Revez Ferreira, Manuel Allen, additional, Ghosh, Arkopravo, additional, Gillies, Christopher, additional, Gurski, Lauren, additional, Jorgenson, Eric, additional, Kang, Hyun Min, additional, Kessler, Michael, additional, Kosmicki, Jack, additional, Li, Alexander, additional, Lin, Nan, additional, Liu, Daren, additional, Locke, Adam, additional, Marchini, Jonathan, additional, Marcketta, Anthony, additional, Mbatchou, Joelle, additional, Moscati, Arden, additional, Paulding, Charles, additional, Sidore, Carlo, additional, Stahl, Eli, additional, Watanabe, Kyoko, additional, Ye, Bin, additional, Zhang, Blair, additional, Ziyatdinov, Andrey, additional, Ayer, Ariane, additional, Guvenek, Aysegul, additional, Hindy, George, additional, Coppola, Giovanni, additional, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Siminovitch, Katherine, additional, Praveen, Kavita, additional, Lotta, Luca A., additional, Kapoor, Manav, additional, Haas, Mary, additional, Riaz, Moeen, additional, Verweij, Niek, additional, Sosina, Olukayode, additional, Akbari, Parsa, additional, Nakka, Priyanka, additional, Gelfman, Sahar, additional, Gokhale, Sujit, additional, De, Tanima, additional, Rajagopal, Veera, additional, Shuldiner, Alan, additional, Tzoneva, Gannie, additional, Rodriguez-Flores, Juan, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, Rana, Nadia, additional, Hernandez, Jaimee, additional, Baras, Aris, additional, Deubler, Andrew, additional, and Economides, Aris, additional

Published
2024
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9. Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

Author

Akbari, Parsa, Sosina, Olukayode A., Bovijn, Jonas, Landheer, Karl, Nielsen, Jonas B., Kim, Minhee, Aykul, Senem, De, Tanima, Haas, Mary E., Hindy, George, Lin, Nan, Dinsmore, Ian R., Luo, Jonathan Z., Hectors, Stefanie, Geraghty, Benjamin, Germino, Mary, Panagis, Lampros, Parasoglou, Prodromos, Walls, Johnathon R., Halasz, Gabor, Atwal, Gurinder S., Jones, Marcus, LeBlanc, Michelle G., Still, Christopher D., Carey, David J., Giontella, Alice, Orho-Melander, Marju, Berumen, Jaime, Kuri-Morales, Pablo, Alegre-Díaz, Jesus, Torres, Jason M., Emberson, Jonathan R., Collins, Rory, Rader, Daniel J., Zambrowicz, Brian, Murphy, Andrew J., Balasubramanian, Suganthi, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Cantor, Michael, Abecasis, Goncalo R., Ferreira, Manuel A. R., Sleeman, Mark W., Gusarova, Viktoria, Altarejos, Judith, Harris, Charles, Economides, Aris N., Idone, Vincent, Karalis, Katia, Della Gatta, Giusy, Mirshahi, Tooraj, Yancopoulos, George D., Melander, Olle, Marchini, Jonathan, Tapia-Conyer, Roberto, Locke, Adam E., Baras, Aris, Verweij, Niek, and Lotta, Luca A.

Published
2022
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10. CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia

Author

Bennett, Cavan, Lawrence, Moyra, Guerrero, Jose A., Stritt, Simon, Waller, Amie K., Yan, Yahui, Mifsud, Richard W., Ballester-Beltrán, Jose, Baig, Ayesha, Mueller, Annett, Mayer, Louisa, Warland, James, Penkett, Christopher J., Akbari, Parsa, Moreau, Thomas, Evans, Amanda L., Mookerjee, Souradip, Hoffman, Gary J., Saeb-Parsy, Kourosh, Adams, David J., Couzens, Amber L., Bender, Markus, Erber, Wendy N., Nieswandt, Bernhard, Read, Randy J., and Ghevaert, Cedric

Published
2022
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12. Cardio-Oncology in Iran

Author

Alizadehasl, Azin, Noohi, Feridoun, Maleki, Majid, Peyghambari, Mohammad Mehdi, Akbari Parsa, Niloufar, Emami, Amir Hossein, Moosavi, Asadollah, Hagh Azali, Mehrdad, Pouraliakbar, Hamidreza, and Azadeh, Payam

Published
2021
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13. Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers

Author

Wineland, Dylane, Le, Anh N., Hausler, Ryan, Kelly, Gregory, Barrett, Emanuel, Desai, Heena, Wubbenhorst, Bradley, Pluta, John, Bastian, Paul, Symecko, Heather, DʼAndrea, Kurt, Doucette, Abigail, Gabriel, Peter, Reiss, Kim A., Nayak, Anupma, Feldman, Michael, Domchek, Susan M., Nathanson, Katherine L., Maxwell, Kara N., Mansfield, Adam J., Locke, Adam, Poindexter, Afiya, Shuldiner, Alan, Li, Alexander, Lopez, Alexander, Hawes, Alicia, Averitt, Amelia, Damask, Amy, Deubler, Andrew, Ziyatdinov, Andrey, Marcketta, Anthony, Verma, Anurag, Moscati, Arden, Ayer, Ariane, Baras, Aris, Economides, Aris, Ghosh, Arkopravo, Brock, Ashlei, Kloter, Ashley, Rasool, Ayesha, Guvenek, Aysegul, Ye, Bin, Zhang, Blair, Boutkov, Boris, Forsythe, Caitlin, Sidore, Carlo, Paulding, Charles, Beechert, Christina, Gillies, Christopher, Morse, Colleen, Li, Dadong, Rader, Daniel J., Liu, Daren, Sharma, Deepika, Stahl, Eli, Jorgenson, Eric, Fuller, Erin D., Chen, Esteban, Maxwell, Evan K., Vadivieso, Fred, Tzoneva, Gannie, Hindy, George, Mitra, George, Coppola, Giovanni, Eom, Gisu, Abecasis, Goncalo, Kang, Hyun Min, Kosmicki, Jack, Hernandez, Jaimee, Freudenberg, Jan, Mighty, Jason, Staples, Jeffrey C., Reid, Jeffrey G., Mbatchou, Joelle, Weaver, JoEllen, Overton, John D., Bovijn, Jonas, Marchini, Jonathan, Dunn, Joseph, Backman, Joshua, Rodriguez-Flores, Juan, Siminovitch, Katherine, Sun, Kathie, Praveen, Kavita, Hu-Sain, Khadijah, Manoochehri, Kia, Watanabe, Kyoko, Gurski, Lauren, Dobbyn, Lee, Morrel, Linda, Widom, Louis, Lotta, Luca A., Habegger, Lukas, Mitnaul, Lyndon J., Pradhan, Manasi, Kapoor, Manav, Ferreira, Manuel Allen Revez, Jones, Marcus B., Padilla, Maria Sotiropoulos, Risman, Marjorie, Haas, Mary, Ritchie, Marylyn D., Orelus, Max, Livingstone, Meghan, Cantor, Michael, Feldman, Michael D., Kessler, Michael, Lattari, Michael, LeBlanc, Michelle G., Riaz, Moeen, Nafde, Mona, Rana, Nadia, Lin, Nan, Haubein, Ned, Verweij, Niek, Banerjee, Nilanjana, Nishtala, Nirupama, Krasheninina, Olga, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Panea, Razvan, Judy, Renae, Ulloa, Ricardo H., Lanche, Rouel, Gelfman, Sahar, Malhotra, Sameer, Wolf, Sarah E., Dudek, Scott, OʼKeeffe, Sean, Khalid, Shareef, Verma, Shefali S., Chen, Siying, DerOhannessian, Stephanie, Balasubramanian, Suganthi, Gokhale, Sujit, Bao, Suying, De, Tanima, Tran, Teo, Drivas, Theodore, Schleicher, Thomas D., Polanco, Tommy, Rajagopal, Veera, Salerno, William, Bai, Xiaodong, Ko, Yi-An, Bradford, Yuki, and Gu, Zhenhua

Published
2023
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14. Cardio-Oncology in Iran: Cardio-toxicity Registry

Author

Azin Alizadehasl, Niloufar Akbari Parsa, Feridoun Noohi, Reza Golpira, Amir Abdi, Amir Hossein Emami, Asadollah Moosavi, and Ghasem Janbabaei

Subjects
Cancer, Cardiotoxicity, Cardio-Oncology, Rejistery, Medicine
Abstract

Advances in cancer treatment have resulted in a growing number of cancer survivors.However, powerful treatments such as chemotherapy, radiation treatments, and some cancer drugs are not without risks, including the potential for serious, long-term damage to the heart. Cardiology and oncology specialists often collaborate to mitigate these risks when treating cancer patients. This joining is known as cardio-oncology. The main goals of cardio-oncology are to screen for and actively manage modifiable cardiovascular risk factors and diseases in cancer patients. Cardio-oncology plays an increasingly active role at every stage of cancer therapy, including baseline risk assessment pretreatment, surveillance and prevention during treatment, response to acute complications, and assessment of survivors’ post-cardiotoxic treatments. Cancer treatment has been optimized through new treatment strategies. The first cardio-oncology clinic in Iran was instituted about 4 years ago (2017) at Shaheed Rajaei Cardiovascular Medical and Research Center in Tehran, which is the first cardio-oncology clinic in the Middle East. It provides care for cancer patients with a history of cardiovascular disease or risk for cardiotoxicity during cancer therapy. Also, all patients are enrolled in the multicenter cardio-oncology Toxicity Registry research database, and 13 other hospitals from different centers in the whole country are involved in the registry. The establishment of the cardio-oncology clinic with a focus on the patient registry is discussed in this article.

Published
2022
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15. Genome Wide Association Analysis of Neutrophil Granularity Identifies Cdk6 as a Regulator of Neutrophil Development

Author

Fleming, Kathryn, primary, Burley, Kate, additional, Ponce-Garcia, Fernando M., additional, Akbari, Parsa, additional, Naveh, Claire, additional, Rice, Chris, additional, Zakrzewski, Przemyslav, additional, Gibbs, Willem, additional, Groves, Sarah, additional, Harbort, Christopher J., additional, Mumford, Andrew, additional, and Amulic, Borko, additional

Published
2024
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16. The factors related to hospitalization period in patients with acute myocardial infarction treated after primary percutaneous coronary intervention

Author

Fardin Mirbolouk, Arsalan Salari, Mahboobeh Gholipour, Salman Nikfarjam, Reza Pourbahador, Hamideh Mohamadnia, and Niloufar Akbari-Parsa

Subjects
myocardial infarction, percutaneous coronary intervention, length of stay, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

BACKGROUND: Decreasing the hospital length of stay (LOS) in ST-segment elevation myocardial infarction (STEMI) after primary percutaneous coronary intervention (PPCI) is an issue which is related to reducing hospital costs. This study was aimed to determine the average number of hospital LOS among patients with STEMI treated by PPCI and predictors of longer LOS.METHODS: This cross-sectional study was performed on 561 patients with STEMI who referred to Heshmat Hospital, Rasht, north of Iran, within 2015-2018. As soon as STEMI was detected, patients were transferred to the catheterization laboratory (cath lab) in the shortest possible time and underwent PPCI. A questionnaire including characteristics of patients, procedures, and in-hospital adverse events was completed. Data were analyzed with SPSS software.RESULTS: The mean age of patients was 59.36 ± 11.90 years. 74.2% (n = 416) of subjects were men and 25.8% (n = 145) were women. The hospital LOS of 3 to 6 days had the highest prevalence up to 47%. The results of the multiple logistic regression showed that risk of hospital LOS > 6 days in unsuccessful percutaneous coronary intervention (PCI) was 33.2 versus 66.8 in successful PCI (P = 0.001). Moreover, the risk of hospital LOS > 6 days in subjects who had post-procedure complication, problems at admission, and primary comorbidities was 9.13 (7.22-11.53)-fold, 4.09 (2.86-5.85)-fold, and 1.75 (1.35-2.27)-fold more than those who had not, respectivelyCONCLUSION: By identifying controllable predictive factors associated with prolonged hospitalization after PPCI, the length of hospitalization can be decreased; also, the patient remission can be enhanced and hospital costs reduced.

Published
2020
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17. New records of Mesobuthus rakhshanii Barahoei, 2022 in Iran (Scorpiones: Buthidae).

Author

Yağmur, Ersen Aydın, Baghernavesi, Zhale, Taherkhani, Zahra, Akbari, Parsa, and Moradi, Mohammad

Subjects
SCORPIONS, PROVINCES, SPECIES
Abstract

Mesobuthus rakhshanii Barahoei, 2022 (Scorpiones: Buthidae) was so far known only from the type locality in Sistan and Baluchestan Province, Iran. We give a list of numerous new records of this species from the same province. A map and detailed illustrations are provided. [ABSTRACT FROM AUTHOR]

Published
2024

18. PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients

Author

Verma, Anurag, Verma, Shefali S., Bradford, Yuki, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Dunn, Joseph, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Kloter, Ashley, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Poindexter, Afiya, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Sun, Kathie, Abecasis, Goncalo, Backman, Joshua, Damask, Amy, Dobbyn, Lee, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Ayer, Ariane, Guvenek, Aysegul, Hindy, George, Coppola, Giovanni, Freudenberg, Jan, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Haas, Mary, Riaz, Moeen, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gelfman, Sahar, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Shuldiner, Alan, Tzoneva, Gannie, Rodriguez-Flores, Juan, Chen, Esteban, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Baras, Aris, Deubler, Andrew, Economides, Aris, Cappadocia, Jacqueline, Aiello, Lisa B., Kelley, Michael J., Katona, Bryson W., and Maxwell, Kara N.

Published
2024
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19. Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

Author

Xiao, Brenda, primary, Velez Edwards, Digna R., additional, Lucas, Anastasia, additional, Drivas, Theodore, additional, Gray, Kathryn, additional, Keating, Brendan, additional, Weng, Chunhua, additional, Jarvik, Gail P., additional, Hakonarson, Hakon, additional, Kottyan, Leah, additional, Elhadad, Noemie, additional, Wei, Wei‐Qi, additional, Luo, Yuan, additional, Kim, Dokyoon, additional, Ritchie, Marylyn, additional, Verma, Shefali Setia, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Deubler, Andrew, additional, Economides, Aris, additional, Karalis, Katia, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Siminovitch, Katherine, additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Padilla, Maria Sotiropoulos, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Schleicher, Thomas D., additional, Widom, Louis, additional, Wolf, Sarah E., additional, Ulloa, Ricardo H., additional, Averitt, Amelia, additional, Banerjee, Nilanjana, additional, Li, Dadong, additional, Malhotra, Sameer, additional, Sharma, Deepika, additional, Staples, Jeffrey, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Bao, Suying, additional, Boutkov, Boris, additional, Chen, Siying, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mitra, George, additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Ferreira, Manuel Allen Revez, additional, Ghosh, Arkopravo, additional, Gillies, Christopher, additional, Gurski, Lauren, additional, Jorgenson, Eric, additional, Kang, Hyun Min, additional, Kessler, Michael, additional, Kosmicki, Jack, additional, Li, Alexander, additional, Lin, Nan, additional, Liu, Daren, additional, Locke, Adam, additional, Marchini, Jonathan, additional, Marcketta, Anthony, additional, Mbatchou, Joelle, additional, Moscati, Arden, additional, Paulding, Charles, additional, Sidore, Carlo, additional, Stahl, Eli, additional, Watanabe, Kyoko, additional, Ye, Bin, additional, Zhang, Blair, additional, Ziyatdinov, Andrey, additional, Ayer, Ariane, additional, Guvenek, Aysegul, additional, Hindy, George, additional, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Praveen, Kavita, additional, Kapoor, Manav, additional, Haas, Mary, additional, Riaz, Moeen, additional, Verweij, Niek, additional, Sosina, Olukayode, additional, Akbari, Parsa, additional, Nakka, Priyanka, additional, Gelfman, Sahar, additional, Gokhale, Sujit, additional, De, Tanima, additional, Rajagopal, Veera, additional, Tzoneva, Gannie, additional, Rodriguez‐Flores, Juan, additional, Chim, Shek Man, additional, Donato, Valerio, additional, Fernandez, Daniel, additional, Gatta, Giusy Della, additional, Di Gioia, Alessandro, additional, Howell, Kristen, additional, Khrimian, Lori, additional, Kim, Minhee, additional, Martinez, Hector, additional, Miloscio, Lawrence, additional, Nunez, Sheilyn, additional, Pavlopoulos, Elias, additional, Persaud, Trikaldarshi, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, and Rana, Nadia, additional

Published
2023
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20. GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology

Author

Agencia Estatal de Investigación (España), European Commission, Junta de Andalucía, Universidad de Sevilla, Fundación Ramón Areces, Marongiu, Michele, Pérez-Mejías, Gonzalo, Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Díaz-Quintana, Antonio, Mulas, Antonella, Busonero, Fabio, Maschio, Andrea, Walter, Klaudia, Tardaguila, Manuel, Akbari, Parsa, Soranzo, Nicole, Fiorillo, Edoardo, Gorospe, Myriam, Schlessinger, David, Díaz-Moreno, Irene, Cucca, Francesco, Zoledziewska, Magdalena, Agencia Estatal de Investigación (España), European Commission, Junta de Andalucía, Universidad de Sevilla, Fundación Ramón Areces, Marongiu, Michele, Pérez-Mejías, Gonzalo, Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Díaz-Quintana, Antonio, Mulas, Antonella, Busonero, Fabio, Maschio, Andrea, Walter, Klaudia, Tardaguila, Manuel, Akbari, Parsa, Soranzo, Nicole, Fiorillo, Edoardo, Gorospe, Myriam, Schlessinger, David, Díaz-Moreno, Irene, Cucca, Francesco, and Zoledziewska, Magdalena

Abstract

Few genome-wide association studies (GWAS) analyzing genetic regulation of morphological traits of white blood cells have been reported. We carried out a GWAS of 12 morphological traits in 869 individuals from the general population of Sardinia, Italy. These traits, included measures of cell volume, conductivity and light scatter in four white-cell populations (eosinophils, lymphocytes, monocytes, neutrophils). This analysis yielded seven statistically significant signals, four of which were novel (four novel, PRG2, P2RX3, two of CDK6). Five signals were replicated in the independent INTERVAL cohort of 11 822 individuals. The most interesting signal with large effect size on eosinophil scatter (P-value = 8.33 x 10-32, beta = -1.651, se = 0.1351) falls within the innate immunity cluster on chromosome 11, and is located in the PRG2 gene. Computational analyses revealed that a rare, Sardinian-specific PRG2:p.Ser148Pro mutation modifies PRG2 amino acid contacts and protein dynamics in a manner that could possibly explain the changes observed in eosinophil morphology. Our discoveries shed light on genetics of morphological traits. For the first time, we describe such large effect size on eosinophils morphology that is relatively frequent in Sardinian population.

Published
2023

23. Innovations in cardiovascular imaging

Author

Majid Maleki, Azin Alizadehasl, Niloufar Akbari Parsa, and Rasoul Azarfarin

Subjects
medicine.medical_specialty, business.industry, MEDLINE, Cornerstone, 030204 cardiovascular system & hematology, 03 medical and health sciences, Cardiologists, 0302 clinical medicine, Cardiovascular Diseases, Humans, Medicine, 030212 general & internal medicine, Medical diagnosis, Cardiology and Cardiovascular Medicine, business, Intensive care medicine, Preventive healthcare
Abstract

Cardiovascular diseases are culpable for the majority of mortalities the world over, hence the significance of advances in preventive medicine and imaging. Cardiovascular imaging constitutes the cornerstone of not only early but also precise diagnoses. Indeed, advanced imaging enables cardiologists to make efficacious management plans for various heart conditions. The present article discusses essential innovations in cardiovascular imaging.

Published
2022

24. Cardio-Oncology in Iran: Cardio-toxicity Registry

Author

Alizadehasl, Azin, primary, Akbari Parsa, Niloufar, additional, Noohi, Feridoun, additional, Golpira, Reza, additional, Abdi, Amir, additional, Emami, Amir Hossein, additional, Moosavi, Asadollah, additional, and Janbabaei, Ghasem, additional

Published
2022
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26. Pericardial masses

Author

Hamidreza Pouraliakbar, Saifollah Abdi, Azin Alizadehasl, and Niloufar Akbari Parsa

Published
2023

28. Contributors

Author

Amir Abdi, Saifollah Abdi, Azin Alizadehasl, Rasoul Azarfarin, Ana Barac, Mohamad Bashir, Charles Benton, Mohammad Biglari, Muath Bishawi, L. Maximillian Buja, Daniela Cardinale, Marcus Carlsson, Vincenzo Caruso, Edward P. Chen, Carlo Maria Cipolla, Mahdi Daliri, John A. Elefteriades, Ata Firouzi, Alireza Alizadeh Ghavidel, Neha Gupta, Mahshid Hesami, Saeid Hosseini, Ehsan Khalilipur, Shirin Habibi Khorasani, Hadi Malek, Majid Maleki, Amirhossein Mirhosseini, Idhrees Mohammed, Seyyed Asadollah Mousavi, Kambiz Mozaffari, Afsheen Nasir, Feridoun Noohi, Joaquin Alfonso Palanca, Sahar Parkhideh, Niloufar Akbari Parsa, Hamidreza Pouraliakbar, Kiara Rezaei-Kalantari, Shahrad Shadman, Sheikh Mohammed Shariful Islam, Sidhant Singh, Avisa Tabib, Sven Z.C.P. Tan, Nahid Yaghoobi, and Mohammad A. Zafar

Published
2023

29. Cardio-Oncology in Iran

Author

Azin Alizadehasl, Feridoun Noohi, Majid Maleki, Mohammad Mehdi Peyghambari, Niloufar Akbari Parsa, Amir Hossein Emami, Asadollah Moosavi, Mehrdad Hagh Azali, Hamidreza Pouraliakbar, and Payam Azadeh

Subjects
Oncology, Cardiology and Cardiovascular Medicine, International Perspectives
Abstract

Central Illustration

Published
2021

31. GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology

Author

Marongiu, Michele, primary, Pérez-Mejías, Gonzalo, additional, Orrù, Valeria, additional, Steri, Maristella, additional, Sidore, Carlo, additional, Díaz-Quintana, Antonio, additional, Mulas, Antonella, additional, Busonero, Fabio, additional, Maschio, Andrea, additional, Walter, Klaudia, additional, Tardaguila, Manuel, additional, Akbari, Parsa, additional, Soranzo, Nicole, additional, Fiorillo, Edoardo, additional, Gorospe, Myriam, additional, Schlessinger, David, additional, Díaz-Moreno, Irene, additional, Cucca, Francesco, additional, and Zoledziewska, Magdalena, additional

Published
2022
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33. Germline Mutations in CIDEB and Protection against Liver Disease

Author

Verweij, Niek, primary, Haas, Mary E., additional, Nielsen, Jonas B., additional, Sosina, Olukayode A., additional, Kim, Minhee, additional, Akbari, Parsa, additional, De, Tanima, additional, Hindy, George, additional, Bovijn, Jonas, additional, Persaud, Trikaldarshi, additional, Miloscio, Lawrence, additional, Germino, Mary, additional, Panagis, Lampros, additional, Watanabe, Kyoko, additional, Mbatchou, Joelle, additional, Jones, Marcus, additional, LeBlanc, Michelle, additional, Balasubramanian, Suganthi, additional, Lammert, Craig, additional, Enhörning, Sofia, additional, Melander, Olle, additional, Carey, David J., additional, Still, Christopher D., additional, Mirshahi, Tooraj, additional, Rader, Daniel J., additional, Parasoglou, Prodromos, additional, Walls, Johnathon R., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Economides, Aris, additional, Cantor, Michael N., additional, Zambrowicz, Brian, additional, Murphy, Andrew J., additional, Abecasis, Goncalo R., additional, Ferreira, Manuel A.R., additional, Smagris, Eriks, additional, Gusarova, Viktoria, additional, Sleeman, Mark, additional, Yancopoulos, George D., additional, Marchini, Jonathan, additional, Kang, Hyun M., additional, Karalis, Katia, additional, Shuldiner, Alan R., additional, Della Gatta, Giusy, additional, Locke, Adam E., additional, Baras, Aris, additional, and Lotta, Luca A., additional

Published
2022
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34. A case of Takayasu arteritis mimicking aortic coarctation

Author

Parisa Seilani, Niloufar Akbari Parsa, Mozhgan Parsaee, Hamidreza Pouraliakbar, and Zahra Khajali

Subjects
medicine.medical_specialty, Aorta, business.industry, Constitutional symptoms, Takayasu arteritis, Case Report, 030204 cardiovascular system & hematology, medicine.disease, Imaging modalities, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine.artery, cardiovascular system, medicine, Cardiology, cardiovascular diseases, 030212 general & internal medicine, Cardiology and Cardiovascular Medicine, business, Tetralogy of Fallot
Abstract

A 23-year-old woman with history of tetralogy of Fallot presented with new hypertension and constitutional symptoms first diagnosed as coartation of aorta based on primary imaging but that turned out to be Takayasu arteritis after more evaluation by laboratory data and complementary imaging modalities .

Published
2021

36. GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.

Author

Marongiu, Michele, Pérez-Mejías, Gonzalo, Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Díaz-Quintana, Antonio, Mulas, Antonella, Busonero, Fabio, Maschio, Andrea, Walter, Klaudia, Tardaguila, Manuel, Akbari, Parsa, Soranzo, Nicole, Fiorillo, Edoardo, Gorospe, Myriam, Schlessinger, David, Díaz-Moreno, Irene, Cucca, Francesco, and Zoledziewska, Magdalena

Published
2023
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37. The factors related to hospitalization period in patients with acute myocardial infarction treated after primary percutaneous coronary intervention

Author

Mirbolouk, Fardin, Salari, Arsalan, Gholipour, Mahboobeh, Nikfarjam, Salman, Pourbahador, Reza, Mohamadnia, Hamideh, and Akbari-Parsa, Niloufar

Subjects
Percutaneous Coronary Intervention, Myocardial Infarction, Original Article, Length of Stay
Abstract

BACKGROUND Decreasing the hospital length of stay (LOS) in ST-segment elevation myocardial infarction (STEMI) after primary percutaneous coronary intervention (PPCI) is an issue which is related to reducing hospital costs. This study was aimed to determine the average number of hospital LOS among patients with STEMI treated by PPCI and predictors of longer LOS. METHODS This cross-sectional study was performed on 561 patients with STEMI who referred to Heshmat Hospital, Rasht, north of Iran, within 2015-2018. As soon as STEMI was detected, patients were transferred to the catheterization laboratory (cath lab) in the shortest possible time and underwent PPCI. A questionnaire including characteristics of patients, procedures, and in-hospital adverse events was completed. Data were analyzed with SPSS software. RESULTS The mean age of patients was 59.36 ± 11.90 years. 74.2% (n = 416) of subjects were men and 25.8% (n = 145) were women. The hospital LOS of 3 to 6 days had the highest prevalence up to 47%. The results of the multiple logistic regression showed that risk of hospital LOS > 6 days in unsuccessful percutaneous coronary intervention (PCI) was 33.2 versus 66.8 in successful PCI (P = 0.001). Moreover, the risk of hospital LOS > 6 days in subjects who had post-procedure complication, problems at admission, and primary comorbidities was 9.13 (7.22-11.53)-fold, 4.09 (2.86-5.85)-fold, and 1.75 (1.35-2.27)-fold more than those who had not, respectively CONCLUSION By identifying controllable predictive factors associated with prolonged hospitalization after PPCI, the length of hospitalization can be decreased; also, the patient remission can be enhanced and hospital costs reduced.

Published
2020

38. A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

Author

Bell, Steven, Rigas, Andreas S., Magnusson, Magnus K., Ferkingstad, Egil, Allara, Elias, Bjornsdottir, Gyda, Ramond, Anna, Sørensen, Erik, Halldorsson, Gisli H., Paul, Dirk S., Burgdorf, Kristoffer S., Eggertsson, Hannes P., Howson, Joanna M. M., Thørner, Lise W., Kristmundsdottir, Snaedis, Astle, William J., Erikstrup, Christian, Sigurdsson, Jon K., Vuckovic, Dragana, Dinh, Khoa M., Tragante, Vinicius, Surendran, Praveen, Pedersen, Ole B., Vidarsson, Brynjar, Jiang, Tao, Paarup, Helene M., Onundarson, Pall T., Akbari, Parsa, Nielsen, Kaspar R., Lund, Sigrun H., Juliusson, Kristinn, Magnusson, Magnus I., Frigge, Michael L., Oddsson, Asmundur, Olafsson, Isleifur, Kaptoge, Stephen, Hjalgrim, Henrik, Runarsson, Gudmundur, Wood, Angela M., Jonsdottir, Ingileif, Hansen, Thomas F., Sigurdardottir, Olof, Stefansson, Hreinn, Rye, David, Peters, James E., Westergaard, David, Holm, Hilma, Soranzo, Nicole, Banasik, Karina, Thorleifsson, Gudmar, Ouwehand, Willem H., Thorsteinsdottir, Unnur, Roberts, David J., Sulem, Patrick, Butterworth, Adam S., Gudbjartsson, Daniel F., Danesh, John, Brunak, Søren, Di Angelantonio, Emanuele, Ullum, Henrik, Stefansson, Kari, Andersen, Steffen, Burgdorf, Kristoffer, Jemec, Gregor, Jennum, Poul, Johansson, Pär, Nielsen, Kasper R., Nyegaard, Mette, Petersen, Mikkel, Werge, Thomas, Stefánsson, Hreinn, Thorsteinsdóttir, Unnur, Bell, Steven [0000-0001-6774-3149], Magnusson, Magnus K. [0000-0001-8593-4934], Ferkingstad, Egil [0000-0001-8090-7988], Allara, Elias [0000-0002-1634-8330], Halldorsson, Gisli H. [0000-0001-7067-9862], Paul, Dirk S. [0000-0002-8230-0116], Eggertsson, Hannes P. [0000-0002-1674-9978], Howson, Joanna M. M. [0000-0001-7618-0050], Erikstrup, Christian [0000-0001-6551-6647], Tragante, Vinicius [0000-0002-8223-8957], Pedersen, Ole B. [0000-0003-2312-5976], Paarup, Helene M. [0000-0003-1281-1567], Akbari, Parsa [0000-0001-9210-4760], Lund, Sigrun H. [0000-0002-3806-2296], Frigge, Michael L. [0000-0003-2984-535X], Oddsson, Asmundur [0000-0002-4606-5163], Jonsdottir, Ingileif [0000-0001-8339-150X], Hansen, Thomas F. [0000-0001-6703-7762], Stefansson, Hreinn [0000-0002-9331-6666], Westergaard, David [0000-0003-0128-8432], Holm, Hilma [0000-0002-9517-6636], Soranzo, Nicole [0000-0003-1095-3852], Banasik, Karina [0000-0003-2489-2499], Ouwehand, Willem H. [0000-0002-7744-1790], Sulem, Patrick [0000-0001-7123-6123], Butterworth, Adam S. [0000-0002-6915-9015], Gudbjartsson, Daniel F. [0000-0002-5222-9857], Brunak, Søren [0000-0003-0316-5866], Stefansson, Kari [0000-0003-1676-864X], and Apollo - University of Cambridge Repository

Subjects
45, 631/208/457/649, 692/308/2056, 45/43, article
Abstract

Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N = 246,139), total iron binding capacity (N = 135,430), iron (N = 163,511) and transferrin saturation (N = 131,471). We found 62 independent sequence variants associating with iron homeostasis parameters at 56 loci, including 46 novel loci. Variants at DUOX2, F5, SLC11A2 and TMPRSS6 associate with iron deficiency anemia, while variants at TF, HFE, TFR2 and TMPRSS6 associate with iron overload. A HBS1L-MYB intergenic region variant associates both with increased risk of iron overload and reduced risk of iron deficiency anemia. The DUOX2 missense variant is present in 14% of the population, associates with all iron homeostasis biomarkers, and increases the risk of iron deficiency anemia by 29%. The associations implicate proteins contributing to the main physiological processes involved in iron homeostasis: iron sensing and storage, inflammation, absorption of iron from the gut, iron recycling, erythropoiesis and bleeding/menstruation.

Published
2021
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39. Higher body mass index raises immature platelet count: potential contribution to obesity-related thrombosis

Author

Goudswaard, Lucy J., primary, Corbin, Laura J., additional, Burley, Kate L., additional, Mumford, Andrew, additional, Akbari, Parsa, additional, Soranzo, Nicole, additional, Butterworth, Adam S., additional, Watkins, Nicholas A., additional, Pournaras, Dimitri J., additional, Harris, Jessica, additional, Timpson, Nicholas J., additional, and Hers, Ingeborg, additional

Published
2022
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40. TEE-guided Aortic Valve-in-Valve in a Patient with Infective Endocarditis after Covid-19 Infection

Author

Azin alizadehasl, Sayfollah Abdi, Ata Firouzi, Hamidreza Pouraliakbar, Parham Sadeghipour, Rasoul Azarfarin, and Niloufar Akbari Parsa

Subjects
humanities
Abstract

We present a rare case of an elderly man with degenerated bioprosthetic aortic valve complicated by infectious endocarditis 6 months after Covid-19 infection, who was treated successfully with valve-in valve after antibiotic therapy for the acute phase of infection, with excellent result and no complication early after the procedure and in follow-up visits.

Published
2021

43. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Author

Boer, Cindy G., primary, Hatzikotoulas, Konstantinos, additional, Southam, Lorraine, additional, Stefánsdóttir, Lilja, additional, Zhang, Yanfei, additional, Coutinho de Almeida, Rodrigo, additional, Wu, Tian T., additional, Zheng, Jie, additional, Hartley, April, additional, Teder-Laving, Maris, additional, Skogholt, Anne Heidi, additional, Terao, Chikashi, additional, Zengini, Eleni, additional, Alexiadis, George, additional, Barysenka, Andrei, additional, Bjornsdottir, Gyda, additional, Gabrielsen, Maiken E., additional, Gilly, Arthur, additional, Ingvarsson, Thorvaldur, additional, Johnsen, Marianne B., additional, Jonsson, Helgi, additional, Kloppenburg, Margreet, additional, Luetge, Almut, additional, Lund, Sigrun H., additional, Mägi, Reedik, additional, Mangino, Massimo, additional, Nelissen, Rob R.G.H.H., additional, Shivakumar, Manu, additional, Steinberg, Julia, additional, Takuwa, Hiroshi, additional, Thomas, Laurent F., additional, Tuerlings, Margo, additional, Babis, George C., additional, Cheung, Jason Pui Yin, additional, Kang, Jae Hee, additional, Kraft, Peter, additional, Lietman, Steven A., additional, Samartzis, Dino, additional, Slagboom, P. Eline, additional, Stefansson, Kari, additional, Thorsteinsdottir, Unnur, additional, Tobias, Jonathan H., additional, Uitterlinden, André G., additional, Winsvold, Bendik, additional, Zwart, John-Anker, additional, Davey Smith, George, additional, Sham, Pak Chung, additional, Thorleifsson, Gudmar, additional, Gaunt, Tom R., additional, Morris, Andrew P., additional, Valdes, Ana M., additional, Tsezou, Aspasia, additional, Cheah, Kathryn S.E., additional, Ikegawa, Shiro, additional, Hveem, Kristian, additional, Esko, Tõnu, additional, Wilkinson, J. Mark, additional, Meulenbelt, Ingrid, additional, Lee, Ming Ta Michael, additional, van Meurs, Joyce B.J., additional, Styrkársdóttir, Unnur, additional, Zeggini, Eleftheria, additional, Loughlin, John, additional, Arden, Nigel, additional, Birrell, Fraser, additional, Carr, Andrew, additional, Deloukas, Panos, additional, Doherty, Michael, additional, McCaskie, Andrew W., additional, Ollier, William E.R., additional, Rai, Ashok, additional, Ralston, Stuart H., additional, Spector, Tim D., additional, Wallis, Gillian A., additional, Martinsen, Amy E., additional, Willer, Cristen, additional, Fors, Egil Andreas, additional, Mundal, Ingunn, additional, Hagen, Knut, additional, Nilsen, Kristian Bernhard, additional, Lie, Marie Udnesseter, additional, Børte, Sigrid, additional, Brumpton, Ben, additional, Nielsen, Jonas Bille, additional, Fritsche, Lars G., additional, Zhou, Wei, additional, Heuch, Ingrid, additional, Storheim, Kjersti, additional, Tyrpenou, Evangelos, additional, Koukakis, Athanasios, additional, Chytas, Dimitrios, additional, Evangelopoulos, Dimitrios Stergios, additional, Efstathios, Chronopoulos, additional, Pneumaticos, Spiros, additional, Nikolaou, Vasileios S., additional, Malizos, Konstantinos, additional, Anastasopoulou, Lydia, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Deubler, Andrew, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Karalis, Katia, additional, Siminovitch, Katherine, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Boutkov, Boris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Li, Dadong, additional, Sharma, Deepika, additional, Banerjee, Ilanjana, additional, Bovijn, Jonas, additional, Locke, Adam, additional, Verweij, Niek, additional, Haas, Mary, additional, Hindy, George, additional, De, Tanima, additional, Akbari, Parsa, additional, Sosina, Olukayode, additional, Ferreira, Manuel A.R., additional, Jones, Marcus B., additional, Mighty, Jason, additional, LeBlanc, Michelle G., additional, and Mitnaul, Lyndon J., additional

Published
2021
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45. Higher body mass index raises immature platelet count: evidence from Mendelian randomization analyses

Author

Goudswaard, Lucy J., primary, Corbin, Laura J., additional, Burley, Kate L., additional, Mumford, Andrew, additional, Akbari, Parsa, additional, Soranzo, Nicole, additional, Butterworth, Adam S., additional, Watkins, Nicholas A., additional, Pournaras, Dimitri J., additional, Harris, Jessica, additional, Timpson, Nicholas J., additional, and Hers, Ingeborg, additional

Published
2021
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46. The Polygenic and Monogenic Basis of Blood Traits and Diseases

Author

Vuckovic, Dragana, Bao, Erik L, Akbari, Parsa, Lareau, Caleb A, Mousas, Abdou, Jiang, Tao, Chen, Ming-Huei, Raffield, Laura M, Tardaguila, Manuel, Huffman, Jennifer E, Ritchie, Scott C, Megy, Karyn, Ponstingl, Hannes, Penkett, Christopher J, Albers, Patrick K, Wigdor, Emilie M, Sakaue, Saori, Moscati, Arden, Manansala, Regina, Lo, Ken Sin, Qian, Huijun, Akiyama, Masato, Bartz, Traci M, Ben-Shlomo, Yoav, Beswick, Andrew, Bork-Jensen, Jette, Bottinger, Erwin P, Brody, Jennifer A, Van Rooij, Frank JA, Chitrala, Kumaraswamy N, Wilson, Peter WF, Choquet, Hélène, Danesh, John, Di Angelantonio, Emanuele, Dimou, Niki, Ding, Jingzhong, Elliott, Paul, Esko, Tõnu, Evans, Michele K, Felix, Stephan B, Floyd, James S, Broer, Linda, Grarup, Niels, Guo, Michael H, Guo, Qi, Greinacher, Andreas, Haessler, Jeff, Hansen, Torben, Howson, Joanna MM, Huang, Wei, Jorgenson, Eric, Kacprowski, Tim, Kähönen, Mika, Kamatani, Yoichiro, Kanai, Masahiro, Karthikeyan, Savita, Koskeridis, Fotios, Lange, Leslie A, Lehtimäki, Terho, Linneberg, Allan, Liu, Yongmei, Lyytikäinen, Leo-Pekka, Manichaikul, Ani, Matsuda, Koichi, Mohlke, Karen L, Mononen, Nina, Murakami, Yoshinori, Nadkarni, Girish N, Nikus, Kjell, Pankratz, Nathan, Pedersen, Oluf, Preuss, Michael, Psaty, Bruce M, Raitakari, Olli T, Rich, Stephen S, Rodriguez, Benjamin AT, Rosen, Jonathan D, Rotter, Jerome I, Schubert, Petra, Spracklen, Cassandra N, Surendran, Praveen, Tang, Hua, Tardif, Jean-Claude, Ghanbari, Mohsen, Völker, Uwe, Völzke, Henry, Watkins, Nicholas A, Weiss, Stefan, VA Million Veteran Program, Cai, Na, Kundu, Kousik, Watt, Stephen B, Walter, Klaudia, Zonderman, Alan B, Cho, Kelly, Li, Yun, Loos, Ruth JF, Knight, Julian C, Georges, Michel, Stegle, Oliver, Evangelou, Evangelos, Okada, Yukinori, Roberts, David J, Inouye, Michael, Johnson, Andrew D, Auer, Paul L, Astle, William J, Reiner, Alexander P, Butterworth, Adam S, Ouwehand, Willem H, Lettre, Guillaume, Sankaran, Vijay G, Soranzo, Nicole, Ritchie, Scott [0000-0002-8454-9548], Megy, Karyn [0000-0002-2826-3879], Danesh, John [0000-0003-1158-6791], Di Angelantonio, Emanuele [0000-0001-8776-6719], Kundu, Kousik [0000-0002-1019-8351], Inouye, Michael [0000-0001-9413-6520], Astle, William [0000-0001-8866-6672], Butterworth, Adam [0000-0002-6915-9015], Ouwehand, Willem [0000-0002-7744-1790], Soranzo, Nicole [0000-0003-1095-3852], and Apollo - University of Cambridge Repository

Subjects
Male, UK Biobank, Multifactorial Inheritance, polygenic risk, rare disease, Polymorphism, Single Nucleotide, hematopoiesis, splicing, Phenotype, fine-mapping, blood, chromatin, Humans, genetics, Female, Gene Regulatory Networks, Genetic Predisposition to Disease, omnigenic, Genome-Wide Association Study
Abstract

Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation.

Published
2020
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47. A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

Author

Bell, Steven, Allara, Elias, Ramond, Anna, Paul, Dirk, Howson, Joanna, Astle, William, Surendran, Praveen, Jiang, Tao, Akbari, Parsa, Kaptoge, Stephen, Wood, Angela, Peters, James, Soranzo, Nicole, Ouwehand, Willem, Butterworth, Adam, Danesh, John, Di Angelantonio, Emanuele, Bell, Steven [0000-0001-6774-3149], Allara, Elias [0000-0002-1634-8330], Paul, Dirk [0000-0002-8230-0116], Astle, William [0000-0001-8866-6672], Kaptoge, Stephen [0000-0002-1155-4872], Wood, Angela [0000-0002-7937-304X], Soranzo, Nicole [0000-0003-1095-3852], Ouwehand, Willem [0000-0002-7744-1790], Butterworth, Adam [0000-0002-6915-9015], Danesh, John [0000-0003-1158-6791], Di Angelantonio, Emanuele [0000-0001-8776-6719], and Apollo - University of Cambridge Repository

Subjects
Iron Overload, Anemia, Iron-Deficiency, Genotype, Denmark, Iron, Iceland, Transferrin, Genetic Variation, Risk Assessment, United Kingdom, Phenotype, Genetic Loci, Risk Factors, Ferritins, Homeostasis, Humans, health care economics and organizations, Biomarkers, Genome-Wide Association Study
Abstract

Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N=246,139), total iron binding capacity (N=135,430), iron (N=163,511) and transferrin saturation (N=131,471). We found 62 independent sequence variants associating with iron homeostasis parameters at 56 loci, including 46 novel loci. Variants at DUOX2, F5, SLC11A2 and TMPRSS6 associate with iron deficiency anemia, while variants at TF, HFE, TFR2 and TMPRSS6 associate with iron overload. A HBS1L-MYB intergenic region variant associates both with increased risk of iron overload and reduced risk of iron deficiency anemia. The DUOX2 missense variant is present in 14% of the population, associates with all iron homeostasis biomarkers, and increases the risk of iron deficiency anemia by 29%. The associations implicate proteins contributing to the main physiological processes involved in iron homeostasis: iron sensing and storage, inflammation, absorption of iron from the gut, iron recycling, erythropoiesis and bleeding/menstruation.

Published
2020
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48. The Polygenic and Monogenic Basis of Blood Traits and Diseases

Author

Vuckovic, Dragana, primary, Bao, Erik L., additional, Akbari, Parsa, additional, Lareau, Caleb A., additional, Mousas, Abdou, additional, Jiang, Tao, additional, Chen, Ming-Huei, additional, Raffield, Laura M., additional, Tardaguila, Manuel, additional, Huffman, Jennifer E., additional, Ritchie, Scott C., additional, Megy, Karyn, additional, Ponstingl, Hannes, additional, Penkett, Christopher J., additional, Albers, Patrick K., additional, Wigdor, Emilie M., additional, Sakaue, Saori, additional, Moscati, Arden, additional, Manansala, Regina, additional, Lo, Ken Sin, additional, Qian, Huijun, additional, Akiyama, Masato, additional, Bartz, Traci M., additional, Ben-Shlomo, Yoav, additional, Beswick, Andrew, additional, Bork-Jensen, Jette, additional, Bottinger, Erwin P., additional, Brody, Jennifer A., additional, van Rooij, Frank J.A., additional, Chitrala, Kumaraswamy N., additional, Wilson, Peter W.F., additional, Choquet, Hélène, additional, Danesh, John, additional, Di Angelantonio, Emanuele, additional, Dimou, Niki, additional, Ding, Jingzhong, additional, Elliott, Paul, additional, Esko, Tõnu, additional, Evans, Michele K., additional, Felix, Stephan B., additional, Floyd, James S., additional, Broer, Linda, additional, Grarup, Niels, additional, Guo, Michael H., additional, Guo, Qi, additional, Greinacher, Andreas, additional, Haessler, Jeff, additional, Hansen, Torben, additional, Howson, Joanna M.M., additional, Huang, Wei, additional, Jorgenson, Eric, additional, Kacprowski, Tim, additional, Kähönen, Mika, additional, Kamatani, Yoichiro, additional, Kanai, Masahiro, additional, Karthikeyan, Savita, additional, Koskeridis, Fotios, additional, Lange, Leslie A., additional, Lehtimäki, Terho, additional, Linneberg, Allan, additional, Liu, Yongmei, additional, Lyytikäinen, Leo-Pekka, additional, Manichaikul, Ani, additional, Matsuda, Koichi, additional, Mohlke, Karen L., additional, Mononen, Nina, additional, Murakami, Yoshinori, additional, Nadkarni, Girish N., additional, Nikus, Kjell, additional, Pankratz, Nathan, additional, Pedersen, Oluf, additional, Preuss, Michael, additional, Psaty, Bruce M., additional, Raitakari, Olli T., additional, Rich, Stephen S., additional, Rodriguez, Benjamin A.T., additional, Rosen, Jonathan D., additional, Rotter, Jerome I., additional, Schubert, Petra, additional, Spracklen, Cassandra N., additional, Surendran, Praveen, additional, Tang, Hua, additional, Tardif, Jean-Claude, additional, Ghanbari, Mohsen, additional, Völker, Uwe, additional, Völzke, Henry, additional, Watkins, Nicholas A., additional, Weiss, Stefan, additional, Cai, Na, additional, Kundu, Kousik, additional, Watt, Stephen B., additional, Walter, Klaudia, additional, Zonderman, Alan B., additional, Cho, Kelly, additional, Li, Yun, additional, Loos, Ruth J.F., additional, Knight, Julian C., additional, Georges, Michel, additional, Stegle, Oliver, additional, Evangelou, Evangelos, additional, Okada, Yukinori, additional, Roberts, David J., additional, Inouye, Michael, additional, Johnson, Andrew D., additional, Auer, Paul L., additional, Astle, William J., additional, Reiner, Alexander P., additional, Butterworth, Adam S., additional, Ouwehand, Willem H., additional, Lettre, Guillaume, additional, Sankaran, Vijay G., additional, and Soranzo, Nicole, additional

Published
2020
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49. Learning polygenic scores for human blood cell traits

Author

Xu, Yu, primary, Vuckovic, Dragana, additional, Ritchie, Scott C, additional, Akbari, Parsa, additional, Jiang, Tao, additional, Grealey, Jason, additional, Butterworth, Adam S., additional, Ouwehand, Willem H, additional, Roberts, David J, additional, Di Angelantonio, Emanuele, additional, Danesh, John, additional, Soranzo, Nicole, additional, and Inouye, Michael, additional

Published
2020
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50. Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference

Author

Akbari, Parsa, primary, Vuckovic, Dragana, additional, Jiang, Tao, additional, Kundu, Kousik, additional, Kreuzhuber, Roman, additional, Bao, Erik L., additional, Mayer, Louisa, additional, Collins, Janine H., additional, Downes, Kate, additional, Georges, Michel, additional, Grassi, Luigi, additional, Guerrero, Jose A., additional, Kaptoge, Stephen, additional, Knight, Julian C., additional, Meacham, Stuart, additional, Sambrook, Jennifer, additional, Seyres, Denis, additional, Stegle, Oliver, additional, Verboon, Jeffrey M., additional, Walter, Klaudia, additional, Watkins, Nicholas A., additional, Danesh, John, additional, Roberts, David J., additional, Di Angelantonio, Emanuele, additional, Sankaran, Vijay G., additional, Frontini, Mattia, additional, Burgess, Stephen, additional, Kuijpers, Taco, additional, Peters, James E., additional, Butterworth, Adam S., additional, Ouwehand, Willem H., additional, Soranzo, Nicole, additional, and Astle, William J., additional

Published
2020
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