Article
Multidisciplinary Sciences
Yuanhao Yang, Hannah Musco, Steve Simpson-Yap, Zhihong Zhu, Ying Wang, Xin Lin, Jiawei Zhang, Bruce Taylor, Jacob Gratten, Yuan Zhou
Summary: The study found a strong genetic correlation between MS and UC, while the genetic relationship between MS and CD was weaker. Using Mendelian randomization, there was suggestive evidence for a causal effect of MS on UC and IBD, but not a clear causal effect of IBD or UC on MS. The study also observed consistent patterns of tissue-specific heritability enrichment for MS and IBDs, as well as cell-type-specific enrichment in specific cell types.
NATURE COMMUNICATIONS
(2021)
Article
Genetics & Heredity
Zhanju Liu, Ruize Liu, Han Gao, Seulgi Jung, Xiang Gao, Ruicong Sun, Xiaoming Liu, Yongjae Kim, Ho-Su Lee, Yosuke Kawai, Masao Nagasaki, Junji Umeno, Katsushi Tokunaga, Yoshitaka Kinouchi, Atsushi Masamune, Wenzhao Shi, Chengguo Shen, Zhenglin Guo, Kai Yuan, Shu Zhu, Dalin Li, Jianjun Liu, Tian Ge, Judy Cho, Mark J. Daly, Dermot P. B. McGovern, Byong Duk Ye, Kyuyoung Song, Yoichi Kakuta, Mingsong Li, Hailiang Huang, Maria Abreu, Jean-Paul Achkar, Vibeke Andersen, Charles Bernstein, Steven R. Brant, Luis Bujanda, Siew Chien Ng, Judy Cho, Mark J. Daly, Lee A. Denson, Richard H. Duerr, Lynnette R. Ferguson, Denis Franchimont, Andre Franke, Richard Gearry, Hakon Hakonarson, Jonas Halfvarson, Caren Heller, Hailiang Huang, Antonio Julia, Judith Kelsen, Hamed Khalili, Subramaniam Kugathasan, Juozas Kupcinskas, Anna Latiano, Edouard Louis, Reza Malekzadeh, Jacob L. McCauley, Dermot P. B. McGovern, Christopher Moran, David Okou, Tim Orchard, Aarno Palotie, Miles Parkes, Joel Pekow, Uros Potocnik, Graham Radford-Smith, John D. Rioux, Gerhard Rogler, Bruce Sands, Mark Silverberg, Harry Sokol, Severine Vermeire, Rinse K. Weersma, Ramnik J. Xavier, Naizhong Hu, Qian Cao, Yufang Wang, Yinglei Miao, Hongjie Zhang, Xiaoping Lv, Xiang Gao, Hu Zhang, Jingling Su, Baisui Feng, Ye Zhao, Liangru Zhu, Yan Chen, Lanxiang Zhu, Chunxiao Chen, Yali Wang, Yingde Wang, Zhi Pang, Yingxuan Chen, Xiaolan Zhang, Hui Li, Qin Yu, Mei Ye, Sumin Zhang, Wen Tang, Mei Wang, Xiaocang Cao, Ruixin Zhu, Guangxi Zhou, Zhaolian Bian, Xiaofeng Guo, Xiaoli Wu, Jinchun Liu, Wei Xu, Yuqin Li, Qin Guo, Zhiguo Guo, Mingsong Li, Zhanju Liu
Summary: This study provides the largest investigation of inflammatory bowel diseases (IBDs) in individuals of East Asian ancestries, identifying 80 IBD loci, including 81 new loci. The study also discovers new IBD genes, such as ADAP1 and GIT2, and improves the accuracy of predicting IBD risk by incorporating data from both East Asian and European ancestries.
Article
Multidisciplinary Sciences
Raneem Saadi Alharbi, Noor Ahmad Shaik, Hadiah Almahdi, Hanan Abdelhalim ElSokary, Bassam Adnan Jamalalail, Mahmoud H. Mosli, Hadeel A. Alsufyani, Jumana Yousuf Al-Aama, Ramu Elango, Omar Ibrahim Saadah, Babajan Banaganapalli
Summary: This study aimed to evaluate the relevance of NOD2 and IL23R gene polymorphisms, selected from Caucasian Genome-wide association study findings, as risk markers for IBD pathology in Saudi patients. The study found limited or no use of Caucasian genetic risk markers in estimating the risk of IBD development in Saudi patients.
JOURNAL OF KING SAUD UNIVERSITY SCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Sharon Tran, Juliani Juliani, Walter Douglas Fairlie, Erinna Faith Lee
Summary: Landmark GWAS studies have found a correlation between mutations in autophagy genes and inflammatory bowel disease (IBD), which is characterized by prolonged inflammation of the gastrointestinal tract and can greatly affect a person's quality of life. Autophagy is a critical cellular process that helps maintain intestinal health and plays a role in innate immune defense. Further research into the mechanisms of autophagy and its role in preventing intestinal inflammation may have implications for the management of IBD.
BIOCHEMICAL SOCIETY TRANSACTIONS
(2023)
Article
Gastroenterology & Hepatology
M. D. Voskuil, L. M. Spekhorst, K. W. J. van der Sloot, B. H. Jansen, G. Dijkstra, C. J. van der Woude, F. Hoentjen, M. J. Pierik, A. E. van der Meulen, N. K. H. de Boer, M. Lowenberg, B. Oldenburg, E. A. M. Festen, R. K. Weersma
Summary: IBD phenotypes show significant heterogeneity between patients, and genetic risk scores [GRS] can help unravel the genetic contributions to these phenotypes. The study findings indicate that different CD and UC GRS are associated with specific IBD phenotypes, driven mainly by genetic variation.
JOURNAL OF CROHNS & COLITIS
(2021)
Review
Genetics & Heredity
Sara Jarmakiewicz-Czaja, Magdalena Zielinska, Aneta Sokal, Rafal Filip
Summary: This review examines the genetic factors associated with inflammatory bowel disease (IBD), including disease predisposition and pharmacogenetics.
Article
Immunology
Xuanyan Cai, Huiyan Zha, Zhaoxu Yang, Yiwen Du, Xiaoyang Dai, Bo Yang, Jiajia Wang, Qiaojun He, Qinjie Weng
Summary: In this study, the relationship between TGF-beta 1 polymorphisms and susceptibility to chronic liver disease (CLD) was systematically analyzed using 35 eligible studies. The findings indicate that certain TGF-beta 1 gene variations are associated with an increased risk of CLD. Additionally, TGF-beta 1 gene expression is significantly elevated in CLD patients, and a TGF-beta 1 codon 263 variant may affect the secretion of TGF-beta 1 by altering its dimerization.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Gastroenterology & Hepatology
Kristiina Rajamaki, Aurora Taira, Riku Katainen, Niko Valimaki, Anna Kuosmanen, Roosa-Maria Plaketti, Toni T. Seppala, Maarit Ahtiainen, Erkki-Ville Wirta, Emilia Vartiainen, Paivi Sulo, Janne Ravantti, Suvi Lehtipuro, Kirsi J. Granberg, Matti Nykter, Tomas Tanskanen, Ari Ristimaki, Selja Koskensalo, Laura Renkonen-Sinisalo, Anna Lepisto, Jan Bohm, Jussi Taipale, Jukka-Pekka Mecklin, Mervi Aavikko, Kimmo Palin, Lauri A. Aaltonen
Summary: By comprehensively characterizing IBD-associated tumorigenesis using multiple high-throughput approaches, distinct mechanisms of WNT pathway dysregulation were identified in IBD-CRC, which skew the tumors towards a mesenchymal subtype. Additionally, epigenetic modifications and noncoding mutations in specific genes were found in IBD-CRC, highlighting further differences compared to sCRC.
Article
Genetics & Heredity
Hari K. Somineni, Sini Nagpal, Suresh Venkateswaran, David J. Cutler, David T. Okou, Talin Haritunians, Claire L. Simpson, Ferdouse Begum, Lisa W. Datta, Antonio J. Quiros, Jenifer Seminerio, Emebet Mengesha, Jonathan S. Alexander, Robert N. Baldassano, Sharon Dudley-Brown, Raymond K. Cross, Themistocles Dassopoulos, Lee A. Denson, Tanvi A. Dhere, Heba Iskandar, Gerald W. Dryden, Jason K. Hou, Sunny Z. Hussain, Jeffrey S. Hyams, Kim L. Isaacs, Howard Kader, Michael D. Kappelman, Jeffry Katz, Richard Kellermayer, John F. Kuemmerle, Mark Lazarev, Ellen Li, Peter Mannon, Dedrick E. Moulton, Rodney D. Newberry, Ashish S. Patel, Joel Pekow, Shehzad A. Saeed, John F. Valentine, Ming-Hsi Wang, Jacob L. McCauley, Maria T. Abreu, Traci Jester, Zarela Molle-Rios, Sirish Palle, Ellen J. Scherl, John Kwon, John D. Rioux, Richard H. Duerr, Mark S. Silverberg, Michael E. Zwick, Christine Stevens, Mark J. Daly, Judy H. Cho, Greg Gibson, Dermot P. B. McGovern, Steven R. Brant, Subra Kugathasan
Summary: This study explored the genetic risk differences for inflammatory bowel disease among individuals with African American and European ancestries, revealing variations in gene effect sizes and allele frequencies. While there is a significant overlap in common variant risk for inflammatory bowel disease susceptibility between individuals of African and European ancestries, there are subtle differences in polygenic risk scores.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Multidisciplinary Sciences
Ruize Liu, Dalin Li, Talin Haritunians, Yunfeng Ruan, Mark J. Daly, Hailiang Huang, Dermot P. B. McGovern
Summary: This study presents a novel molecular-based prediction model that combines genetics, serum biomarkers, and smoking information to assist in the diagnosis of Crohn's disease and ulcerative colitis. The joint model explains approximately 46% of phenotypic variation, with genetics making unique contributions to distinguishing disease subtypes and smoking status potentially not being an effective biomarker.
Article
Gastroenterology & Hepatology
Isidora Simovic, Ida Hilmi, Ruey Terng Ng, Kee Seang Chew, Shin Yee Wong, Way Seah Lee, Stephen Riordan, Natalia Castano-Rodriguez
Summary: ATG16L1 rs2241880 is significantly associated with susceptibility to Crohn's disease (CD) and influences clinical outcomes, especially in Caucasian populations.
UNITED EUROPEAN GASTROENTEROLOGY JOURNAL
(2023)
Article
Medicine, Research & Experimental
Zhihan Wang, Kai Guo, Pan Gao, Qinqin Pu, Ping Lin, Shugang Qin, Na Xie, Junguk Hur, Changlong Li, Canhua Huang, Min Wu
Summary: The study identified potential biomarkers for inflammatory bowel disease through gene-microbiota interactions and validated anti-inflammatory properties of a drug candidate. By predicting microbiome function and repurposing drugs, it opened up new possibilities for treating IBD.
Article
Multidisciplinary Sciences
Yiming Wu, Kyle Gettler, Meltem Ece Kars, Mamta Giri, Dalin Li, Cigdem Sevim Bayrak, Peng Zhang, Aayushee Jain, Patrick Maffucci, Ksenija Sabic, Tielman Van Vleck, Girish Nadkarni, Lee A. Denson, Harry Ostrer, Adam P. Levine, Elena R. Schiff, Anthony W. Segal, Subra Kugathasan, Peter D. Stenson, David N. Cooper, L. Philip Schumm, Scott Snapper, Mark J. Daly, Talin Haritunians, Richard H. Duerr, Mark S. Silverberg, John D. Rioux, Steven R. Brant, Dermot P. B. McGovern, Judy H. Cho, Yuval Itan
Summary: In this study, novel IBD-associated variants and genes are identified by sequencing the genomes of 4453 Ashkenazi Jewish IBD cases and controls. The physiological relevance of these genes to IBD is demonstrated through biological pathway analyses and RNA sequencing. The study also reveals the genetic overlap between adult IBD in Ashkenazi Jews and early-onset IBD, as well as the pleiotropic effects of IBD genes on other immune responses. Lastly, it is shown that polygenic risk score analyses based on high impact variants have high predictive power for IBD susceptibility.
NATURE COMMUNICATIONS
(2023)
Review
Biochemistry & Molecular Biology
Wenwen Wei, Xin Wang, Yuanzhong Zhou, Xuejun Shang, Hongsong Yu
Summary: Pregnancy-induced hypertension (PIH) is a severe pregnancy complication that can lead to maternal mortality. Various genetic factors have been shown to play an important role in the occurrence and development of PIH. This review summarizes the genetic risk factors involved in the renin-angiotensin system, endothelin system, inflammatory factors, oxidative stress, and other functional networks that may contribute to the pathogenesis of PIH.
Review
Pharmacology & Pharmacy
Rocio Rivera Rodriguez, Jeremy James Johnson
Summary: Inflammatory Bowel Disease (IBD) is a chronic autoimmune disease characterized by intestinal inflammation. The incidence of IBD is rapidly increasing in newly developed countries, making it a global concern. Two major types of IBD, ulcerative colitis (UC) and Crohn's disease (CD), have different manifestations and locations of inflammation in the digestive tract. Current FDA-approved treatments for IBD are only effective for 50% of patients and come with serious side effects, highlighting the need for safer and more effective therapies. Plant-based diets, such as the Mediterranean diet rich in anti-inflammatory phytochemicals, have shown benefits in preventing and improving symptoms of IBD. Terpenes, a class of phytochemicals abundant in Mediterranean herbs and citrus fruits, have been studied for their potential to modulate inflammatory signaling in IBD. However, there is still conflicting and inconclusive evidence regarding their effectiveness. This review evaluates preclinical studies on terpenes and their impact on basic inflammatory signaling in IBD.
PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Health Care Sciences & Services
Carlos Taxonera, Fernando de Andres-Nogales, Santiago Garcia-Lopez, Amelia Sanchez-Guerrero, Belen Menchen, Carmen Peral, Ana Cabez, Susana Gomez, Alejandra Lopez-Ibanez de Aldecoa, Miguel Angel Casado, Luis Menchen
Summary: The study indicates that from the perspective of the Spanish NHS, tofacitinib may be a more cost-effective and efficient treatment option compared to vedolizumab.
EXPERT REVIEW OF PHARMACOECONOMICS & OUTCOMES RESEARCH
(2022)
Article
Rheumatology
Elio G. Carmona, Jose A. Garcia-Gimenez, Raquel Lopez-Mejias, Chiea Chuen Khor, Jong-Keuk Lee, Ekim Taskiran, Seza Ozen, Alojzija Hocevar, Lili Liu, Mario Gorenjak, Uros Potocnik, Krzysztof Kiryluk, Norberto Ortego-Centeno, Maria C. Cid, Jose Hernandez-Rodriguez, Santos Castaneda, Miguel A. Gonzalez-Gay, David Burgner, Javier Martin, Ana Marquez
Summary: This study aimed to increase knowledge on the genetic contribution to Kawasaki disease (KD) and IgA vasculitis (IgAV) by performing a comprehensive large-scale analysis on the genetic overlap between them. A new risk locus with pleiotropic effects on the two childhood vasculitides analyzed was identified, representing the strongest non-HLA signal described for IgAV to date.
Letter
Rheumatology
Carlos Taxonera, David Olivares, Cristina Alba
RHEUMATOLOGY INTERNATIONAL
(2022)
Editorial Material
Gastroenterology & Hepatology
Carlos Taxonera
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2022)
Article
Gastroenterology & Hepatology
A. Hernandez-Camba, L. Arranz, I Vera, D. Carpio, M. Calafat, A. J. Lucendo, C. Taxonera, S. Marin, M. J. Garcia, G. Suris Marin, E. Sanchez Rodriguez, A. Y. Carbajo, M. L. De Castro, M. Iborra, A. Martin-Cardona, I Rodriguez-Lago, D. Busquets, F. Bertoletti, M. Sierra Ausin, C. Tardillo, J. Huguet Malaves, L. Bujanda, A. Castano, E. Domenech, L. Ramos
Summary: This study evaluated the use of MMF in IBD and found that it has some effectiveness and good safety in treating IBD patients.
DIGESTIVE AND LIVER DISEASE
(2022)
Article
Gastroenterology & Hepatology
Maria Chaparro, Iria Baston-Rey, Estela Fernandez-Salgado, Javier Gonzalez Garcia, Laura Ramos, Maria Teresa Diz-Lois Palomares, Federico Arguelles-Arias, Eva Iglesias Flores, Mercedes Cabello, Saioa Rubio Iturria, Andrea Nunez Ortiz, Mara Charro, Daniel Ginard, Carmen Duenas Sadornil, Olga Merino Ochoa, David Busquets, Eduardo Iyo, Ana Gutierrez Casbas, Patricia Ramirez de la Piscina, Marta Maia Bosca-Watts, Maite Arroyo, Maria Jose Garcia, Esther Hinojosa, Jordi Gordillo, Pilar Martinez Montiel, Benito Velayos Jimenez, Cristina Quilez Ivorra, Juan Maria Vazquez Moron, Jose Maria Huguet, Yago Gonzalez-Lama, Ana Isabel Munagorri Santos, Victor Manuel Amo, Maria Dolores Martin-Arranz, Fernando Bermejo, Jesus Martinez Cadilla, Cristina Rubin de Celix, Paola Fradejas Salazar, Antonio Lopez San Roman, Nuria Jimenez, Santiago Garcia Lopez, Anna Figuerola, Itxaso Jimenez, Francisco Jose Martinez Cerezo, Carlos Taxonera, Pilar Varela, Ruth de Francisco, David Monfort, Gema Molina Arriero, Alejandro Hernandez Camba, Francisco Javier Garcia-Alonso, Manuel Van Domselaar, Ramon Pajares Villarroya, Alejandro Nunez, Francisco Rodriguez Moranta, Ignacio Marin-Jimenez, Virginia Robles Alonso, Maria del Mar Martin Rodriguez, Patricia Camo-Monterde, Ivan Garcia Tercero, Mercedes Navarro Llavat, Lara Arias Garcia, Daniel Hervias Cruz, Sara Sulleiro, Cynthia Novella, Eugenia Vispo, Manuel Barreiro-de Acosta, Javier P. Gisbert
Summary: This large retrospective study demonstrates the effectiveness and safety of ustekinumab as a short- and long-term treatment option for patients with Crohn's disease in real-world clinical practice, including those with refractory disease.
INFLAMMATORY BOWEL DISEASES
(2022)
Article
Gastroenterology & Hepatology
Margalida Calafat, Miriam Manosa, Elena Ricart, Pilar Nos, Eva Iglesias-Flores, Isabel Vera, Antonio Lopez-SanRoman, Jordi Guardiola, Carlos Taxonera, Miguel Minguez, M. Dolores Martin-Arranz, Luisa de Castro, Ruth de Francisco, Montserrat Rivero, Esther Garcia-Planella, Xavier Calvet, Santiago Garcia-Lopez, Lucia Marquez, Fernando Gomollon, Jesus Barrio, Maria Esteve, Fernando Munoz, Javier P. Gisbert, Ana Gutierrez, Joaquin Hinojosa, Federico Arguelles-Arias, David Busquets, Luis Bujanda, Jose L. Perez-Calle, Beatriz Sicilia, Olga Merino, Pilar Martinez, Fernando Bermejo, Rufo Lorente, Manuel Barreiro-de Acosta, Cristina Rodriguez, Mariana Fe Garcia-Sepulcre, David Monfort, Fiorella Canete, Eugeni Domenech
Summary: The study found that elderly patients with inflammatory bowel disease have a similar risk of developing IFX-related adverse events and loss of response as younger patients.
JOURNAL OF CROHNS & COLITIS
(2022)
Review
Immunology
Ana Marquez, Javier Martin
Summary: Type 1 diabetes (T1D) is a chronic disease caused by the destruction of pancreatic beta cells by autoreactive T lymphocytes. Genetic studies have identified common susceptibility loci between T1D and other autoimmune diseases, which can help in the development of new therapeutic approaches. Identifying common pathogenic mechanisms is crucial for understanding the shared genetic component and improving treatment strategies.
SEMINARS IN IMMUNOPATHOLOGY
(2022)
Correction
Immunology
Ana Marquez, Javier Martin
SEMINARS IN IMMUNOPATHOLOGY
(2022)
Review
Pharmacology & Pharmacy
Adela Madrid-Paredes, Javier Martin, Ana Marquez
Summary: This review provides an updated overview of the potential role of -omic approaches in predicting the clinical efficacy of therapies used in Rheumatoid Arthritis (RA). Although significant efforts have been made, there are currently no validated biomarkers of drug response in RA. -Omic studies have shown significant differences in molecular profiles associated with treatment response for different drugs and cell types. Further research analyzing the response to the complete therapeutical arsenal used in RA, including less studied therapies like sarilumab and JAK inhibitors, is greatly needed.
Review
Rheumatology
Giorgio Trivioli, Ana Marquez, Davide Martorana, Michelangelo Tesi, Andreas Kronbichler, Paul A. Lyons, Augusto Vaglio
Summary: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare and complex disease driven by the interaction of genetic and environmental factors, with genetic associations varying based on ANCA specificity and contributing to differences in clinical phenotype and treatment response.
NATURE REVIEWS RHEUMATOLOGY
(2022)
Article
Medicine, General & Internal
Joao Carlos Batista Liz, Fernanda Genre, Veronica Pulito-Cueto, Sara Remuzgo-Martinez, Diana Prieto-Pena, Ana Marquez, Norberto Ortego-Centeno, Maria Teresa Leonardo, Ana Penalba, Javier Narvaez, Luis Martin-Penagos, Lara Belmar-Vega, Cristina Gomez-Fernandez, Jose A. Miranda-Filloy, Luis Caminal-Montero, Paz Collado, Diego De Argila, Patricia Quiroga-Colina, Esther F. Vicente-Rabaneda, Ana Triguero-Martinez, Esteban Rubio, Manuel Leon Luque, Juan Maria Blanco-Madrigal, Eva Galindez-Agirregoikoa, Javier Martin, Oreste Gualillo, Ricardo Blanco, Santos Castaneda, Miguel A. Gonzalez-Gay, Raquel Lopez-Mejias
Summary: The study found that CD40, BLK, and BANK1 genes are not significantly associated with the pathogenesis of IgAV.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Carlos Taxonera, David Olivares, Olga N. N. Lopez-Garcia, Cristina Alba
Summary: This study provides evidence on the real-world outcomes of ustekinumab for ulcerative colitis (UC) patients. The meta-analysis confirms the effectiveness of ustekinumab in achieving clinical remission and response in a highly treatment-refractory population of UC patients. The safety profile of ustekinumab is also demonstrated with low rates of adverse events and serious infections.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2023)
Review
Immunology
Garbine Roy, Fernando Fernandez-Banares, Maria Corzo, Sara Gomez-Aguililla, Carlota Garcia-Hoz, Concepcion Nunez
Summary: Accurate diagnosis of celiac disease (CD) remains challenging, but recent advances in diagnostic approaches based on immunophenotyping by flow cytometry have shown promise. The intraepithelial lymphogram, which measures the percentage of certain lymphocytes in the intestinal epithelium, has proven to be effective in diagnosing seronegative, low grade enteropathy, and potential CD, as well as in most CD patients on a gluten-free diet (GFD). Additionally, a blood lymphogram combined with a 3-day gluten challenge has shown high sensitivity and specificity in diagnosing seropositive Marsh 1 and Marsh 3 CD in individuals on a GFD. Flow cytometry can also be useful in identifying aberrant cells in refractory CD type II. These approaches offer highly accurate and practical methods for CD diagnosis.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Rheumatology
Javier Martinez-Lopez, Ana Marquez, Francesco Pegoraro, Lourdes Ortiz-Fernandez, Marialbert Acosta-Herrera, Martin Kerick, Elena Gelain, Eli L. Diamond, Benjamin H. Durham, Omar Abdel-Wahab, Ronald S. Go, Matthew J. Koster, Lorenzo Dagna, Corrado Campochiaro, Matthew Collin, Paul Milne, Juvianee I. Estrada-Veras, Kevin O'Brien, Matthias Papo, Fleur Cohen-Aubar, Zahir Amoura, Julien Haroche, Javier Martin, Augusto Vaglio
Summary: This study investigates the inherited genetic component of ECD through the first genome-wide association study. The results identify a new susceptibility locus at the 18q12.3 genomic region, which is associated with ECD, and functional annotation reveals additional genes that may be involved in the pathogenesis of the disease.
ARTHRITIS & RHEUMATOLOGY
(2023)