Article
Immunology
Guven Yenmis, Sema Sabancelebi, Evren Atak, Sila Basak Yalinkilic, Tugba Soydas, Tumay Sadikoglu
Summary: The study found that single-nucleotide polymorphisms (SNPs) of IL-23R rs10889677 and IL-10 rs3024498 are associated with susceptibility to BD, providing guidance for the etiology research of the disease.
IMMUNOLOGIC RESEARCH
(2023)
Article
Genetics & Heredity
Hongyan Liao, Zhuochun Huang, Junlong Zhang, Bin Yang
Summary: Our study for the first time demonstrated significant associations of rs7517847 in IL-23R and rs2275913 in IL-17A with the risk of IgAN in the Chinese Han population.
GENES AND IMMUNITY
(2022)
Article
Cardiac & Cardiovascular Systems
Brandon Chalazan, Denise Mol, Faisal A. Darbar, Aylin Ornelas-Loredo, Bahaa Al-Azzam, Yining Chen, David Tofovic, Arvind Sridhar, Zain Alzahrani, Patrick Ellinor, Dawood Darbar
Summary: This cohort study investigated the prevalence of rare likely pathogenic or pathogenic variants in candidate genes in African American and Hispanic/Latinx probands with early-onset atrial fibrillation. Most of the variants were loss-of-function variants in the TTN gene. Variants in other cardiac ion channels, sarcomeric proteins, and signaling molecules co-segregated with atrial fibrillation in some families. These findings may aid in understanding the genetic factors and potential treatments for atrial fibrillation in minority populations.
Article
Medicine, General & Internal
Scott C. Zimmerman, Willa D. Brenowitz, Camilla Calmasini, Sarah F. Ackley, Rebecca E. Graff, Stephen B. Asiimwe, Adam M. Staffaroni, Thomas J. Hoffmann, M. Maria Glymour
Summary: This study evaluated the age at which cognitive differences between individuals with higher and lower genetic risk of AD first appear, finding subtle differences in memory and attention before the age of 56.
Article
Pharmacology & Pharmacy
Kouzhu Zhu, Xiaoliang Ding, Zhiyao Chen, Qinhua Xi, Xueqin Pang, Weichang Chen, Liyan Miao
Summary: This study identifies the genetic variants rs2097432 in HLA-DQA1*05 and rs396991 in FCGR3A to be associated with the production of ATI in Chinese patients with CD. These findings have significant implications for the clinical management of CD.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Pediatrics
Wenhui Hu, Yan Feng, Ziqing Ye, Zifei Tang, Lai Qian, Yuhuan Wang, Ying Huang
Summary: The study found that in pediatric patients with Crohn's disease, the trough levels of infliximab (TLI) at week 14 were significantly associated with clinical remission (CR) at week 14 and mucosal healing (MH) at week 30. Genotyping rs3397 in TNFRSF1B may identify patients prone to generating immunogenicity to drugs.
FRONTIERS IN PEDIATRICS
(2021)
Article
Genetics & Heredity
Lihong Huang, Jiaqi Tang, Lijuan Lin, Ruihan Wang, Feng Chen, Yongyue Wei, Yi Si, Weiguo Fu
Summary: ULK4 gene was found to be significantly associated with the age of first onset of TBAD, with high levels of ULK4 gene expression being related to a later age of first onset of TBAD.
FRONTIERS IN GENETICS
(2022)
Editorial Material
Clinical Neurology
Jennifer Juhl Majersik, Paul Lacaze
Summary: The incidence of stroke in young adults is increasing, but there is a lack of research and clinical trial data regarding this population. The genetic determinants of early-onset stroke are still unknown.
Article
Biochemistry & Molecular Biology
Letizia Scola, Giovanni Pilato, Rosa Maria Giarratana, Giuseppa Luisa Sanfilippo, Domenico Lio, Claudia Colomba, Giovanni Maurizio Giammanco
Summary: This study reports on gene polymorphisms associated with antibody response to spotted fever, and highlights the potential role of IL-1 gene cluster variants in susceptibility to spotted fever infection. Additionally, IL-1 gene cluster SNP genotypes containing minor alleles and IL-18 rs187238 G positive genotypes are associated with an increased risk of severe complications.
Article
Oncology
Ye Tao, Hailong Shen, Yujie Liu, Guojun Li, Zhigang Huang, Yehai Liu
Summary: The study revealed the significant role of IL-23R in laryngeal cancer progression, with high expression associated with poor prognosis. Additionally, IL-23R was found to facilitate cancer cell proliferation and cisplatin resistance through phosphorylating STAT3.
Article
Clinical Neurology
Thomas Jaworek, Huichun Xu, Brady J. Gaynor, John W. Cole, Kristiina Rannikmae, Tara M. Stanne, Liisa Tomppo, Vida Abedi, Philippe Amouyel, Nicole D. Armstrong, John Attia, Steven Bell, Oscar R. Benavente, Giorgio B. Boncoraglio, Adam Butterworth, Jara Carcel-Marquez, Zhengming Chen, Michael Chong, Carlos Cruchaga, Mary Cushman, John Danesh, Stephanie Debette, David J. Duggan, Jon Peter Durda, Gunnar Engstrom, Chris Enzinger, Jessica D. Faul, Natalie S. Fecteau, Israel Fernandez-Cadenas, Christian Gieger, Anne-Katrin Giese, Raji P. Grewal, Ulrike Grittner, Aki S. Havulinna, Laura Heitsch, Marc C. Hochberg, Elizabeth Holliday, Jie Hu, Andreea Ilinca, Marguerite R. Irvin, Rebecca D. Jackson, Mina A. Jacob, Raquel Rabionet, Jordi Jimenez-Conde, Julie A. Johnson, Yoichiro Kamatani, Sharon L. R. Kardia, Masaru Koido, Michiaki Kubo, Leslie Lange, Jin-Moo Lee, Robin Lemmens, Christopher R. Levi, Jiang Li, Liming Li, Kuang Lin, Haley Lopez, Sothear Luke, Jane Maguire, Patrick F. McArdle, Caitrin W. McDonough, James F. Meschia, Tiina Metso, Martina Mueller-Nurasyid, Timothy D. O'Connor, Martin O'Donnell, Leema R. Peddareddygari, Joanna Pera, James A. Perry, Annette Peters, Jukka Putaala, Debashree Ray, Kathryn Rexrode, Marta Ribases, Jonathan Rosand, Peter M. Rothwell, Tatjana Rundek, Kathleen A. Ryan, Ralph L. Sacco, Veikko Salomaa, Cristina Sanchez-Mora, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Jennifer A. Smith, Nicholas L. Smith, Sylvia Wassertheil-Smoller, Martin Soderholm, O. Colin Stine, Daniel Strbian, Cathie L. M. Sudlow, Turgut Tatlisumak, Chikashi Terao, Vincent Thijs, Nuria P. Torres-Aguila, David-Alexandre Tregouet, Anil M. Tuladhar, Jan H. Veldink, Robin G. Walters, David R. Weir, Daniel Woo, Bradford B. Worrall, Charles C. Hong, Owen A. Ross, Ramin Zand, Frank-Erik de Leeuw, Arne G. Lindgren, Guillaume Pare, Christopher D. Anderson, Hugh S. Markus, Christina Jern, Rainer Malik, Martin Dichgans, Braxton D. Mitchell, Steven J. Kittner
Summary: Genome-wide association studies of early-onset ischemic stroke identified significant associations with ABO variants and genetic risk for venous thrombosis, suggesting a stronger role of prothrombotic factors in early-onset stroke compared to late-onset stroke.
Article
Oncology
Gabriela Vilas Boas Gomez, Gustavo Jacob Lourenco, Lummy Maria Oliveira Monteiro, Rafael Silva Rocha, Kimberly Anne McGrail Fernandez, Juan Angel Recio, Caroline Torricelli, Lilian Oliveira Coser, Alexandre Leite Rodrigues Oliveira, Juliana Carron, Aparecida Machado Moraes, Carmen Silvia Passos Lima
Summary: This study found that inherited abnormalities in the JAK-STAT signaling pathway are associated with the development and clinical characteristics of CM. Specific genotypes are associated with an increased risk of CM.
FRONTIERS IN ONCOLOGY
(2022)
Article
Psychiatry
Ester Sada-Fuente, Selena Aranda, Sergi Papiol, Urs Heilbronner, Maria Dolores Molto, Eduardo J. Aguilar, Javier Gonzalez-Penas, Alvaro Andreu-Bernabeu, Celso Arango, Benedicto Crespo-Facorro, Ana Gonzalez-Pinto, Lourdes Fananas, Barbara Arias, Julio Bobes, Javier Costas, Lourdes Martorell, Thomas G. Schulze, Janos L. Kalman, Elisabet Vilella, Gerard Muntane
Summary: Schizophrenia (SCZ) is a complex disorder with onset in late adolescence or early adulthood. A genome-wide association study (GWAS) was conducted to explore the genetic architecture of age at onset (AAO) in 4,740 individuals of European ancestry. The study revealed a moderate contribution of common variants to AAO and a negative association between AAO and common variants for SCZ, childhood maltreatment, and attention-deficit/hyperactivity disorder. Copy number variant (CNV) analysis showed an association between AAO and the length and number of deletions. This study provides valuable insights into the genetic factors influencing AAO of SCZ.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Health Care Sciences & Services
Alice Poulton, Lisette Curnow, Dhamidhu Eratne, Adrienne Sexton
Summary: Younger-onset dementia (YOD) refers to the onset of dementia before the age of 65 and may have genetic causes. This study aimed to investigate how individuals experience family communication about potential genetic risk and testing for YOD. The findings highlight the importance of addressing pre-existing family dynamics, individual coping mechanisms, and promoting autonomy in risk communication for YOD.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Health Care Sciences & Services
Shih-Chi Su, Chiao-Wen Lin, Po-Chung Ju, Lun-Ching Chang, Chun-Yi Chuang, Yu-Fan Liu, Ming-Ju Hsieh, Shun-Fa Yang
Summary: The study found no significant association between LINC00673 gene polymorphisms and the risk of OSCC, but patients carrying the rs9914618 minor allele were more likely to develop lymph node metastasis, particularly in habitual betel nut chewers or smokers. Elevated levels of LINC00673 were also associated with the development of large tumors in head and neck squamous cell carcinoma patients and the risk of lymphatic spread in smokers.
JOURNAL OF PERSONALIZED MEDICINE
(2021)