Article
Immunology
Mohammed Dashti, Rasheeba Nizam, Sindhu Jacob, Hessa Al-Kandari, Ebaa Al Ozairi, Thangavel Alphonse Thanaraj, Fahd Al-Mulla
Summary: This study examined the association between HLA class II alleles, haplotypes, and amino acids and T1D in the Kuwaiti population. The study identified specific HLA alleles and haplotypes that were associated with an increased risk of T1D or provided protection against T1D. Furthermore, novel associations between amino acid variations and T1D were discovered. These findings contribute to our understanding of the role of HLA genes in T1D.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Cell Biology
Shehab Alshiekh, Daniel E. Geraghty, Daniel Agardh
Summary: Although the distribution of HLA class I alleles differs between children with T1D and CD, the A*29:02:01 and C*05:01:01 alleles showed shared risk association of both diseases.
Article
Medicine, General & Internal
Komal Siddiqui, Arsalan Ahmed Uqaili, Muhammad Rafiq, Muhammad Aqeel Bhutto
Summary: Celiac disease is an autoimmune enteropathy triggered by gluten, with HLA-DQ2 and -DQ8 as risk alleles. HLA typing can aid in diagnosis, and the prevalence of DQ2 and DQ8 haplotypes shows DQ2 is more common. Awareness of molecular typing for Celiac disease can help laboratories and healthcare professionals in identifying and diagnosing the disease.
Review
Genetics & Heredity
Chester A. Alper
Summary: This review discusses the history and development of CEHs, focusing on complement, haplotypes, and the MHC. It highlights the genetic factors associated with diseases like type 1 diabetes and the concept of CEHs in understanding complex genetic traits.
FRONTIERS IN GENETICS
(2021)
Article
Endocrinology & Metabolism
Ying Xia, Yan Chen, Xia Li, Shuoming Luo, Jian Lin, Gan Huang, Yang Xiao, Zhiying Chen, Zhiguo Xie, Zhiguang Zhou
Summary: This study investigated whether HLA Class I loci differentially modulated the risk for and clinical features of Chinese people with classic T1D and LADA. The findings showed that Class I alleles had distinct effects on the risk and clinical features of classic T1D compared to LADA. These Class I variants could serve as additional markers in future screening among Chinese people.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Immunology
Karen Toledo-Stuardo, Carolina H. Ribeiro, Andrea Canals, Marcela Morales, Valentina Garate, Jose Rodriguez-Siza, Samantha Tello, Marco Bustamante, Ricardo Armisen, Douglas J. Matthies, Gerald Zapata-Torres, Patricio Gonzalez-Hormazabal, Maria Carmen Molina
Summary: This study revealed the association between MICA gene polymorphisms and susceptibility and prognosis of gastric cancer. Different MICA alleles were found to be significantly correlated with the risk and survival rates of gastric cancer patients.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Lisa E. Creary, Sridevi Gangavarapu, Stacy J. Caillier, Paola Cavalcante, Rita Frangiamore, Benedicte A. Lie, Mats Bengtsson, Hanne Flinstad Harbo, Susanna Brauner, Jill A. Hollenbach, Jorge R. Oksenberg, Pia Bernasconi, Angelina Hatlo Maniaol, Lennart Hammarstrom, Renato Mantegazza, Marcelo A. Fernandez-Vina
Summary: This study reveals the associations of specific HLA alleles and haplotypes with genetic susceptibility to myasthenia gravis in different populations. Different immunogenetic predisposition profiles for early-onset and late-onset MG were identified, indicating distinct genetic factors involved. The findings also suggest a potential role for non-coding HLA genetic variants in the pathogenesis of MG.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Multidisciplinary Sciences
Tatsuhiko Naito, Ken Suzuki, Jun Hirata, Yoichiro Kamatani, Koichi Matsuda, Tatsushi Toda, Yukinori Okada
Summary: The study presents a deep learning method called DEEP*HLA for imputing HLA genotypes, which achieves high accuracy, especially for low-frequency and rare alleles. The results demonstrate that DEEP*HLA can successfully disentangle HLA variant risk effects in diverse populations.
NATURE COMMUNICATIONS
(2021)
Article
Cell Biology
Adi Nagler, Shelly Kalaora, Chaya Barbolin, Anastasia Gangaev, Steven L. C. Ketelaars, Michal Alon, Joy Pai, Gil Benedek, Yfat Yahalom-Ronen, Noam Erez, Polina Greenberg, Gal Yagel, Aviyah Peri, Yishai Levin, Ansuman T. Satpathy, Erez Bar-Haim, Nir Paran, Pia Kvistborg, Yardena Samuels
Summary: This study identified SARS-CoV-2-derived peptides presented by HLA-I and HLA-II molecules, some of which are immunogenic, potentially aiding in the development of next-generation SARS-CoV-2 vaccines.
Article
Genetics & Heredity
Jana Sticht, Miguel Alvaro-Benito, Stefan Konigorski
Summary: Type 1 diabetes is an autoimmune disease with increasing incidence in high-income countries. Genetic and environmental factors play important roles in its pathogenesis. A comprehensive genetic association analysis of the HLA region can provide deeper insights into the etiology of the disease.
FRONTIERS IN GENETICS
(2021)
Article
Immunology
Daniel Lopez
Summary: This study analyzed the potential impact of the emerging SARS-CoV-2 Omicron variant on vaccine efficacy and concluded that the cytotoxic and helper cellular immune protection elicited by currently licensed vaccines are virtually unaffected by the highly contagious SARS-CoV-2 Omicron variant.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Juan Francisco Gutierrez-Bautista, Alba Martinez-Chamorro, Antonio Rodriguez-Nicolas, Antonio Rosales-Castillo, Pilar Jimenez, Per Anderson, Miguel Angel Lopez-Ruz, Miguel Angel Lopez-Nevot, Francisco Ruiz-Cabello
Summary: The MICA*A9 allele may be a risk factor for SARS-CoV-2 infection and symptomatic disease, but not for severe disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biology
Eli Olson, Theadora Ceccarelli, Malini Raghavan
Summary: The extreme polymorphisms of HLA class I proteins enable diverse peptide presentation, and the endo-lysosomes in moDCs play a role in the presentation of HLA class I molecules. HLA-B allotypes display varying responses to disruption of the endo-lysosomal pH, with HLA-B*08:01 being more resistant and HLA-B*35:01 being more sensitive. The degree of endo-lysosomal assembly dictates constitutive HLA class I expression and affects the efficiency of cross-presentation.
Article
Multidisciplinary Sciences
Halima Alnaqbi, Guan K. Tay, Sarah El Hajj Chehadeh, Habiba Alsafar
Summary: This study fills the knowledge gap of the structure and content of the MHC region in the UAE population, and identifies several CEHs in the population, including previously detected ones and novel ones. The results indicate substantial gene flow with neighboring ethnic groups and the presence of alleles and haplotypes associated with autoimmune diseases.
SCIENTIFIC REPORTS
(2022)
Review
Virology
Abdellatif Bouayad
Summary: Modifications in HLA-I expression are common in viral diseases, including SARS-CoV-2, and are used as an immune evasion strategy by viruses. These alterations result from a combination of virus-specific factors, genetically encoded mechanisms, and the status of host defenses. Research into these changes may provide better understanding of cellular immunity against viral variants.
REVIEWS IN MEDICAL VIROLOGY
(2021)
Article
Endocrinology & Metabolism
Julien Da Silva, Giuseppe Lepore, Tadej Battelino, Arcelia Arrieta, Javier Castaneda, Benyamin Grossman, John Shin, Ohad Cohen
Summary: The preliminary performance evaluation of the MiniMed 780G system in real-world settings shows that most users are able to achieve good glycemic control and minimize hypoglycemia, indicating the effectiveness of the system.
DIABETES TECHNOLOGY & THERAPEUTICS
(2022)
Letter
Endocrinology & Metabolism
Lars Savendahl, Tadej Battelino, Meryl Brod, Michael Hojby Rasmussen, Rasmus Juul Kildemoes, Paul Saenger
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Tadej Battelino, Richard M. Bergenstal, Angel Rodriguez, Laura Fernandez Lando, Ross Bray, Zhentao Tong, Katelyn Brown
Summary: This study compared the glucose control between tirzepatide and insulin degludec in type 2 diabetes patients using continuous glucose monitoring. The findings showed that tirzepatide had a higher proportion of time in the target glucose range at 52 weeks and 24 weeks, indicating its potential for better glycemic control.
LANCET DIABETES & ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Tadej Battelino, Thomas Danne, Steve Edelman, Pratik Choudhary, Eric Renard, Jukka Westerbacka, Bhaswati Mukherjee, Valerie Pilorget, Mathieu Coudert, Richard M. Bergenstal
Summary: This study compared the efficacy of the second-generation basal insulin analogues insulin glargine 300 U/ml (Gla-300) and insulin degludec 100 U/ml (IDeg-100) in adults with type 1 diabetes (T1D) using continuous glucose monitoring (CGM)-based time-in-range (TIR) as the primary endpoint. The results showed that Gla-300 was non-inferior to IDeg-100 in terms of glucose TIR and variability, with comparable hypoglycemia and safety profiles.
DIABETES OBESITY & METABOLISM
(2023)
Review
Endocrinology & Metabolism
Moshe Phillip, Revital Nimri, Richard M. Bergenstal, Katharine Barnard-Kelly, Thomas Danne, Roman Hovorka, Boris P. Kovatchev, Laurel H. Messer, Christopher G. Parkin, Louise Ambler-Osborn, Stephanie A. Amiel, Lia Bally, Roy W. Beck, Sarah Biester, Torben Biester, Julia E. Blanchette, Emanuele Bosi, Charlotte K. Boughton, Marc D. Breton, Sue A. Brown, Bruce A. Buckingham, Albert Cai, Anders L. Carlson, Jessica R. Castle, Pratik Choudhary, Kelly L. Close, Claudio Cobelli, Amy B. Criego, Elizabeth Davis, Carine de Beaufort, Martin de Bock, Daniel J. DeSalvo, J. Hans DeVries, Klemen Dovc, Francis J. Doyle, Laya Ekhlaspour, Naama Fisch Shvalb, Gregory P. Forlenza, Geraldine Gallen, Satish K. Garg, Dana C. Gershenoff, Linda A. Gonder-Frederick, Ahmad Haidar, Sara Hartnell, Lutz Heinemann, Simon Heller, Irl B. Hirsch, Korey K. Hood, Diana Isaacs, David C. Klonoff, Olga Kordonouri, Aaron Kowalski, Lori Laffel, Julia Lawton, Rayhan A. Lal, Lalantha Leelarathna, David M. Maahs, Helen R. Murphy, Kirsten Norgaard, David O'Neal, Sean Oser, Tamara Oser, Eric Renard, Michael C. Riddell, David Rodbard, Steven J. Russell, Desmond A. Schatz, Viral N. Shah, Jennifer L. Sherr, Gregg D. Simonson, R. Paul Wadwa, Candice Ward, Stuart A. Weinzimer, Emma G. Wilmot, Tadej Battelino
Summary: The global prevalence of diabetes continues to be a challenge and the advances in automated insulin delivery (AID) technologies have shown to be safe and effective in helping patients achieve their glycemic goals. However, there is a lack of guidance for clinicians on using AID systems in clinical settings.
Article
Endocrinology & Metabolism
Simon Heller, Tadej Battelino, Timothy S. Bailey, Thomas R. Pieber, Ulrike Hoevelmann, Leona Plum-Moerschel, Anita E. Melgaard, Ronnie Aronson, Linda A. DiMeglio, Thue Johansen, Thomas Danne
Summary: This study analyzed the safety and efficacy of dasiglucagon, a glucagon analogue, in treating severe hypoglycemia in patients with type 1 diabetes. The results showed that dasiglucagon had a similar safety profile as reconstituted glucagon and was more effective in glucose recovery compared to placebo.
DIABETES OBESITY & METABOLISM
(2023)
Editorial Material
Endocrinology & Metabolism
Jim Carroll, Julie Heverly, Moshe Phillip, Tadej Battelino, Satish Garg
DIABETES TECHNOLOGY & THERAPEUTICS
(2023)
Article
Infectious Diseases
Sandra Janezic, Aleksander Mahnic, Urska Kuhar, Jernej Kovac, Barbara Jenko Bizjan, Tom Koritnik, Tine Tesovnik, Robert Sket, Uros Krapez, Brigita Slavec, Tadej Malovrh, Tadej Battelino, Maja Rupnik, Tjasa Zohar Cretnik
Summary: Sequencing of SARS-CoV-2 PCR-positive samples was conducted in Slovenia from January to September 2021, revealing a total of 64 variants among 15,175 genomes sequenced. The B.1.258.17 variant dominated in January but was replaced by the Alpha variant within 9 weeks. The number of cases decreased during the summer, but the introduction of the Delta variant caused a fourth wave and outcompeted other variants. In the cell study, Alpha and Delta variants showed higher replication rates compared with previous dominant variants in Slovenia.
Article
Chemistry, Applied
Maja Berlic, Urska Jug, Tadej Battelino, Alenka Levart, Ivana Dimitrovska, Alen Albreht, Mojca Koros
Summary: This study found that antioxidant-enriched kindergarten menus contained more vegetables, nuts, and whole grain foods compared to standard menus, and their proximate composition and mineral content were more consistent with dietary recommendations. Additionally, the antioxidant capacity of these enriched menus was significantly higher, indicating that supplementing kindergarten meals with antioxidant-rich foods can improve dietary intake.
Review
Endocrinology & Metabolism
Stefano Cianfarani, Tadej Battelino
Summary: Novel and innovative therapeutic options are now available or will soon become available for children and adolescents with endocrine disorders and diabetes. While some of these treatments have shown effectiveness and safety in adults, their use and long-term effects in children are still limited and raise caution.
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Review
Biochemistry & Molecular Biology
Anja Stangar, Jernej Kovac, Robert Sket, Tine Tesovnik, Ana Zajec, Barbara Cugalj Kern, Barbara Jenko Bizjan, Tadej Battelino, Klemen Dovc
Summary: Type 1 diabetes is a common chronic endocrine disease with life-threatening comorbidities. Its etiopathogenesis involves genetic susceptibility and environmental factors such as microbial infections. Retroviruses and other repeat elements play a role in the predisposition to Type 1 diabetes, and their analysis methods present challenges.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Lars Savendahl, Tadej Battelino, Michael Hojby Rasmussen, Meryl Brod, Sebastian Rohrich, Paul Saenger, Reiko Horikawa
Summary: This study aimed to assess the efficacy and safety of somapacitan in treating growth hormone deficiency (GHD) in children, as well as the burden of treatment. The results showed that weekly injections of somapacitan could reduce the burden for patients and their parents/guardians compared to daily GH injections.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Genetics & Heredity
Matej Mlinaric, James R. Bonham, Viktor Kozich, Stefan Koelker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterstrom, Urh Groselj
Summary: The COVID-19 pandemic had negative impacts on the newborn screening programs, causing missed cases of inherited metabolic diseases due to decreased diagnostic quality. Contingency plans were implemented to address the problems emerged at the start of the pandemic, including staff shortage and modified work schedules. Adaptations and modifications were made in sample collection, resource sharing, and telemedicine utilization to ensure the continuity of the screening programs.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2023)
Article
Nutrition & Dietetics
Maja Berlic, Tadej Battelino, Mojca Korosec
Summary: This study aimed to investigate whether a meticulously crafted meal plan could effectively enhance the daily intake of nutritious foods for kindergarten children. The findings showed that the meal plan adhering to dietary guidelines significantly improved the intake of vegetables, whole grains, and nuts in kindergarten children. Importantly, only meals consumed within the kindergarten setting had a significant effect on overall intake.
Article
Biochemistry & Molecular Biology
Antonietta Robino, Gianluca Tornese, Davide Tinti, Klemen Dovc, Valeria Castorani, Andrea Conti, Roberto Franceschi, Ivana Rabbone, Riccardo Bonfanti, Tadej Battelino, Eulalia Catamo
Summary: This study investigated the association between HNF1A gene SNPs and type 1 diabetes (T1D) susceptibility. The study found that one of the SNPs was associated with insulin dose-adjusted glycated hemoglobin A1c (IDAA1c) and glycated hemoglobin (HbA1c) values. These findings suggest that HNF1A variants may be a risk factor for beta cell function and glycaemic control in individuals with T1D.