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)
Article
Endocrinology & Metabolism
Agostino Milluzzo, Alberto Falorni, Annalisa Brozzetti, Giulia Pezzino, Letizia Tomaselli, Andrea Tumminia, Lucia Frittitta, Riccardo Vigneri, Laura Sciacca
Summary: The study reveals that familial aggregation and adult onset of T1D increase the risk for coexistent AIDS in T1D patients, particularly in the adult-onset subgroup of familial cases. These findings can guide clinicians to screen T1D patients for T1D-related AIDS.
ENDOCRINE PRACTICE
(2021)
Review
Endocrinology & Metabolism
Amber M. M. Luckett, Michael N. N. Weedon, Gareth Hawkes, R. David Leslie, Richard A. A. Oram, Struan F. A. Grant
Summary: Iterative advances in understanding of the genetics of type 1 diabetes have led to the identification of over 70 genetic regions linked to disease risk, with the HLA class II region being the strongest contributor. Genetic data availability and reduced costs have facilitated the development of polygenic scores, which aggregate risk variants into a single number. These scores have utility in distinguishing between different types of diabetes and in identifying at-risk infants, but further research is needed in non-European populations to accurately develop polygenic scores for diverse ancestries. Implementation barriers mainly arise from a lack of guidance and knowledge on integrating polygenic scores with other biomarkers and clinical variables.
Review
Health Care Sciences & Services
Mihaela Simona Popoviciu, Nirja Kaka, Yashendra Sethi, Neil Patel, Hitesh Chopra, Simona Cavalu
Summary: Type 1 diabetes mellitus (T1DM) is a common hyperglycemic disease caused by the autoimmune destruction of insulin-producing beta cells. It is often associated with other autoimmune illnesses, most commonly autoimmune thyroid disorders. Antithyroid antibodies are present in around 20% of children with T1DM at the start of the illness, and are more frequent in girls.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
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)
Review
Biochemistry & Molecular Biology
Veronika Ozana, Karel Hruska, Leonardo A. Sechi
Summary: Civilization factors have led to increased human exposure to mycobacteria, possibly due to urbanization, lifestyle changes, and advancements in the animal and plant industry. The association between mycobacteria and type 1 diabetes and other chronic inflammatory diseases highlights the importance of reducing human exposure to these neglected zoonotic mycobacteria to mitigate global health issues.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Immunology
Yimeng Wang, Linling Xu, Shuoming Luo, Xiaoxiao Sun, Jiaqi Li, Haipeng Pang, Jun Zhou, Yuemin Zhou, Xiajie Shi, Xia Li, Gan Huang, Zhiguo Xie, Zhiguang Zhou
Summary: This study investigated the expression patterns and methylation patterns of m6A regulators in immune cells of T1DM patients. The findings suggest that m6A mark and regulators may serve as promising targets for the diagnosis and treatment of T1DM.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Apostolia Topaloudi, Zoi Zagoriti, Alyssa Camille Flint, Melanie Belle Martinez, Zhiyu Yang, Fotis Tsetsos, Yiolanda-Panayiota Christou, George Lagoumintzis, Evangelia Yannaki, Eleni Zamba-Papanicolaou, John Tzartos, Xanthippi Tsekmekidou, Kalliopi Kotsa, Efstratios Maltezos, Nikolaos Papanas, Dimitrios Papazoglou, Ploumis Passadakis, Athanasios Roumeliotis, Stefanos Roumeliotis, Marios Theodoridis, Elias Thodis, Stylianos Panagoutsos, John Yovos, John Stamatoyannopoulos, Konstantinos Poulas, Kleopas Kleopa, Socrates Tzartos, Marianthi Georgitsi, Peristera Paschou
Summary: A genome-wide association study was conducted on the largest MG dataset to date, confirming the association of TNFRSF11A with MG and identifying AGRN as a novel susceptibility gene. The study revealed genetic correlations between MG and T1D, RA, ATD, and late-onset vitiligo, as well as multiple risk loci that appear pleiotropic across MG and related disorders. The findings suggest shared underlying genetic mechanisms among these autoimmune disorders.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Immunology
Anna-Mari Schroderus, Josh Poorbaugh, Samantha McElyea, Stephanie Beasley, Lin Zhang, Kirsti Nanto-Salonen, Reeta Rintamaki, Jussi Pihlajamaki, Mikael Knip, Riitta Veijola, Jorma Toppari, Jorma Ilonen, Robert J. Benschop, Tuure Kinnunen
Summary: This study aimed to examine plasma IL-21 levels in individuals at different stages of type 1 diabetes progression. The results showed that adults with established type 1 diabetes had higher plasma IL-21 levels compared to healthy controls, but no significant correlation was found with clinical variables. In children, plasma IL-21 levels were almost ten times higher, but no significant differences were detected between different groups.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Chemistry, Multidisciplinary
Lanxing Wang, Chunxiao Qi, Hongmei Cao, Yanwen Zhang, Xing Liu, Lina Qiu, Hang Wang, Lijuan Xu, Zhenzhou Wu, Jianfeng Liu, Shusen Wang, Deling Kong, Yuebing Wang
Summary: Researchers have found that HAL-loaded engineered cytokine-primed MSC-EVs (H@TI-EVs) with high expression of immune checkpoint molecule PD-L1 can accumulate in injured pancreas and treat type 1 diabetes (T1D) by reducing T cell density and activation, and promoting macrophage transition. This study provides a novel strategy for imaging and treatment of T1D, with great potential for clinical application.
Article
Endocrinology & Metabolism
Raymond Noordam, Kristi Laell, Roelof A. J. Smit, Triin Laisk, Ruth J. F. Loos, Reedik Magi, Ko Willems van Dijk, Diana van Heemst
Summary: Stratification based on age of diagnosis reveals subgroup-specific genetics and causal determinants of T2D, supporting the hypothesis that the pathogenesis of T2D changes with increasing age. Among the investigated risk factors, the association between BMI and T2D attenuated with increasing age of diagnosis.
Article
Multidisciplinary Sciences
Triin Laisk, Maarja Lepamets, Mariann Koel, Erik Abner, Andres Metspalu, Reedik Maegi
Summary: Pernicious anemia is a rare condition with a clear autoimmune basis, often caused by autoimmune gastritis, and associated with a higher risk of other autoimmune disorders. A genome-wide association study meta-analysis identified significant associations between pernicious anemia and genetic risk factors in genes such as PTPN22, PNPT1, HLA-DQB1, IL2RA, and AIRE.
NATURE COMMUNICATIONS
(2021)
Article
Chemistry, Medicinal
Sebla Gunes, Jiangping Wu, Berk Ozyilmaz, Reyhan Deveci Sevim, Tolga Unuvar, Ahmet Anik
Summary: This study reports the association of EFNB1 mutation with T1DM and autoimmune thyroiditis in CFNS patients for the first time.
Article
Endocrinology & Metabolism
M. Hernandez, Y. Novoa-Medina, R. Faner, E. Palou, A. Esquerda, E. Castelblanco, A. M. Wagner, D. Mauricio
Summary: This study found that LADA patients have similar genetic characteristics to those diagnosed with T1DM after the age of 30, but fewer risk alleles than those diagnosed before the age of 30. These findings may contribute to a better understanding of the relationship between LADA and other types of diabetes.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Mary M. Barker, Melanie J. Davies, Francesco Zaccardi, Emer M. Brady, Andrew P. Hall, Joseph J. Henson, Kamlesh Khunti, Amelia Lake, Emma L. Redman, Alex V. Rowlands, Jane Speight, Tom Yates, Jack A. Sargeant, Michelle Hadjiconstantinou
Summary: This study investigated the association between age at diagnosis of type 2 diabetes and depressive symptoms, diabetes-specific distress, and self-compassion. The results showed that younger age at diagnosis was significantly associated with higher levels of depressive symptoms and diabetes-specific distress, and lower levels of self-compassion.
Article
Endocrinology & Metabolism
Jussi Inkeri, Krishna Adeshara, Valma Harjutsalo, Carol Forsblom, Ron Liebkind, Turgut Tatlisumak, Lena M. Thorn, Per-Henrik Groop, Sara Shams, Juha Martola, Jukka Putaala, Daniel Gordin
Summary: There was no association between glycemic control and cSVD in neurologically asymptomatic individuals with type 1 diabetes, prompting further studies to search for underlying factors of cSVD, despite the presence of a large number of signs of cerebrovascular pathology in these individuals after two decades of chronic hyperglycemia.
ACTA DIABETOLOGICA
(2022)
Article
Endocrinology & Metabolism
Raija Lithovius, Anni A. Antikainen, Stefan Mutter, Erkka Valo, Carol Forsblom, Valma Harjutsalo, Niina Sandholm, Per-Henrik Groop
Summary: This study explores the use of a genetic risk score (GRS) for coronary artery disease (CAD) risk prediction in individuals with type 1 diabetes. The GRS showed similar predictive performance to established clinical markers and was more effective in younger individuals.
Editorial Material
Endocrinology & Metabolism
Erika B. Parente, Emma H. Dahlstrom, Valma Harjutsalo, Jussi Inkeri, Stefan Mutter, Carol Forsblom, Niina Sandholm, Daniel Gordin, Per-Henrik Groop
Article
Medicine, General & Internal
Fanny Jansson Sigfrids, Lars Stechemesser, Emma H. Dahlstrom, Carol M. Forsblom, Valma Harjutsalo, Raimund Weitgasser, Marja-Riitta Taskinen, Per-Henrik Groop
Summary: The study found that apoC-III can independently predict the progression of DKD in patients with type 1 diabetes, and is associated with cardiovascular events and mortality, especially in individuals with albuminuria.
JOURNAL OF INTERNAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Fanny Jansson Sigfrids, Per-Henrik Groop, Valma Harjutsalo
Summary: This study examined the incidence and temporal trends of albuminuria in type 1 diabetes patients in Finland. The cumulative incidence of severe albuminuria decreased over time, while the incidence of moderate albuminuria remained stable. These findings are important for understanding the complications of type 1 diabetes.
LANCET DIABETES & ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Niina Sandholm, Joanne B. Cole, Viji Nair, Xin Sheng, Hongbo Liu, Emma Ahlqvist, Natalie van Zuydam, Emma H. Dahlstrom, Damian Fermin, Laura J. Smyth, Rany M. Salem, Carol Forsblom, Erkka Valo, Valma Harjutsalo, Eoin P. Brennan, Gareth J. McKay, Darrell Andrews, Ross Doyle, Helen C. Looker, Robert G. Nelson, Colin Palmer, Amy Jayne McKnight, Catherine Godson, Alexander P. Maxwell, Leif Groop, Mark I. McCarthy, Matthias Kretzler, Katalin Susztak, Joel N. Hirschhorn, Jose C. Florez, Per-Henrik Groop
Summary: By performing meta-analysis of previous genome-wide association studies (GWAS) on diabetic kidney disease (DKD) and integrating the results with renal transcriptomics datasets, novel genetic factors and genes contributing to DKD have been identified.
Article
Endocrinology & Metabolism
Anna Syreeni, Emma H. Dahlstrom, Stefanie Hagg-Holmberg, Carol Forsblom, Marika I. Eriksson, Valma Harjutsalo, Jukka Putaala, Per-Henrik Groop, Niina Sandholm, Lena M. Thorn
Summary: This study aimed to investigate the relationship between the haptoglobin Hp1/2 genotype and stroke in individuals with type 1 diabetes. The results showed that the haptoglobin genotypes had no association with the risk of stroke or survival after stroke in this cohort.
Letter
Endocrinology & Metabolism
Erika B. Parente, Stefan Mutter, Lena M. Thorn, Valma Harjutsalo, Per-Henrik Groop
Article
Endocrinology & Metabolism
Patrik Smidtslund, Fanny Jansson Sigfrids, Anni Ylinen, Nina Elonen, Valma Harjutsalo, Per-Henrik Groop, Lena M. Thorn
Summary: This study aims to investigate the prognosis after a first-ever myocardial infarction (MI) in individuals with type 1 diabetes and how different MI- and diabetes-related factors affect the prognosis and risk of secondary cardiovascular events. The study found that individuals with type 1 diabetes have a high cardiovascular and diabetes-related mortality after their first-ever MI, and poor kidney function is associated with high mortality and excessive risk of secondary cardiovascular events.
Article
Genetics & Heredity
Niina Sandholm, Ronja Hotakainen, Jani K. Haukka, Fanny Jansson Sigfrids, Emma H. Dahlstrom, Anni A. Antikainen, Erkka Valo, Anna Syreeni, Elina Kilpelainen, Anastasia Kytola, Aarno Palotie, Valma Harjutsalo, Carol Forsblom, Per-Henrik Groop
Summary: The study identified variants associated with lipoproteins and lipids, as well as rare loss-of-function protein-altering variants, suggesting novel therapeutic targets for preventing cardiovascular disease.
Review
Endocrinology & Metabolism
Drazenka Pongrac Barlovic, Valma Harjutsalo, Per-Henrik Groop
Summary: Type 1 diabetes is a complex disease with dynamic changes in insulin need. The FinnDiane Study in Finland has provided valuable insights into the effects of exercise and nutrition on glycemic control and the development of diabetes complications in individuals with type 1 diabetes.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Correction
Cardiac & Cardiovascular Systems
Anniina Tynjala, Valma Harjutsalo, Fanny Jansson Sigfrids, Per-Henrik Groop, Daniel Gordin
CARDIOVASCULAR DIABETOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Anniina Tynjala, Valma Harjutsalo, Fanny Jansson Sigfrids, Per-Henrik Groop, Daniel Gordin
Summary: This study investigated the association between long-term glycemic variability and arterial stiffness in patients with type 1 diabetes. The results showed that the variability of HbA1c was significantly correlated with arterial stiffness. Importantly, this association was independent of the HbA1c mean.
CARDIOVASCULAR DIABETOLOGY
(2023)
Article
Multidisciplinary Sciences
Anmol Kumar, Stefan Mutter, Erika B. Parente, Valma Harjutsalo, Raija Lithovius, Sinnakaruppan Mathavan, Markku Lehto, Timo P. Hiltunen, Kimmo K. Kontula, Per-Henrik Groop
Summary: This study investigated the effect of L-type calcium channel blockers (LTCCBs) on VEGF concentrations in retinal cells and human serum, and evaluated the association between LTCCB usage and risk of severe diabetic eye disease (SDED). The results showed that LTCCBs increase VEGF concentrations in retinal cells and human serum, but they are not associated with the risk of SDED in adults with type 1 diabetes.
Article
Health Care Sciences & Services
Valma Harjutsalo, Milla Kallio, Carol Forsblom, Per-Henrik Groop, FinnDiane Study Grp
Summary: This study investigated the impact of diabetic nephropathy and diabetic retinopathy on the risk of chronic limb threatening ischemia (CLTI) in patients with type 1 diabetes. It found that diabetic nephropathy and severe diabetic retinopathy were key risk factors for CLTI in these patients.
LANCET REGIONAL HEALTH-EUROPE
(2023)