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JOURNAL ARTICLE
Cindy Im, Achal Neupane, Jessica L Baedke, Brian Lenny, Angela Delaney, Stephanie B Dixon, Eric J Chow, Sogol Mostoufi-Moab, Tianzhong Yang, Melissa A Richard, M Monica Gramatges, Philip J Lupo, Noha Sharafeldin, Smita Bhatia, Gregory T Armstrong, Melissa M Hudson, Kirsten K Ness, Leslie L Robison, Yutaka Yasui, Carmen L Wilson, Yadav Sapkota
PURPOSE: Type 2 diabetes mellitus (T2D) is a prevalent long-term complication of treatment in survivors of childhood cancer, with marked racial/ethnic differences in burden. In this study, we investigated trans-ancestral genetic risks for treatment-related T2D. PATIENTS AND METHODS: Leveraging whole-genome sequencing data from the St Jude Lifetime Cohort (N = 3,676, 304 clinically ascertained cases), we conducted ancestry-specific genome-wide association studies among survivors of African and European genetic ancestry (AFR and EUR, respectively) followed by trans-ancestry meta-analysis...
April 23, 2024: Journal of Clinical Oncology
#2
JOURNAL ARTICLE
Mei Sun, Zhe Zhang, Jingjing Zhang, Juewei Zhang, Zhuqiang Jia, Lin Zhao, Xin Han, Xiaohong Sun, Junwei Zong, Ying Zhu, Shouyu Wang
BACKGROUND: Previous observational studies have demonstrated a connection between the risk of Type 2 diabetes mellitus (T2DM) and gastrointestinal problems brought on by Helicobacter pylori (H. pylori) infection. However, little is understood about how these factors impact on T2DM. METHOD: This study used data from the GWAS database on H. pylori antibodies, gastroduodenal ulcers, chronic gastritis, gastric cancer, T2DM and information on potential mediators: obesity, glycosylated hemoglobin (HbA1c) and blood glucose levels...
2024: PloS One
#3
JOURNAL ARTICLE
Soo Heon Kwak, Ryan B Hernandez-Cancela, Daniel A DiCorpo, David E Condon, Jordi Merino, Peitao Wu, Jennifer A Brody, Jie Yao, Xiuqing Guo, Fariba Ahmadizar, Mariah Meyer, Murat Sincan, Josep M Mercader, Sujin Lee, Jeffrey Haessler, Ha My T Vy, Zhaotong Lin, Nicole D Armstrong, Shaopeng Gu, Noah L Tsao, Leslie A Lange, Ningyuan Wang, Kerri L Wiggins, Stella Trompet, Simin Liu, Ruth J F Loos, Renae Judy, Philip H Schroeder, Natalie R Hasbani, Maxime M Bos, Alanna C Morrison, Rebecca D Jackson, Alexander P Reiner, JoAnn E Manson, Ninad S Chaudhary, Lynn K Carmichael, Yii-Der Ida Chen, Kent D Taylor, Mohsen Ghanbari, Joyce van Meurs, Achilleas N Pitsillides, Bruce M Psaty, Raymond Noordam, Ron Do, Kyong Soo Park, J Wouter Jukema, Maryam Kavousi, Adolfo Correa, Stephen S Rich, Scott M Damrauer, Catherine Hajek, Nam H Cho, Marguerite R Irvin, James S Pankow, Girish N Nadkarni, Robert Sladek, Mark O Goodarzi, Jose C Florez, Daniel I Chasman, Susan R Heckbert, Charles Kooperberg, Josée Dupuis, Rajeev Malhotra, Paul S de Vries, Ching-Ti Liu, Jerome I Rotter, James B Meigs
OBJECTIVE: To identify genetic risk factors for incident cardiovascular disease (CVD) among people with type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS: We conducted a multiancestry time-to-event genome-wide association study for incident CVD among people with T2D. We also tested 204 known coronary artery disease (CAD) variants for association with incident CVD. RESULTS: Among 49,230 participants with T2D, 8,956 had incident CVD events (event rate 18...
April 23, 2024: Diabetes Care
#4
REVIEW
Lindsay E Bass, Rachel H Bonami
Islet autoantibodies predict type 1 diabetes (T1D) but can be transient in murine and human T1D and are not thought to be directly pathogenic. Rather, these autoantibodies signal B cell activity as antigen-presenting cells (APCs) that present islet autoantigen to diabetogenic T cells to promote T1D pathogenesis. Disrupting B cell APC function prevents T1D in mouse models and has shown promise in clinical trials. Autoantigen-specific B cells thus hold potential as sophisticated T1D biomarkers and therapeutic targets...
April 1, 2024: Antibodies
#5
REVIEW
Beatrice Xuan Ho, Adrian Kee Keong Teo, Natasha Hui Jin Ng
Human allogeneic pancreatic islet transplantation is a life-changing treatment for patients with severe Type 1 Diabetes (T1D) who suffer from hypoglycemia unawareness and high risk of severe hypoglycemia. However, intensive immunosuppression is required to prevent immune rejection of the graft, that may in turn lead to undesirable side effects such as toxicity to the islet cells, kidney toxicity, occurrence of opportunistic infections, and malignancies. The shortage of cadaveric human islet donors further limits islet transplantation as a treatment option for widespread adoption...
2024: Frontiers in Immunology
#6
JOURNAL ARTICLE
Guanglu Li, Shaojie Duan, Tao Zheng, Tiantian Zhu, Baoquan Qu, Lei Liu, Zunjing Liu
BACKGROUND: Migraine has an increased prevalence in several immune disorders, but genetic cause-effect relationships remain unclear. Mendelian randomization (MR) was used in this study to explore whether immune diseases are causally associated with migraine and its subtypes. METHODS: We conducted a two-sample bidirectional multivariate Mendelian randomization study. Single-nucleotide polymorphisms (SNP) for six immune diseases, including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), type 1 diabetes mellitus (T1D), allergic rhinitis (AR), asthma and psoriasis, were used as genetic instrumental variables...
2024: Frontiers in Immunology
#7
JOURNAL ARTICLE
Liyan Zou, Duosheng Zhu, Min Gong, Jiangyi Yu
Genetic predisposition to oxidative stress (OS) may influence the risk of Painful Diabetic Peripheral Neuropathy (PDPN). This study employed a Mendelian Randomization (MR) approach to investigate the causal relationship between genetic predisposition to OS and PDPN. Genetic instruments associated with OS biomarkers were selected as exposures. Summary-level data on PDPN was obtained from the largest available genome-wide association study (GWAS). MR analyses were conducted using the inverse-variance weighted (IVW) method, with sensitivity analyses employing the MR-Egger, weighted median, and MR-PRESSO approaches...
March 31, 2024: Cellular and Molecular Biology
#8
JOURNAL ARTICLE
Carola Buscemi, Cristiana Randazzo, Anna Maria Barile, Simona Bo, Valentina Ponzo, Rosalia Caldarella, Alexis Elias Malavazos, Roberta Caruso, Piero Colombrita, Martina Lombardo, Silvio Buscemi
BACKGROUND: Obesity is the result of energy intake (EI) chronically exceeding energy expenditure. However, the potential metabolic factors, including insulin resistance, remain unclear. This study longitudinally investigated factors associated with changes in body weight. SUBJECTS: A cohort of 707 adults without diabetes were investigated at the 4-year follow-up visit. The habitual intake of energy and macronutrients during the past 12 months was assessed using a validated Food Frequency Questionnaire for the local population...
April 22, 2024: Nutrition & Diabetes
#9
JOURNAL ARTICLE
Agnieszka Zawada, Marzena Skrzypczak-Zielińska, Sarah Gondek, Piotr Witkowski, Anna M Rychter, Alicja E Ratajczak-Pawłowska, Marek Karczewski, Agnieszka Dobrowolska, Iwona Krela-Kaźmierczak
Despite advances in insulin delivery and glucose monitoring technology, prevention of the progression of secondary complications in patients with type 1 diabetes (T1DM) remains a challenge. Beta cell replacement therapy in the form of islet or pancreas transplantation can restore long-term normoglycaemia with sustained periods of insulin independence among T1DM patients. However, the same genetic, behavioural, or gut microbiota-related factors that promoted autoimmunity and primary islet destruction may also affect the function of transplanted islets and the ultimate results of transplant procedures...
April 22, 2024: Endokrynologia Polska
#10
JOURNAL ARTICLE
Yunfeng Yu, Keke Tong, Gang Hu, Xinyu Yang, Jingyi Wu, Siyang Bai, Rong Yu
OBJECTIVE: The impact of hepatitis B virus (HBV) on the risk of type 2 diabetes (T2D) remains a controversial topic. This study aims to analyze the causal relationship between HBV and T2D using Mendelian randomization (MR). METHODS: Single nucleotide polymorphisms on chronic hepatitis B (CHB), liver fibrosis, liver cirrhosis, and T2D were obtained from BioBank Japan Project, European Bioinformatics Institute, and FinnGen. Mendelian randomization was utilized to evaluate exposure-outcome causality...
2024: Frontiers in Microbiology
#11
Raul Alba, Soroush Omidvarnia, Jared J Bies, Tim Carlson, Qusay Alfaori, Thwe Htay
This case emphasizes the complexity of Prader-Willi syndrome (PWS), the need for a collaborative approach from specialists, and a closer look at the various cardiovascular complexities associated with this syndrome. While current treatments focus on managing symptoms, ongoing genetic research offers hope for more favorable outcomes. Further studies are crucial to gauge the effectiveness of these treatments for PWS patients. We detail a patient with a complex medical history of PWS, further complicated by congenital heart disease with Eisenmenger's syndrome, diabetes mellitus, pulmonary hypertension, venous insufficiency, hypothyroidism, and hyperlipidemia...
March 2024: Curēus
#12
JOURNAL ARTICLE
Xing Li, Jinyao Shang, Shuang Li, Yue Wang
BACKGROUND: Mutations in mitochondrial tRNA (mt-tRNA) could be the origin of some type 2 diabetes mellitus (T2DM) cases, but the mechanism remained largely unknown. AIM: The aim of this study was to assess the impact of a novel mitochondrial tRNACys /tRNATyr A5826G mutation on the development and progression of T2DM. METHODS: A four-generation Han Chinese family with maternally inherited diabetes underwent clinical, genetic and biochemical analyses...
2024: Pharmacogenomics and Personalized Medicine
#13
JOURNAL ARTICLE
Guanshuai Guo, Xi Chen, Jingran Zhang, Xiangmin Meng, Aifeng Jia, Xinli Xing, Fenglei Huang, Xumei Zhang, Juan Liu, Shuying Li, Qiang Zhang
PURPOSE: This study aimed to explore the association between N-6 adenine-specific DNA methyltransferase 1 ( N6AMT1 ) single nucleotide polymorphisms (SNPs) and gestational diabetes mellitus (GDM) and the modification of the relationship by folate and vitamin B12 . METHODS: A cross-sectional study involving 1303 pregnant women (262 GDM and 1041 non-GDM) was performed in Tianjin, China. Nine SNPs in N6AMT1 were genotyped, and serum folate, vitamin B12 , and homocysteine (Hcy) levels were measured...
2024: Diabetes, Metabolic Syndrome and Obesity
#14
JOURNAL ARTICLE
Han Wu, Hui Wang, Lixia Sun, Mengchen Liu, Haoran Wang, Xianchang Sun, Wenjuan Zhang
PURPOSE: To study the relationship between the single nucleotide polymorphism (SNP) rs2278426 in the angiopoietin-like protein 8 gene ( ANGPTL8 ) and polycystic ovary syndrome (PCOS). PATIENTS AND METHODS: A total of 122 patients with PCOS and 108 controls were recruited for comparison of glucose, lipid, insulin, sex hormone, and ANGPTL8 levels. Polymerase chain reaction (PCR) and gene sequencing were performed for comparison of the frequency of the CC, CT, and TT rs2278426 genotypes and the rs2278426 allele distributions between the PCOS and control groups and between the obese and non-obese subgroups of the PCOS and control groups...
2024: Diabetes, Metabolic Syndrome and Obesity
#15
JOURNAL ARTICLE
Tess Vessels, Nicholas Strayer, Hyunjoon Lee, Karmel W Choi, Siwei Zhang, Lide Han, Theodore J Morley, Jordan W Smoller, Yaomin Xu, Douglas M Ruderfer
BACKGROUND: Patients with schizophrenia have substantial comorbidity that contributes to reduced life expectancy of 10 to 20 years. Identifying modifiable comorbidities could improve rates of premature mortality. Conditions that frequently co-occur but lack shared genetic risk with schizophrenia are more likely to be products of treatment, behavior, or environmental factors and therefore are enriched for potentially modifiable associations. METHODS: Phenome-wide comorbidity was calculated from electronic health records of 250,000 patients across 2 independent health care institutions (Vanderbilt University Medical Center and Mass General Brigham); associations with schizophrenia polygenic risk scores were calculated across the same phenotypes in linked biobanks...
May 2024: Biol Psychiatry Glob Open Sci
#16
JOURNAL ARTICLE
Hailey A Kresge, Freida Blostein, Slavina Goleva, Clara Albiñana, Joana A Revez, Naomi R Wray, Bjarni J Vilhjálmsson, Zhihong Zhu, John J McGrath, Lea K Davis
While it is known that vitamin D deficiency is associated with adverse bone outcomes, it remains unclear whether low vitamin D status may increase the risk of a wider range of health outcomes. We had the opportunity to explore the association between common genetic variants associated with both 25 hydroxyvitamin D (25OHD) and the vitamin D binding protein (DBP, encoded by the GC gene) with a comprehensive range of health disorders and laboratory tests in a large academic medical center. We used summary statistics for 25OHD and DBP to generate polygenic scores (PGS) for 66,482 participants with primarily European ancestry and 13,285 participants with primarily African ancestry from the Vanderbilt University Medical Center Biobank (BioVU)...
April 22, 2024: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
#17
JOURNAL ARTICLE
Julie Hervé, Karine Haurogné, Marie Allard, Sophie Sourice, Pierre Lindenbaum, Jean-Marie Bach, Blandine Lieubeau
Diabetes constitutes a major public health problem, with dramatic consequences for patients. Both genetic and environmental factors were shown to contribute to the different forms of the disease. The monogenic forms, found both in humans and in animal models, specially help to decipher the role of key genes in the physiopathology of the disease. Here, we describe the phenotype of early diabetes in a colony of NOD mice, with spontaneous invalidation of Akt2, that we called HYP. The HYP mice were characterised by a strong and chronic hyperglycaemia, beginning around the age of one month, especially in male mice...
April 20, 2024: Scientific Reports
#18
REVIEW
Sundararaj Stanleyraj Jeremiah, Abu Saleh Md Moin, Alexandra E Butler
Diabetes mellitus (DM) is comprised of two predominant subtypes: type 1 diabetes mellitus (T1DM), accounting for approximately 5 % of cases worldwide and resulting from autoimmune destruction of insulin-producing β-cells, and type 2 (T2DM), accounting for approximately 95 % of cases globally and characterized by the inability of pancreatic β-cells to meet the demand for insulin due to a relative β-cell deficit in the setting of peripheral insulin resistance. Both types of DM involve derangement of glucose metabolism and are metabolic diseases generally considered to be initiated by a combination of genetic and environmental factors...
April 18, 2024: Metabolism: Clinical and Experimental
#19
REVIEW
Renata Risi, Antonio J Vidal-Puig, Guillaume Bidault
Obesity and diabetes represent two increasing and invalidating public health issues that often coexist. It is acknowledged that fat mass excess predisposes to insulin resistance and type 2 diabetes mellitus (T2D), with the increasing incidence of the two diseases significantly associated. Moreover, emerging evidence suggests that obesity might also accelerate the appearance of type 1 diabetes (T1D), which is now a relatively frequent comorbidity in patients with obesity. It is a common clinical finding that not all patients with obesity will develop diabetes at the same level of adiposity, with gender, genetic, and ethnic factors playing an important role in defining the timing of diabetes appearance...
April 1, 2024: Journal of Endocrinology
#20
JOURNAL ARTICLE
Michaela Despina Carides, Ruchika Mehta, Jaco Louw, Farzahna Mohamed
SUMMARY: Thyroid-stimulating hormone-secreting pituitary adenomas (TSHomas) are rare, accounting for less than 1% of all pituitary adenomas. We present a case of hyperthyroidism secondary to a likely TSHoma and coexisting functional thyroid adenoma. Laboratory errors and familial abnormalities in thyroid function tests were ruled out, and a diagnosis of the toxic thyroid adenoma was confirmed on a thyroid uptake scan. However, the triiodothyronine suppression test was contraindicated due to the patient's cardiovascular disease, and the thyrotropin-releasing hormone stimulation test, measurement of glycoprotein hormone alpha-subunit, and genetic testing were unavailable...
April 1, 2024: Endocrinology, Diabetes & Metabolism Case Reports
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