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https://www.readbyqxmd.com/read/29652901/early-postnatal-soluble-fgfr3-therapy-prevents-the-atypical-development-of-obesity-in-achondroplasia
#1
Celine Saint-Laurent, Stephanie Garcia, Vincent Sarrazy, Karine Dumas, Florence Authier, Sophie Sore, Albert Tran, Philippe Gual, Isabelle Gennero, Jean-Pierre Salles, Elvire Gouze
BACKGROUND: Achondroplasia is a rare genetic disease is characterized by abnormal bone development and early obesity. While the bone aspect of the disease has been thoroughly studied, early obesity affecting approximately 50% of them during childhood has been somewhat neglected. It nevertheless represents a major health problem in these patients, and is associated to life-threatening complications including increasing risk of cardiovascular pathologies. We have thus decided to study obesity in patients and to use the mouse model to evaluate if soluble FGFR3 therapy, an innovative treatment approach for achondroplasia, could also impact the development of this significant complication...
2018: PloS One
https://www.readbyqxmd.com/read/29652635/far2-is-associated-with-kidney-disease-in-mice-and-humans
#2
Grant Backer, Sean Eddy, Susan M Sheehan, Yuka Takemon, Anna Reznichenko, Holly S Savage, Matthias Kretzler, Ron Korstanje
Mesangial matrix expansion is an important process in the initiation of chronic kidney disease, yet the genetic factors driving its development are unknown. Our previous studies have implicated Far2 as a candidate gene associated with differences in mesangial matrix expansion between mouse inbred strains. Consistent with the hypothesis that increased expression of Far2 leads to mesangial matrix expansion through increased production of platelet-activating factor precursors, we show that FAR2 is capable of mediating de novo platelet-activating factor synthesis in vitro and driven by the transcription factor NKX3...
April 13, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29651674/intestinal-microbiota-and-kidney-diseases
#3
Ao Xie, Jie Sheng, Feng Zheng
Kidney diseases are common and the incidence rate is increasing. Gut microbiota is involved in metabolic and immune regulation of the host. Genetic, alimentary and environmental disease factors may change gut flora and increase opportunistic and pathogenic bacteria, contributing to immune or non-immune mediated kidney diseases including IgA nephropathy and diabetic nephropathy. Additionally, bacterial metabolites may be a source of uremic toxins. Thus, identififi cation of diversity, composition, and metabolic and immunologic features of gut bacteria in chronic kidney diseases may help understand pathogenetic mechanism and develop therapy for diseases...
April 12, 2018: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/29650774/genetic-variants-in-cpa6-and-prpf31-are-associated-with-variation-in-response-to-metformin-in-individuals-with-type-2-diabetes
#4
Daniel M Rotroff, Sook Wah Yee, Kaixin Zhou, Skylar W Marvel, Hetal S Shah, John R Jack, Tammy M Havener, Monique M Hedderson, Michiaki Kubo, Mark A Herman, He Gao, Josyf C Mychaleckyi, Howard L McLeod, Alessandro Doria, Kathleen M Giacomini, Ewan R Pearson, Michael J Wagner, John B Buse, Alison A Motsinger-Reif
Metformin is the first line treatment for type 2 diabetes (T2D). Although widely prescribed, the glucose-lowering mechanism for metformin is incompletely understood. Here we used a genome-wide association approach in a diverse group of individuals with T2D from the Action to Control Cardiovascular Risk in Diabetes (ACCORD) clinical trial to identify common and rare variants associated with HbA1c response to metformin treatment, and followed up these findings in four replication cohorts. Common variants in PRPF31 and CPA6 , were associated with worse and better metformin response, respectively (p<5×10-6 ), and meta-analysis in independent cohorts displayed similar associations with metformin response (p=1...
April 12, 2018: Diabetes
https://www.readbyqxmd.com/read/29650030/harnessing-qatar-biobank-to-understand-type-2-diabetes-and-obesity-in-adult-qataris-from-the-first-qatar-biobank-project
#5
Ehsan Ullah, Raghvendra Mall, Reda Rawi, Naima M Moustaid, Adeel A Butt, Halima Bensmail
BACKGROUND: Human tissues are invaluable resources for researchers worldwide. Biobanks are repositories of such human tissues and can have a strategic importance for genetic research, clinical care, and future discoveries and treatments. One of the aims of Qatar Biobank is to improve the understanding and treatment of common diseases afflicting Qatari population such as obesity and diabetes. METHODS: In this study we apply a panorama of state-of-the-art statistical methods and machine learning algorithms to investigate associations and risk factors for diabetes and obesity on a sample of 1000 Qatari population...
April 12, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29649429/deletion-of-the-insulin-receptor-in-sensory-neurons-increases-pancreatic-insulin-levels
#6
Caleb W Grote, Natalie M Wilson, Natalie K Katz, Brianne L Guilford, Janelle M Ryals, Lesya Novikova, Lisa Stehno-Bittel, Douglas E Wright
Insulin is known to have neurotrophic properties and loss of insulin support to sensory neurons may contribute to peripheral diabetic neuropathy (PDN). Here, genetically-modified mice were generated in which peripheral sensory neurons lacked the insulin receptor (SNIRKO mice) to determine whether disrupted sensory neuron insulin signaling plays a crucial role in the development of PDN and whether SNIRKO mice develop symptoms of PDN due to reduced insulin neurotrophic support. Our results revealed that SNIRKO mice were euglycemic and never displayed significant changes in a wide range of sensorimotor behaviors, nerve conduction velocity or intraepidermal nerve fiber density...
April 9, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29643945/epigenome-wide-association-study-of-metabolic-syndrome-in-african-american-adults
#7
Tomi Akinyemiju, Anh N Do, Amit Patki, Stella Aslibekyan, Degui Zhi, Bertha Hidalgo, Hemant K Tiwari, Devin Absher, Xin Geng, Donna K Arnett, Marguerite R Irvin
Background: The high prevalence of obesity among US adults has resulted in significant increases in associated metabolic disorders such as diabetes, dyslipidemia, and high blood pressure. Together, these disorders constitute metabolic syndrome, a clinically defined condition highly prevalent among African-Americans. Identifying epigenetic alterations associated with metabolic syndrome may provide additional information regarding etiology beyond current evidence from genome-wide association studies...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29643912/association-of-rage-gene-polymorphism-with-type-2-diabetes-mellitus-in-local-population
#8
Saba Zulfiqar, Fatma Hussain, Amer Jamil, Nisar Ahmed
Objectives: Type-2 diabetes mellitus (T2DM) is an endocrine disease having a significant genetic component. Polymorphisms of many genes may affect hereditary vulnerability of the disease that is characterized by insulin resistance and islet disorder. As the genetic basis of T2DM can vary between ethnic groups, it is important to investigate the genetic link of T2DM in Pakistani populace. This study was aimed to assess the association of receptor for advanced glycation end product (RAGE) gene polymorphism (-429T>C) with Type-2 diabetes mellitus within local populace...
January 2018: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29629376/association-of-ephx2-r287q-polymorphism-with-diabetic-nephropathy-in-chinese-type-2-diabetic-patients
#9
Liang Ma, Meihua Yan, Xiaomu Kong, Yongwei Jiang, Tingting Zhao, Hailing Zhao, Qian Liu, Haojun Zhang, Peng Liu, Yongtong Cao, Ping Li
The aim of this study was to investigate the relationship between EPHX2 rs751141 (R287Q polymorphism) and diabetic nephropathy (DN) in Chinese type 2 diabetes (T2D). This case-control study explored the association between EPHX2 rs751141 and DN in a total of 870 Chinese T2D patients (406 T2D patients with DN and 464 T2D patients without DN). DNA was extracted from peripheral leukocytes of the patients and rs751141 was genotyped. The A allele frequency of rs751141 was significantly lower in DN patients (20.94%) compared with non-DN controls (27...
2018: Journal of Diabetes Research
https://www.readbyqxmd.com/read/29629372/glomerular-endothelial-cells-stress-and-cross-talk-with-podocytes-in-the-development-of-diabetic-kidney-disease
#10
REVIEW
Ilse Sofia Daehn
Diabetic kidney disease (DKD) is one of the major causes of morbidity and mortality in diabetic patients and also the leading single cause of end-stage renal disease in the United States. A large proportion of diabetic patients develop DKD and others don't, even with comparable blood glucose levels, indicating a significant genetic component of disease susceptibility. The glomerulus is the primary site of diabetic injury in the kidney, glomerular hypertrophy and podocyte depletion are glomerular hallmarks of progressive DKD, and the degree of podocyte loss correlates with severity of the disease...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29627525/adiponectin-gene-polymorphisms-as-a-predictor-for-development-of-type-2-diabetes-mellitus-in-iraqi-population
#11
Majid Kadhum Hussain, Falah Abdulhasan Deli, Abdul Hussein A Algenabi, Khalid H Abdul-Rudha
BACKGROUND: Type 2 diabetes mellitus (T2DM) incidence is increasing globally and nationally. The etiology of the disease includes environmental and genetic factors. Polymorphism of adiponectin gene was found to be implicated in the pathogenesis of T2DM in numerous populations. METHODS: A case-control study was conducted to assess the association of rs2241766 and rs822395 SNPs of adiponectin gene (ADIPOQ) with T2DM in Iraqi population. The study included 400 patients with T2DM and 400 healthy individuals served as a control group...
April 5, 2018: Gene
https://www.readbyqxmd.com/read/29627490/genetically-determined-enlargement-of-carotid-body-evaluated-using-computed-angiotomography
#12
Przemysław Jaźwiec, Paweł Gać, Monika Chaszczewska-Markowska, Katarzyna Bogunia-Kubik, Grzegorz Mazur, Rafał Poręba
It has recently been established that carotid bodies play a significant role in the regulation of activities of the cardiovascular system as well as in the pathogenesis of arterial hypertension, heart failure and diabetes. Aim of study was to determinate the influence of polymorphisms within genes of the renin-angiotensin-aldosterone system (RAAS) on the volume of the carotid bodies (CB) in patients with hypertension (HTA). The study group consisted of 77 patients with HTA. All patients were genotyped for single-nucleotide polymorphisms of genes coding for: angiotensinogen: rs4762, rs5049, rs5051 and rs699; angiotensin-converting enzyme: rs4343; angiotensin receptor type 1 gene (AGTR1): rs5182 and rs5186; and the aldosterone synthase: rs1799998...
April 5, 2018: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/29626590/altered-expression-of-wfs1-and-notch2-genes-associated-with-diabetic-nephropathy-in-t2dm-patients
#13
Sahar A Sharaf, Nagwa A Kantoush, Dina F Ayoub, Alshaymaa A Ibrahim, Amaal A Abdelaal, Rokaya Abdel Aziz, Mahmoud M ElHefnawi, Amira N Ahmed
AIM: The increased incidence of type 2 diabetes mellitus (T2DM) and the importance of early identification and management of its complications, especially diabetic nephropathy (DN), have spotted the light on genetic factors that increase risk of T2DM and its related nephropathy. The present study aimed at investigating expression of (KCNJ11, ABCC8, JAZF1, WFS1, PPARG, NOTCH2 and EXOSC4) genes in peripheral blood of T2DM patients. METHOD: The study included 30 non-complicated T2DM patients, 30 patients with DN and 40 healthy controls...
April 4, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29626585/the-better-diabetes-diagnosis-bdd-study-a-review-of-a-nationwide-prospective-cohort-study-in-sweden
#14
REVIEW
M Persson, C Becker, H Elding Larsson, Å Lernmark, G Forsander, S A Ivarsson, J Ludvigsson, U Samuelsson, C Marcus, A Carlsson
The incidence of type 1 diabetes (T1D) in Sweden is one of the highest in the world. However, the possibility of other types of diabetes must also be considered. In addition, individuals with T1D constitute a heterogeneous group. A precise classification of diabetes is a prerequisite for optimal outcome. For precise classification, knowledge on the distribution of genetic factors, biochemical markers and clinical features in individuals with new onset of diabetes is needed. The Better Diabetes Diagnosis (BDD), is a nationwide study in Sweden with the primary aim to facilitate a more precise classification and diagnosis of diabetes in order to enable the most adequate treatment for each patient...
April 4, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29626220/metabolomics-insights-into-early-type-2-diabetes-pathogenesis-and-detection-in-individuals-with-normal-fasting-glucose
#15
Jordi Merino, Aaron Leong, Ching-Ti Liu, Bianca Porneala, Geoffrey A Walford, Marcin von Grotthuss, Thomas J Wang, Jason Flannick, Josée Dupuis, Daniel Levy, Robert E Gerszten, Jose C Florez, James B Meigs
AIMS/HYPOTHESIS: Identifying the metabolite profile of individuals with normal fasting glucose (NFG [<5.55 mmol/l]) who progressed to type 2 diabetes may give novel insights into early type 2 diabetes disease interception and detection. METHODS: We conducted a population-based prospective study among 1150 Framingham Heart Study Offspring cohort participants, age 40-65 years, with NFG. Plasma metabolites were profiled by LC-MS/MS. Penalised regression models were used to select measured metabolites for type 2 diabetes incidence classification (training dataset) and to internally validate the discriminatory capability of selected metabolites beyond conventional type 2 diabetes risk factors (testing dataset)...
April 6, 2018: Diabetologia
https://www.readbyqxmd.com/read/29625575/targeted-genome-engineering-in-human-induced-pluripotent-stem-cells-from-patients-with-hemophilia-b-using-the-crispr-cas9-system
#16
Cuicui Lyu, Jun Shen, Rui Wang, Haihui Gu, Jianping Zhang, Feng Xue, Xiaofan Liu, Wei Liu, Rongfeng Fu, Liyan Zhang, Huiyuan Li, Xiaobing Zhang, Tao Cheng, Renchi Yang, Lei Zhang
BACKGROUND: Replacement therapy for hemophilia remains a lifelong treatment. Only gene therapy can cure hemophilia at a fundamental level. The clustered regularly interspaced short palindromic repeats-CRISPR associated nuclease 9 (CRISPR-Cas9) system is a versatile and convenient genome editing tool which can be applied to gene therapy for hemophilia. METHODS: A patient's induced pluripotent stem cells (iPSCs) were generated from their peripheral blood mononuclear cells (PBMNCs) using episomal vectors...
April 6, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29625024/a-common-type-2-diabetes-risk-variant-potentiates-activity-of-an-evolutionarily-conserved-islet-stretch-enhancer-and-increases-c2cd4a-and-c2cd4b-expression
#17
Ina Kycia, Brooke N Wolford, Jeroen R Huyghe, Christian Fuchsberger, Swarooparani Vadlamudi, Romy Kursawe, Ryan P Welch, Ricardo d'Oliveira Albanus, Asli Uyar, Shubham Khetan, Nathan Lawlor, Mohan Bolisetty, Anubhuti Mathur, Johanna Kuusisto, Markku Laakso, Duygu Ucar, Karen L Mohlke, Michael Boehnke, Francis S Collins, Stephen C J Parker, Michael L Stitzel
Genome-wide association studies (GWASs) and functional genomics approaches implicate enhancer disruption in islet dysfunction and type 2 diabetes (T2D) risk. We applied genetic fine-mapping and functional (epi)genomic approaches to a T2D- and proinsulin-associated 15q22.2 locus to identify a most likely causal variant, determine its direction of effect, and elucidate plausible target genes. Fine-mapping and conditional analyses of proinsulin levels of 8,635 non-diabetic individuals from the METSIM study support a single association signal represented by a cluster of 16 strongly associated (p < 10-17 ) variants in high linkage disequilibrium (r2 > 0...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29623345/lp-pla-2-activity-is-associated-with-increased-risk-of-diabetic-retinopathy-a-longitudinal-disease-progression-study
#18
Moneeza K Siddiqui, Gwen Kennedy, Fiona Carr, Alexander S F Doney, Ewan R Pearson, Andrew D Morris, Toby Johnson, Megan M McLaughlin, Rachel E Williams, Colin N A Palmer
AIMS/HYPOTHESIS: The aim of the study was to examine the association between lipoprotein-associated phospholipase A2 (Lp-PLA2 ) activity levels and incident diabetic retinopathy and change in retinopathy grade. METHODS: This was a cohort study of diabetic participants with serum collected at baseline and routinely collected diabetic retinal screening data. Participants with type 2 diabetes from the GoDARTS (Genetics of Diabetes Audit and Research in Tayside Scotland) cohort were used...
April 6, 2018: Diabetologia
https://www.readbyqxmd.com/read/29623227/fulminant-diabetes-in-a-patient-with-advanced-melanoma-on-nivolumab
#19
Nora Chokr, Hafsa Farooq, Elizabeth Guadalupe
Background: Anti-PD-1 agents were approved for advanced melanoma after the landmark trial Checkmate-037. Anti-PD-1 agents can breach immunologic tolerance. Fulminant diabetes is an immune endocrinopathy that results from a violent immune attack leading to complete destruction of pancreatic beta cells in genetically predisposed people. We present a rare case of fulminant diabetes precipitated by anti-PD-1 immunotherapy. Case: A 61-year-old male with advanced melanoma presented with a three-day history of nausea, vomiting, and malaise...
2018: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/29622662/potential-genetic-polymorphisms-predicting-polycystic-ovary-syndrome
#20
Yao Chen, Shu-Ying Fang
Polycystic ovary syndrome (PCOS) is a heterogenous endocrine disorder with typical symptoms of oligomenorrhoea, hyperandrogenism, hirsutism, obesity, insulin resistance and increased risk of type 2 diabetes mellitus. Extensive evidence indicates that PCOS is a genetic disease and numerous biochemical pathways have been linked with its pathogenesis. A number of genes from these pathways have been investigated, which include those involved with steroid hormone biosynthesis and metabolism, action of gonadotropin and gonadal hormones, folliculogenesis, obesity and energy regulation, insulin secretion and action and many others...
April 5, 2018: Endocrine Connections
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