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https://www.readbyqxmd.com/read/28453780/variation-in-maturity-onset-diabetes-of-the-young-genes-influence-response-to-interventions-for-diabetes-prevention
#1
Liana K Billings, Kathleen A Jablonski, A Sofia Warner, Yu-Chien Cheng, Jarred B McAteer, Laura Tipton, Alan R Shuldiner, David A Ehrmann, Alisa K Manning, Dana Dabelea, Paul W Franks, Steven E Kahn, Toni I Pollin, William C Knowler, David Altshuler, Jose C Florez
CONTEXT: Variation in genes that cause Maturity-Onset Diabetes of the Young (MODY) has been associated with diabetes incidence and glycemic traits. OBJECTIVES: This study aimed to determine whether genetic variation in MODY genes leads to differential responses to insulin-sensitizing interventions. DESIGN AND SETTING: This was a secondary analysis of a multicenter randomized clinical trial, the Diabetes Prevention Program (DPP), involving 27 U...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28449408/prediabetes-is-associated-with%C3%A2-genetic-variations-in-the-kir6-2-subunit%C3%A2-kcnj11-%C3%A2-of-pancreatic-atp-sensitive-potassium-channel-gene-a-case-control-study-in-youth-han-chinese-population
#2
Min Xu, Honglin Hu, Datong Deng, Mingwei Chen, Zhenshan Xu, Youmin Wang
BACKGROUND: E23K variant of the KCNJ11 has been reported to be associated with type 2 diabetes in multiple populations. However, little is known about the role of E23K polymorphism of the KCNJ11 in the development of prediabetes in youth in China. METHODS: To this end, we recruited 279 subjects with prediabetes and 240 normal controls. RESULTS: We found that prediabetic Chinese youth exhibited higher carrier rate of K23-allele-containing genotypes than control subjects (p = 0...
April 27, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28447667/tweak-blockade-decreases-atherosclerotic-lesion-size-and-progression-through-suppression-of-stat1-signaling-in-diabetic-mice
#3
Valvanera Fernández-Laso, Cristina Sastre, Nerea Méndez-Barbero, Jesús Egido, Jose L Martín-Ventura, Carmen Gómez-Guerrero, Luis M Blanco-Colio
Tumor necrosis factor-like weak inducer of apoptosis (TWEAK/Tnfsf12) is a cytokine implicated in different steps associated with vascular remodeling. However, the role of TWEAK under hyperglycemic conditions is currently unknown. Using two different approaches, genetic deletion of Tnfsf12 and treatment with a TWEAK blocking mAb, we have analyzed the effect of TWEAK inhibition on atherosclerotic plaque progression and stability in streptozotocin-induced diabetic ApoE deficient mice. Genetic inactivation of Tnfsf12 reduced atherosclerosis extension and severity in diabetic ApoE deficient mice...
April 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28447626/familial-hyperaldosteronism-type-iii
#4
REVIEW
S Monticone, M Tetti, J Burrello, F Buffolo, R De Giovanni, F Veglio, T A Williams, P Mulatero
Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. FH-III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4 (also called GIRK4). These mutations alter the selectivity filter of the channel and lead to abnormal ion currents with loss of potassium selectivity, sodium influx and consequent increased intracellular calcium that causes excessive aldosterone biosynthesis...
April 27, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28447578/proprotein-convertase-subtilisin-kexin-type-9-affects-insulin-but-not-lipid-metabolism-in-cystic-fibrosis
#5
Adèle Coriati, Elizabeth Arslanian, Guillaume F Bouvet, Annik Prat, Nabil G Seidah, Rémi Rabasa-Lhoret, Yves Berthiaume
PURPOSE: Cystic Fibrosis (CF) is the most common genetic disorder and, with improved survival, glucose abnormalities have emerged as a major comorbidity. Proprotein convertase subtilisin/kexin type 9 (PCSK9), a regulator of plasma LDL-cholesterol homeostasis, is associated with lipid and glucose metabolism in healthy individuals. Here we report on the link between PCSK9 and markers of metabolism in CF. METHODS: Cross-sectional analysis was performed on CF patients (≥ 18 years, N=94) from the Montreal Cohort, without known diabetes, and on healthy individuals (N=19)...
April 26, 2017: Clinical and Investigative Medicine. Médecine Clinique et Experimentale
https://www.readbyqxmd.com/read/28447115/human-genetics-as-a-model-for-target-validation-finding-new-therapies-for-diabetes
#6
REVIEW
Soren K Thomsen, Anna L Gloyn
Type 2 diabetes is a global epidemic with major effects on healthcare expenditure and quality of life. Currently available treatments are inadequate for the prevention of comorbidities, yet progress towards new therapies remains slow. A major barrier is the insufficiency of traditional preclinical models for predicting drug efficacy and safety. Human genetics offers a complementary model to assess causal mechanisms for target validation. Genetic perturbations are 'experiments of nature' that provide a uniquely relevant window into the long-term effects of modulating specific targets...
April 26, 2017: Diabetologia
https://www.readbyqxmd.com/read/28446459/distinct-roles-of-arginases-1-and-2-in-diabetic-nephropathy
#7
Sidney M Morris, Hanning You, Ting Gao, Jean Vacher, Timothy K Cooper, Alaa S Awad
Diabetes is the leading cause of end stage renal disease, resulting in a significant health care burden and loss of economic productivity by affected individuals. As current therapies for progression of diabetic nephropathy (DN) are only moderately successful, identification of underlying mechanisms of disease is essential in order to develop more effective therapies. We showed previously that inhibition of arginase using S-(2-boronoethyl)-L-cysteine (BEC) or genetic deficiency of the arginase-2 isozyme was protective against key features of nephropathy in diabetic mouse models...
April 26, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28446151/novel-mutation-in-the-slc12a3-gene-in-a-sri-lankan-family-with-gitelman-syndrome-coexistent-diabetes-a-case-report
#8
Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake
BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney. CASE PRESENTATION: In this report, we describe two siblings from a Sri Lankan non-consanguineous family presenting with hypokalaemia associated with renal potassium wasting, hypomagnesemia, hypocalciuria and hypereninemic hyperaldosteronism with normal blood pressure...
April 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28444665/genetic-polymorphisms-of-antioxidant-and-antiglycation-enzymes-and-diabetic-complications-how-much-can-we-learn-from-the-genes
#9
Dimitrios Oikonomou, Jan Benedikt Groener, Ruan Cheko, Zoltan Kender, Lars Kihm, Thomas Fleming, Stefan Kopf, Peter P Nawroth
There is growing evidence that reactive metabolites, such as reactive oxygen species and dicarbonyls contribute to diabetic complications. Formation, accumulation, and detoxification of these metabolites are controlled by several enzymes, some of which have genetically determined levels of expression or function. This review not only gives an overview of the different SNPs studied in patients with diabetes mellitus type 1 and type 2, but in addition attempts to bridge the gap between a genetic study and clinical use...
April 25, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28444661/influence-of-the-slco1b3-gene-on-sulfonylurea-failure-in-patients-with-type-2-diabetes-in-china
#10
Qian Ren, Xueyao Han, Jin Ren, Xinyu Liu, Linong Ji
Sulfonylureas are widely used class of drugs for the treatment of type 2 diabetes (T2DM). Recent research has demonstrated that SLCO1B3 functions as a determinant of the insulinotropic effect of glibenclamide at the tissue level. However, whether this gene can influence the efficacy of glibenclamide in type 2 diabetic patients is not currently well-understood. All of our study subjects were enrolled from the Xiaoke Pills Clinical Trial. The subjects were treated with glibenclamide, and followed for 48 weeks...
April 25, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28443701/evaluation-of-dietary-intake-leisure-time-physical-activity-and-metabolic-profile-in-women-with-mutation-in-the-lmna-gene
#11
Luciana Monteiro, Maria Cristina Foss-Freitas, Anderson Navarro, Francisco Pereira, Fernanda Coeli, Estela Carneseca, Renan Montenegro Júnior, Milton Foss
INTRODUCTION: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat, which is associated with insulin-resistant diabetes. The Dunnigan variety (FPLD2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. OBJECTIVE: The aim of this study was to assess and compare the dietary intake, leisure-time physical activity (LTPA), and biochemical measurements (glucose, A1C, and plasma lipids) in women with FPLD2 and without (control group, CG) and to examine the associations between dietary intake and biochemical measurements (BM)...
April 26, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28441146/epigenetic-regulation-of-glucose-metabolism
#12
Sapna Sharma, Jennifer Kriebel, Harald Grallert
PURPOSE OF REVIEW: Glucose metabolism is a central process in mammalian energy homeostasis. Its deregulation is a key factor in development of metabolic disease like diabetes and cancer. In recent decades, our understanding of gene regulation at the signaling, chromatin and posttranscriptional levels has seen dramatic developments. RECENT FINDINGS: A number of epigenetic mechanisms that do not affect the genetic code can be assessed with new technologies. However, increasing complexity becomes a major challenge for translation into clinical application...
April 24, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/28440753/is-hla-the-cause-of-the-high-incidence-of-type-1-diabetes-in-the-canary-islands-results-from-the-type-1-diabetes-genetics-consortium-t1dgc
#13
Angelo Santana Del Pino, Nathan Medina-Rodríguez, Marta Hernández-García, Francisco J Nóvoa-Mogollón, Ana M Wägner
INTRODUCTION: Incidence of childhood-onset type 1 diabetes mellitus in the Canary Islands is the highest reported so far in Spain, and among the highest worldwide. The HLA region accounts for approximately half the genetic risk of type 1 diabetes. Our aim was to assess distribution of high-risk and protective HLA haplotypes in the Canarian families included in the T1DGC, as compared to the rest of Spain. METHODS: The T1DGC study, an international project to study the genetics and pathogenesis of type 1 diabetes, enrolled more than 3000 families with type 1 diabetes worldwide...
March 2017: Endocrinol Diabetes Nutr
https://www.readbyqxmd.com/read/28440247/circulating-biomarkers-in-glaucoma-age-related-macular-degeneration-and-diabetic-retinopathy
#14
Madhu Nath, Nabanita Halder, Thirumurthy Velpandian
Biomarkers to predict the altering physiological conditions over the period leading toward the ocular disorders are of major importance in therapeutics. Isolation and validation of the biomarkers specific to ocular diseases are a challenging task. Glaucoma is a neurodegenerative disease of the eye where the correlation of biomarkers in circulating fluid may be made specific for the eye. However, conditions such as wet age-related macular degeneration (AMD) and proliferative diabetic retinopathy (DR), circulating biomarkers might be having some degree of overlap with other conditions like cancer where a common factor such as angiogenesis is involved...
March 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28439323/caudal-regression-syndrome-a-case-series-of-a-rare-congenital-anomaly
#15
Yogesh Kumar, Nishant Gupta, Kusum Hooda, Pranav Sharma, Salil Sharma, Puneet Kochar, Daichi Hayashi
BACKGROUND: Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28439258/diabetic-cardiomyopathy-an-immunometabolic-perspective
#16
REVIEW
Paras K Mishra, Wei Ying, Shyam Sundar Nandi, Gautam K Bandyopadhyay, Kaushik K Patel, Sushil K Mahata
The heart possesses a remarkable inherent capability to adapt itself to a wide array of genetic and extrinsic factors to maintain contractile function. Failure to sustain its compensatory responses results in cardiac dysfunction, leading to cardiomyopathy. Diabetic cardiomyopathy (DCM) is characterized by left ventricular hypertrophy and reduced diastolic function, with or without concurrent systolic dysfunction in the absence of hypertension and coronary artery disease. Changes in substrate metabolism, oxidative stress, endoplasmic reticulum stress, formation of extracellular matrix proteins, and advanced glycation end products constitute the early stage in DCM...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28439216/pediatric-obesity-and-cardiometabolic-disorders-risk-factors-and-biomarkers
#17
E Levy, A K Saenger, M W Steffes, E Delvin
Obesity remains the most prevailing disorder in childhood males and females worldwide. Its high prevalence markedly predisposes children to insulin resistance, hypertension, hyperlipidemia and liver disorders while enhancing the risk of type 2 diabetes and cardiovascular diseases. In this review, the relationship of obesity with genetic and environmental factors will be described and the underlined causes will briefly be reported. As obesity in children constitutes an increasingly health concern, important potential biomarkers have been discussed for the diagnosis, treatment and follow-up of the wide range of overweight-related complications...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28438610/hyperglycemia-increases-interstitial-cells-of-cajal-via-mapk1-and-mapk3-signaling-to-etv1-and-kit-leading-to-rapid-gastric-emptying
#18
Yujiro Hayashi, Yoshitaka Toyomasu, Siva Arumugam Saravanaperumal, Michael R Bardsley, John A Smestad, Andrea Lorincz, Seth T Eisenman, Gianluca Cipriani, Molly H Nelson Holte, Fatimah J Al Khazal, Sabriya A Syed, Gabriella B Gajdos, Kyoung Moo Choi, Gary J Stoltz, Katie E Miller, Michael L Kendrick, Brian P Rubin, Simon J Gibbons, Adil E Bharucha, David R Linden, Louis James Maher, Gianrico Farrugia, Tamas Ordog
BACKGROUND & AIMS: Depletion of interstitial cells of Cajal (ICCs) is common in diabetic gastroparesis. However, in approximately 20% of patients with diabetes, gastric emptying (GE) is accelerated. GE is also faster in obese individuals, and is associated with increased blood levels of glucose in patients with type 2 diabetes. To understand the fate of ICCs in hyperinsulinemic, hyperglycemic states characterized by rapid GE, we studied mice with mutation of the leptin receptor (Lepr(db/db)), which in our colony had accelerated GE...
April 21, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28438156/relative-contribution-of-type-1-and-type-2-diabetes-loci-to-the-genetic-etiology-of-adult-onset-non-insulin-requiring-autoimmune-diabetes
#19
Rajashree Mishra, Alessandra Chesi, Diana L Cousminer, Mohammad I Hawa, Jonathan P Bradfield, Kenyaita M Hodge, Vanessa C Guy, Hakon Hakonarson, Didac Mauricio, Nanette C Schloot, Knud B Yderstræde, Benjamin F Voight, Stanley Schwartz, Bernhard O Boehm, Richard David Leslie, Struan F A Grant
BACKGROUND: In adulthood, autoimmune diabetes can present as non-insulin-requiring diabetes, termed as 'latent autoimmune diabetes in adults' (LADA). In this study, we investigated established type 1 diabetes (T1D) and type 2 diabetes (T2D) genetic loci in a large cohort of LADA cases to assess where LADA is situated relative to these two well-characterized, classic forms of diabetes. METHODS: We tested the association of T1D and T2D GWAS-implicated loci in 978 LADA cases and 1057 non-diabetic controls of European ancestry using a linear mixed model...
April 25, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28437656/a-gene-environment-interaction-analysis-of-plasma-selenium-with-prevalent-and-incident-diabetes-the-hortega-study
#20
Inmaculada Galan-Chilet, Maria Grau-Perez, Griselda De Marco, Eliseo Guallar, Juan Carlos Martin-Escudero, Alejandro Dominguez-Lucas, Isabel Gonzalez-Manzano, Raul Lopez-Izquierdo, Laisa Socorro Briongos-Figuero, Josep Redon, Felipe Javier Chaves, Maria Tellez-Plaza
BACKGROUND: Selenium and single-nucleotide-polymorphisms in selenoprotein genes have been associated to diabetes. However, the interaction of selenium with genetic variation in diabetes and oxidative stress-related genes has not been evaluated as a potential determinant of diabetes risk. METHODS: We evaluated the cross-sectional and prospective associations of plasma selenium concentrations with type 2 diabetes, and the interaction of selenium concentrations with genetic variation in candidate polymorphisms, in a representative sample of 1452 men and women aged 18-85 years from Spain...
April 14, 2017: Redox Biology
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