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diabetes genetics

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https://www.readbyqxmd.com/read/28811939/abo-gene-polymorphism-and-thrombomodulin-33g-a-polymorphism-were-not-risk-factors-for-myocardial-infarction-in-javanese-men
#1
Mifetika Lukitasari, Ahmad Hamim Sadewa, Mohammad Saifur Rohman
Genetic factors contribute to about a half of coronary artery diseases. During the last several decades, some studies suggested that non-O blood group and thrombomodulin polymorphism -33G>A are the risk factors of coronary artery disease especially in Asia. There was no prior study in Indonesia regarding this issue. Hence, this study was designed to investigate the correlation of ABO polymorphism and thrombomodulin polymorphism -33G>A with the incidence of acute myocardial infarction (AMI). A total of 192 subjects were enrolled in this case control study...
2017: International Journal of Vascular Medicine
https://www.readbyqxmd.com/read/28811861/importance-of-distinguishing-between-mitochondrial-encephalomyopathy-with-elderly-onset-of-stroke-like-episodes-and-cerebral-infarction
#2
Syuichi Tetsuka, Asako Tagawa, Tomoko Ogawa, Mieko Otsuka, Ritsuo Hashimoto, Hiroyuki Kato
The most common disease-causing mitochondrial DNA (mtDNA) mutation in mitochondrial encephalomyopathy (ME) with lactic acidosis and stroke-like episodes (MELAS) is m.3243A>G. In the future, the incidence of patients with cerebral infarction and diabetes mellitus is expected to increase tremendously. Additionally, the A3243G mutation typical of diabetes is estimated to be present in approximately 2% of all diabetes patients, which suggests that the potential disease population with a mitochondrial disorder is greater than previously thought, and there may have been many cases among the elderly that were misdiagnosed...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28811618/assessment-of-the-role-of-ageing-and-non-ageing-factors-in-death-from-non-communicable-diseases-based-on-a-cumulative-frequency-model
#3
Liu Hui
To quantify the effects of ageing and non-ageing factors, a characterization of the effects of ageing, genetic, and exogenous variables on 12 major non-communicable diseases was evaluated using a model assessing cumulative frequency of death and survival by age group from dead and surviving populations based on mortality statistics. Indices (0-1) of the roles of ageing (ARD), genetics (GRD) and exogenous (ERD) variables in deaths due to disease were established, and the sum of ARD, GRD and ERD was 1 (value of each indices was <1)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811597/vitamin-d-receptor-gene-polymorphisms-modify-cardiometabolic-response-to-vitamin-d-supplementation-in-t2dm-patients
#4
Nasser M Al-Daghri, Abdul Khader Mohammed, Omar S Al-Attas, Mohammed Ghouse Ahmed Ansari, Kaiser Wani, Syed D Hussain, Shaun Sabico, Gyanendra Tripathi, Majed S Alokail
There is conflicting evidence on the favorable effects of vitamin D supplementation on metabolic profile in Type 2 diabetes mellitus (T2DM) patients and this might be due to genetic variations in vitamin D receptors (VDRs). Thus, we studied the metabolic effects of a 12-month vitamin D supplementation in T2DM patients according to VDR polymorphisms. A total of 204 T2DM subjects received 2000 IU vitamin D3 daily for 12 months. Serum 25(OH)D and metabolic profiles were measured at baseline and after 12 months...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811499/the-role-of-dermcidin-isoform-2-in-the-occurrence-and-severity-of-diabetes
#5
Suman Bhattacharya, Md Mobidullah Khan, Chandradipa Ghosh, Sarbashri Bank, Smarajit Maiti
Diabetes is now epidemic worldwide. Several hundred-million peoples are presently suffering from this disease with other secondary-disorders. Stress, hypertension, sedentary life-style, carbohydrate/lipid metabolic-disorders due to genetic or environmental factors attributes to type-1 and/or type-2 diabetes. Present investigation demonstrates that stress-induced protein dermcidin isoform-2 (DCN-2) which appears in the serum of diabetic-patients play a key-role in this disease pathogenesis/severity. DCN-2 suppresses insulin production-release from liver/pancreas...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811268/antecedent-adhd-dementia-and-metabolic-dysregulation-a-u-s-based-cohort-analysis
#6
Keith Fluegge, Kyle Fluegge
INTRODUCTION: Epidemiological and genetic studies have reported a link between antecedent ADHD and dementia. The underpinning mechanisms of these associations are not known and have generated considerable speculation. METHODS: We have extracted hospitalization discharge data on dementia and ADHD (representing a severe phenotype) from the Healthcare Cost and Utilization Project (HCUPnet) and utilized a Poisson regression with two-ways fixed effects to investigate this association...
August 12, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28808665/hla-class-ii-allele-haplotype-and-genotype-associations-with-type-1-diabetes-in-benin-a-pilot-study
#7
Kaossarath A Fagbemi, Thierry C Marc Medehouenou, Simon Azonbakin, Marius Adjagba, Razack Osseni, Jocelyne Ahoueya, Arnaud Agbanlinsou, Raphael Darboux, Lamine Baba-Moussa, Anatole Laleye
BACKGROUND: Several studies have reported the implication of HLA-DR/DQ loci in the susceptibility to type 1 diabetes (T1D). Since no such study has yet been performed in Benin, this pilot one aimed at assessing HLA class II allele, haplotype, and genotype associations with T1D. MATERIAL AND METHODS: Class II HLA genotyping was performed in 51 patients with T1D and 51 healthy unrelated controls by means of the PCR-SSP method. The diagnosis of T1D was set up according to American Diabetes Association criteria...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28806535/interactions-between-genetic-polymorphisms-of-glucose-metabolizing-genes-and-smoking-and-alcohol-consumption-in-the-risk-of-type-2-diabetes-mellitus
#8
Kaiping Gao, Yongcheng Ren, Jinjin Wang, Zichen Liu, Jianna Li, Linlin Li, Bingyuan Wang, Hong Li, Yaxi Wang, Yunkai Cao, Kinji Ohno, Rihong Zhai, Zhen Liang
The impact of gene-environment interaction on diabetes remains largely unknown. We aimed to investigate whether interaction between glucose metabolizing genes and lifestyle factors are associated with type 2 diabetes mellitus (T2DM). METHODS- Interactions between genotypes of 4 glucose metabolizing genes (MTNR1B, KCNQ1, KLF14, and GCKR) and lifestyle factors were estimated in 722 T2DM patients and 759 controls, using multiple logistic regression. RESULTS- No significant associations with T2DM were detected for the SNPs of MTNR1B, KLF14 and GCKR...
August 14, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28804631/the-influence-of-d-chiro-inositol-and-d-myo-inositol-in-pregnant-women-with-glucose-intolerance
#9
Domenico Dell'Edera, Francesca Sarlo, Arianna Allegretti, Francesca Simone, Maria Giovanna Lupo, Annunziata Anna Epifania
The aim of the present study was to demonstrate that the use of inositol and folic acid from the first trimester of pregnancy, counteracts the onset of gestational diabetes mellitus (GDM) in women at risk, preserving the infants from macrosomia, hypoglycemia and preterm delivery. The authors collected data from the pregnant women at the laboratory (Unit of Cytogenic and Molecular Genetics), from January 2014 to April 2016, all with first trimester fasting plasma glucose (FPG) >92 mg/dl. A total of 40 women were treated with 250 mg/day D-chiro-inositol, 1...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28804483/the-impact-of-western-diet-and-nutrients-on-the-microbiota-and-immune-response-at-mucosal-interfaces
#10
REVIEW
Donjete Statovci, Mònica Aguilera, John MacSharry, Silvia Melgar
Recent findings point toward diet having a major impact on human health. Diets can either affect the gut microbiota resulting in alterations in the host's physiological responses or by directly targeting the host response. The microbial community in the mammalian gut is a complex and dynamic system crucial for the development and maturation of both systemic and mucosal immune responses. Therefore, the complex interaction between available nutrients, the microbiota, and the immune system are central regulators in maintaining homeostasis and fighting against invading pathogens at mucosal sites...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28803747/novel-heterozygous-mutations-of-the-insr-gene-in-a-familial-case-of-donohue-syndrome
#11
Litao Qin, Xiaobo Li, Qiaofang Hou, Hongdan Wang, Guiyu Lou, Tao Li, Li Wang, Hongyan Liu, Xichuan Li, Shixiu Liao
Donohue syndrome (DS), a rare autosomal recessive disease which represents severe insulin resistance, pre- and postnatal growth retardation, hypertrichosis, and dysmorphic features, is caused by mutations in the insulin receptor (INSR) gene. Here, we have reported the clinical, molecular, and biochemical characterizations of a patient with DS. In this article, we have also reported a case with 2 novel INSR mutations and the DS phenotype. Using next-generation sequencing (NGS), we screened 27 known genes involved in inherited maturity-onset diabetes of the young (MODY) and identified compound heterozygous mutations in the INSR gene in the patient with DS, c...
August 10, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28801532/activation-of-nkx2-5-calr-p53-signaling-pathway-by-hyperglycemia-induces-cardiac-remodeling-and-dysfunction-in-adult-zebrafish
#12
Sun Yanyi, Wang Qiuyun, Fang Yuehua, Wu Chunfang, Lu Guoping, Chen Zhenyue
Hyperglycemia is an independent risk factor for diabetic cardiomyopathy in humans; however, the underlying mechanisms have not been thoroughly elucidated. Zebrafish (Danio rerio) was used in this study as a novel vertebrate model to explore the signaling pathways of human adult cardiomyopathy. Hyperglycemia was induced by alternately immersing adult zebrafish in a glucose solution or water. The hyperglycemic fish gradually exhibited some hallmarks of cardiomyopathy such as myocardial hypertrophy and apoptosis, myofibril loss, fetal gene reactivation, and severe arrhythmia...
August 11, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28799434/metabolic-biomarkers-and-gallstone-disease-a-population-based-study
#13
Daniel Mønsted Shabanzadeh, Tea Skaaby, Lars Tue Sørensen, Jesper Eugen-Olsen, Torben Jørgensen
OBJECTIVES: The objectives for this study were to examine the associations between metabolic biomarkers of obesity including insulin resistance, vascular dysfunction, systemic inflammation, genetic susceptibility and ultrasound proven gallstone disease or cholecystectomy in a population-based cross-sectional study. MATERIAL AND METHODS: A total of 2650 participants were included, of whom 422 had gallstone disease. Associations between selected metabolic biomarkers and gallstone disease were estimated by multivariable logistic regression models and expressed as odds ratio (OR) and 95% confidence interval (CI)...
August 11, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28799326/glp-1-conjugated-to-rhsa-variants-with-modified-fcrn-binding-properties-impact-on-molecular-structure-and-half-life
#14
Jens Thostrup Bukrinski, Pernille Sønderby, Filipa Antunes, Birgitte Andersen, Esben Gjerloeff Wedebye Schmidt, Guenther H H J Peters, Pernille Harris
Glucagon-like peptide 1 (GLP-1) is a small incretin hormone stimulated by food intake, resulting in an amplification of the insulin response. Though interesting as a drug candidate for the treatment of type 2 diabetes mellitus, its short plasma half-life of less than 3 minutes limits its clinical use. A strategy to extend the half-life of GLP-1 utilizes the long half-life of human serum albumin (HSA) by combining the two via chemical conjugation or genetic fusion. HSA has a plasma half-life of around 21 days owing to its interaction with the neonatal Fc receptor (FcRn) expressed in endothelial cells of blood vessels, which rescues circulating HSA from lysosomal degradation...
August 11, 2017: Biochemistry
https://www.readbyqxmd.com/read/28798540/growth-differentiation-factor-15-may-predict-mortality-of-peripheral-and-coronary-artery-diseases-and-correlate-with-their-risk-factors
#15
Lung-An Hsu, Semon Wu, Jyh-Ming Jimmy Juang, Fu-Tien Chiang, Ming-Sheng Teng, Jeng-Feng Lin, Hsuan-Li Huang, Yu-Lin Ko
Plasma GDF15 concentrations were measured in 612 Taiwanese individuals without overt systemic disease. Clinical parameters, GDF15 genetic variants, and 22 biomarker levels were analyzed. We further enrolled 86 patients with PAD and 481 patients with CAD, who received endovascular intervention and coronary angiography, respectively, to examine the role of GDF15 level in predicting all-cause mortality. Significant associations were found between GDF15 genotypes/haplotypes and GDF15 levels. The circulating GDF15 level was positively associated with age, smoking, hypertension, and diabetes mellitus as well as circulating levels of lipocalin 2 and various biomarkers of inflammation and oxidative stress...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28797215/the-cadm2-gene-is-associated-with-processing-speed-performance-evidence-among-elderly-with-type-2-diabetes
#16
Lior Greenbaum, Ramit Ravona-Springer, Abigail Livny, Shahar Shelly, Inbal Sharvit-Ginon, Ithamar Ganmore, Anna Alkelai, Anthony Heymann, Michal Schnaider Beeri
OBJECTIVES: Recent large scale meta-analysis of genome wide association studies (GWAS) from multiple cohorts, demonstrated the association of the single nucleotide polymorphism (SNP) rs17518584, with processing speed (measured by the Digit Symbol Substitution Task (DSST) or the Letter Digit Substitution Test (LDST)), at GWAS significance level. This SNP is located within the cell adhesion molecule 2 (CADM2) gene. We aimed to validate this finding in our sample of 944 cognitively normal Jewish elderly individuals with type 2 diabetes (T2D), a population which is at risk for cognitive decline and dementia...
August 11, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28795391/uncommon-cause-of-cirrhosis-a-case-of-werner-syndrome-with-a-novel-wrn-mutation
#17
S Deepak Amalnath, Forough Sargolzaeiaval, Junko Oshima, Dipti Baskar
Werner syndrome is a rare progeroid syndrome caused by the WRN gene mutation. It is characterized by a general appearance of premature aging, diabetes mellitus, and atherosclerosis, and an increased risk of malignancies. We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome. Further genetic analysis showed a novel mutation in the WRN gene which has not previously been reported. Werner syndrome should be considered for the cases of liver cirrhosis when accompanied by the features of accelerated aging...
August 9, 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/28794505/differential-transcriptome-of-tolerogenic-versus-inflammatory-dendritic-cells-points-to-modulated-t1d-genetic-risk-and-enriched-immune-regulation
#18
T Nikolic, N J C Woittiez, A van der Slik, S Laban, A Joosten, C Gysemans, C Mathieu, J J Zwaginga, B Koeleman, B O Roep
Tolerogenic dendritic cells (tolDCs) are assessed as immunomodulatory adjuvants to regulate autoimmunity. The underlying gene expression endorsing their regulatory features remains ill-defined. Using deep mRNA sequencing, we compared transcriptomes of 1,25-dihydroxyvitaminD3/dexametasone-modulated tolDCs with that of non-modulated mature inflammatory DCs (mDCs). Differentially expressed genes controlled cellular interactions, metabolic pathways and endorse tolDCs with the capacity to regulate cell activation through nutrient and signal deprivation, collectively gearing tolDCs into tolerogenic immune regulators...
August 10, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28792859/elucidating-the-role-of-plexin-d1-in-body-fat-distribution-and-susceptibility-to-metabolic-disease-using-a-zebrafish-model-system
#19
James E N Minchin, John F Rawls
Non-communicable diseases (NCDs) such as cardiovascular disease, diabetes and cancer were responsible for 68% of all deaths worldwide in 2012. The regional distribution of lipid deposited within adipose tissue (AT) - so called body fat distribution (BFD) - is a strong risk factor for NCDs. BFD is highly heritable; however, the genetic basis of BFD is almost entirely unknown. Genome-wide association studies have identified several loci associated with BFD, including at Plexin D1 (PLXND1) - a gene known to modulate angiogenesis...
July 27, 2017: Adipocyte
https://www.readbyqxmd.com/read/28792638/transmission-of-type-2-diabetes-to-sons-and-daughters-the-d-e-s-i-r-cohort
#20
B Balkau, R Roussel, S Wagner, J Tichet, P Froguel, G Fagherazzi, F Bonnet
AIMS: To document the family transmission of Type 2 diabetes to men and women. METHOD: The French D.E.S.I.R. cohort followed men and women over 9 years, with 3-yearly testing for incident Type 2 diabetes. First- and/or second-degree family histories of diabetes were available for 2187 men and 2282 women. Age-adjusted hazard ratios were estimated for various family members and groupings of family members, as well as for a genetic diabetes risk score, based on 65 diabetes-associated loci...
August 9, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
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