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diabetes genetics

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https://www.readbyqxmd.com/read/28088172/ecotilling-by-sequencing-reveals-polymorphisms-in-genes-encoding-starch-synthases-that-are-associated-with-low-glycemic-response-in-rice
#1
Ramadoss Bharathi Raja, Somanath Agasimani, Sarita Jaiswal, Venkatesan Thiruvengadam, Robin Sabariappan, Ravindra N Chibbar, Sundaram Ganesh Ram
BACKGROUND: Glycemic response, a trait that is tedious to be assayed in cereal staples, has been identified as a factor correlated with alarmingly increasing prevalence of Type II diabetes. Reverse genetics based discovery of allelic variants associated with this nutritional trait gains significance as they can provide scope for genetic improvement of this factor which is otherwise difficult to target through routine screening methods. RESULTS: Through EcoTILLING by sequencing in 512 rice accessions, we report the discovery of six deleterious variants in the genes with potential to increase Resistant Starch (RS) and reduce Hydrolysis Index (HI) of starch...
January 14, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28087565/perturbation-of-retinoid-homeostasis-increases-malformation-risk-in-embryos-exposed-to-pregestational-diabetes
#2
Leo M Y Lee, Maran B W Leung, Rachel C Y Kwok, Yun-Chung Leung, Chi-Chiu Wang, Peter J McCaffery, Andrew J Copp, Alisa S W Shum
Pregestational diabetes is highly associated with increased risk of birth defects. However, factors that can increase or reduce expressivity and penetrance of malformations in diabetic pregnancies remain poorly identified. All-trans retinoic acid (RA) plays crucial roles in embryogenesis. Here, we find that Cyp26a1, which encodes a key enzyme for catabolic inactivation of RA required for tight control of local RA concentrations, is significantly down-regulated in embryos of diabetic mice. Embryonic tissues expressing Cyp26a1 show reduced efficiency of RA clearance...
January 13, 2017: Diabetes
https://www.readbyqxmd.com/read/28081217/collective-genetic-interaction-effects-and-the-role-of-antigen-presenting-cells-in-autoimmune-diseases
#3
Hyung Jun Woo, Chenggang Yu, Jaques Reifman
Autoimmune diseases occur when immune cells fail to develop or lose their tolerance toward self and destroy body's own tissues. Both insufficient negative selection of self-reactive T cells and impaired development of regulatory T cells preventing effector cell activation are believed to contribute to autoimmunity. Genetic predispositions center around the major histocompatibility complex (MHC) class II loci involved in antigen presentation, the key determinant of CD4+ T cell activation. Recent studies suggested that variants in the MHC region also exhibit significant non-additive interaction effects...
2017: PloS One
https://www.readbyqxmd.com/read/28078446/detection-of-rage-expression-and-its-application-to-diabetic-wound-age-estimation
#4
Xin-Yi Ji, Yang Chen, Guang-Hua Ye, Miao-Wu Dong, Ke-Zhi Lin, Jun-Ge Han, Xiang-Ping Feng, Xing-Biao Li, Lin-Sheng Yu, Yan-Yan Fan
With the prevalence of diabetes, it is becoming important to analyze the diabetic wound age in forensic practice. The present study investigated the time-dependent expression of receptor for advanced glycation end products (RAGE) during diabetic wound healing in mice and its applicability to wound age determination by immunohistochemistry, double immunofluorescence, and Western blotting. After an incision was created in genetically diabetic db/db mice and control mice, mice were killed at posttraumatic intervals ranging from 6 h to 14 days, followed by the sampling of wound margin...
January 11, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28074382/engaging-hmong-adults-in-genomic%C3%A2-and%C3%A2-pharmacogenomic-research-toward-reducing-health-disparities-in-genomic-knowledge-using-a-community-based-participatory-research-approach
#5
Kathleen A Culhane-Pera, Robert J Straka, MaiKia Moua, Youssef Roman, Pachia Vue, Kang Xiaaj, May Xia Lo, Mai Lor
Advancing precision medicine relies in part on examining populations that may exhibit unique genetic variants that impact clinical outcomes. Failure to include diverse populations in genomic-based research represents a health disparity. We implemented a community-based participatory research (CBPR) process with the Hmong community in Minnesota, who were refugees from Laos, in order to assess the feasibility of conducting genomic and pharmacogenomic-based research for genetic variants that are relevant to the Hmong community...
January 10, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28073828/an-activating-mutation-in-stat3-results-in-neonatal-diabetes-through-reduced-insulin-synthesis
#6
Teresa Velayos, Rosa Martínez, Milagros Alonso, Koldo Garcia-Etxebarria, Anibal Aguayo, Cristina Camarero, Inés Urrutia, Idoia Martínez de LaPiscina, Raquel Barrio, Izortze Santin, Luis Castaño
Neonatal diabetes mellitus (NDM) is a rare form of diabetes diagnosed within the first six months of life. Genetic studies have allowed the identification of several genes linked to the development of NDM, however genetic causes for around 20% of the cases remain to be clarified.Most cases of NDM involve isolated diabetes, but sometimes it appears in association with other pathological conditions, including autoimmune diseases. Recent reports have linked activating mutations in STAT3 with early-onset autoimmune disorders that include diabetes of autoimmune origin, however the functional impact of STAT3 activating mutations have not been characterized at the pancreatic β cell level...
January 10, 2017: Diabetes
https://www.readbyqxmd.com/read/28073131/evaluation-of-glutathione-peroxidase-and-kcnj11-gene-polymorphisms-in-patients-with-new-onset-diabetes-mellitus-after-renal-transplantation
#7
Gulsah Y Yalin, Sebahat Akgul, Seher Tanrikulu, Sevim Purisa, Nurdan Gul, Ayse K Uzum, Fatma O Sarvan, Mehmet S Sever, Ilhan Satman
Introduction Genetic mutations such as C599T polymorphism in glutathione peroxidase [GPX1] gene and polymorphisms in potassium channel (KCNJ11) genes have recently been proposed in the etiopathogenesis of new onset diabetes mellitus after renal transplantation (NODAT). We aimed to examine the association of GPX1 and KCNJ11 polymorphisms in NODAT. Materials and Methods This is a monocenter case-control study with a total of 118 renal transplant recipients who were divided into 2 groups; NODAT and normal glucose tolerance...
January 10, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28072873/association-study-with-77-snps-confirms-the-robust-role-for-the-rs10830963-g-of-mtnr1b-variant-and-identifies-two-novel-associations-in-gestational-diabetes-mellitus-development
#8
Klara Rosta, Zahra Al-Aissa, Orsolya Hadarits, Jürgen Harreiter, Ákos Nádasdi, Fanni Kelemen, Dagmar Bancher-Todesca, Zsolt Komlósi, László Németh, János Rigó, István Sziller, Anikó Somogyi, Alexandra Kautzky-Willer, Gábor Firneisz
CONTEXT: Genetic variation in human maternal DNA contributes to the susceptibility for development of gestational diabetes mellitus (GDM). OBJECTIVE: We assessed 77 maternal single nucleotide gene polymorphisms (SNPs) for associations with GDM or plasma glucose levels at OGTT in pregnancy. METHODS: 960 pregnant women (after dropouts 820: case/control: m99'WHO: 303/517, IADPSG: 287/533) were enrolled in two countries into this case-control study...
2017: PloS One
https://www.readbyqxmd.com/read/28070563/gut-microbiome-of-the-canadian-arctic-inuit
#9
Catherine Girard, Nicolas Tromas, Marc Amyot, B Jesse Shapiro
Diet is a major determinant of community composition in the human gut microbiome, and "traditional" diets have been associated with distinct and highly diverse communities, compared to Western diets. However, most traditional diets studied have been those of agrarians and hunter-gatherers consuming fiber-rich diets. In contrast, the Inuit of the Canadian Arctic have been consuming a traditional diet low in carbohydrates and rich in animal fats and protein for thousands of years. We hypothesized that the Inuit diet and lifestyle would be associated with a distinct microbiome...
January 2017: MSphere
https://www.readbyqxmd.com/read/28069811/tgf-%C3%AE-1-smad3-pathway-targets-pp2a-ampk-foxo1-to-regulate-hepatic-gluconeogenesis
#10
Hariom Yadav, Samir Devalaraja, Stephanie Chung, Sushil G Rane
Maintenance of glucose homeostasis is essential for normal physiology. Deviation from normal glucose levels, in either direction, increases susceptibility to serious medical complications such as hypoglycemia or diabetes. Maintenance of glucose homeostasis is achieved via functional interactions amongst various organs, liver, skeletal muscle, adipose tissue, brain and the endocrine pancreas. The liver is the primary site for endogenous glucose production, especially during states of prolonged fasting. However, enhanced gluconeogenesis is also a signature feature of type 2 diabetes (T2D)...
January 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28068891/immunological-variation-due-to-genetics-of-inflammatory-snps-and-age-and-impact-on-disease-manifestation
#11
Gary R Burleson
The immune system is a critical component in defense against viral, bacterial, parasitic, and fungal diseases. Immunological mechanisms, including immunological mediators, innate immunity, cell-mediated immunity, and humoral-mediated immunity, serve to maintain homeostasis and protect the host from disease. Immunological variation can impact defense mechanisms, however. Two factors in particular that can influence immune function are the single nucleotide polymorphisms (SNPs) and aging. SNPs affecting inflammatory cytokines are an important modifier involved in a number of diseases such as asthma, periodontal disease, atherosclerosis, diabetic retinopathy, psoriasis, and osteoporosis...
January 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28067892/impact-of-type-1-diabetes-mellitus-and-celiac-disease-on-nutrition-and-quality-of-life
#12
J G Nunes-Silva, V S Nunes, R P Schwartz, S Mlss Trecco, D Evazian, M L Correa-Giannella, M Nery, M S Queiroz
OBJECTIVE: Type 1 diabetes mellitus (T1DM) and celiac disease (CD) are autoimmune diseases and have similar genetic patterns. T1DM treatment is based on diet, physical activity and insulin therapy, whereas CD depends on dietary changes with restriction of wheat, rye and barley. The aim of the study was to evaluate the quality of life (QoL) of individuals with the association of T1DM and CD, to characterize their nutritional status and to compare it with those with only one disease and healthier controls...
January 9, 2017: Nutrition & Diabetes
https://www.readbyqxmd.com/read/28067832/type-2-diabetes-susceptibility-in-the-greek-cypriot-population-replication-of-associations-with-tcf7l2-fto-hhex-slc30a8-and-igf2bp2-polymorphisms
#13
Christina Votsi, Costas Toufexis, Kyriaki Michailidou, Athos Antoniades, Nicos Skordis, Minas Karaolis, Constantinos S Pattichis, Kyproula Christodoulou
Type 2 diabetes (T2D) has been the subject of numerous genetic studies in recent years which revealed associations of the disease with a large number of susceptibility loci. We hereby initiate the evaluation of T2D susceptibility loci in the Greek-Cypriot population by performing a replication case-control study. One thousand and eighteen individuals (528 T2D patients, 490 controls) were genotyped at 21 T2D susceptibility loci, using the allelic discrimination method. Statistically significant associations of T2D with five of the tested single nucleotide polymorphisms (SNPs) (TCF7L2 rs7901695, FTO rs8050136, HHEX rs5015480, SLC30A8 rs13266634 and IGF2BP2 rs4402960) were observed in this study population...
January 6, 2017: Genes
https://www.readbyqxmd.com/read/28067471/traditional-and-novel-tools-to-probe-the-mitochondrial-metabolism-in-health-and-disease
#14
REVIEW
Yanfei Zhang, José L Avalos
Mitochondrial metabolism links energy production to other essential cellular processes such as signaling, cellular differentiation, and apoptosis. In addition to producing adenosine triphosphate (ATP) as an energy source, mitochondria are responsible for the synthesis of a myriad of important metabolites and cofactors such as tetrahydrofolate, α-ketoacids, steroids, aminolevulinic acid, biotin, lipoic acid, acetyl-CoA, iron-sulfur clusters, heme, and ubiquinone. Furthermore, mitochondria and their metabolism have been implicated in aging and several human diseases, including inherited mitochondrial disorders, cardiac dysfunction, heart failure, neurodegenerative diseases, diabetes, and cancer...
January 9, 2017: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
https://www.readbyqxmd.com/read/28067456/type-2-diabetes-mellitus-associated-with-the-interaction-of-lrp5-polymorphism-and-overweight-and-obesity-in-rural-chinese-adults
#15
Zhang Lu, Wang Jinjin, Zhang Ming, Wang Guo'an, Shen Yanxia, Wu Dongting, Wang Chongjian, Li Linlin, Ren Yongcheng, Wang Bingyuan, Zhang Hongyan, Yang Xiangyu, Zhao Yang, Han Chengyi, Zhou Junmei, Pang Chao, Yin Lei, Zhao Jingzhi, Luo Xinping, Hu Dongsheng
BACKGROUND: Low-density lipoprotein receptor-related protein 5 (LRP5) plays an important role in glucose and cholesterol metabolism, so a cohort study was used to evaluate the association of LRP5 variants and incidence of type 2 diabetes mellitus (T2DM) in a rural adult Chinese population. METHODS: A total of 7751 subjects ≥18 years old and without T2DM underwent genotyping at baseline; 6326 subjects (81.62%) were followed-up, with 5511 eligible for this analysis...
January 9, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28065514/review-of-childhood-obesity-from-epidemiology-etiology-and-comorbidities-to-clinical-assessment-and-treatment
#16
REVIEW
Seema Kumar, Aaron S Kelly
Childhood obesity has emerged as an important public health problem in the United States and other countries in the world. Currently 1 in 3 children in the United States is afflicted with overweight or obesity. The increasing prevalence of childhood obesity is associated with emergence of comorbidities previously considered to be "adult" diseases including type 2 diabetes mellitus, hypertension, nonalcoholic fatty liver disease, obstructive sleep apnea, and dyslipidemia. The most common cause of obesity in children is a positive energy balance due to caloric intake in excess of caloric expenditure combined with a genetic predisposition for weight gain...
January 5, 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28065481/differences-in-the-interaction-between-cetp-taq1b-polymorphism-and-dietary-fat-intake-on-lipid-profile-of-normolipedemic-and-dyslipidemic-patients-with-type-2-diabetes-mellitus
#17
Zahra Kalantar, Mohamad Reza Eshraghian, Gity Sotoudeh, Mahmoud Djalali, Anahita Mansouri, Ehsan Alvandi, Fatemeh Javadi, Maryam Mahmoudi, Fariba Koohdani
BACKGROUND & AIM: Dyslipidemia is one of the major complications in patients with type 2 diabetes mellitus (T2DM). Dietary fat intake and genetic factors including CETP Taq1B polymorphism could also affect lipid profile concentrations, in particular HDL-c. We decided to study the frequency of this polymorphism and its interaction with dietary fat intake on HDL-c concentration among Iranian T2DM patients with and without dyslipidemia. METHODS: In this comparative study, serum samples were collected from 55 patients with dyslipidemia and 129 patients without dyslipidemia...
December 31, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28065479/interaction-between-a-variant-of-cdkn2a-b-gene-with-lifestyle-factors-in-determining-dyslipidemia-and-estimated-cardiovascular-risk-a-step-toward-personalized-nutrition
#18
Mehrane Mehramiz, Faeze Ghasemi, Habibollah Esmaily, Maryam Tayefi, Seyed Mahdi Hassanian, Mahsa Sadeghzade, Fatemeh Sadabadi, Mohsen Moohebati, Mahmoud Reza Azarpazhooh, Seyed Mohammad Reza Parizadeh, Alireza Heidari-Bakavoli, Mohammad Safarian, Mohsen Nematy, Mahmoud Ebrahimi, Mikhail Ryzhikov, Gordon A Ferns, Majid Ghayour-Mobarhan, Amir Avan
BACKGROUND & AIMS: Several genome-wide-association-studies have identified genetic variants in a region on chromosome 9p21 that are associated with an increased risk of Cardiovascular disease (CVD) and diabetes. Here we have explored the interaction of a genetic variant of the CDKN2A/B-rs10811661 gene locus with cardiovascular risk factors and environmental-exposures (e.g., diet and physical activity) in 1165 individuals recruited from the Mashhad-Stroke and Heart-Atherosclerotic-Disorders cohort...
December 28, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28064215/pathophysiological-mechanisms-of-renal-fibrosis-a-review-of-animal-models-and-therapeutic-strategies
#19
REVIEW
António Nogueira, Maria João Pires, Paula Alexandra Oliveira
Chronic kidney disease (CKD) is a long-term condition in which the kidneys do not work correctly. It has a high prevalence and represents a serious hazard to human health and estimated to affects hundreds of millions of people. Diabetes and hypertension are the two principal causes of CKD. The progression of CKD is characterized by the loss of renal cells and their replacement by extracellular matrix (ECM), independently of the associated disease. Thus, one of the consequences of CKD is glomerulosclerosis and tubulointerstitial fibrosis caused by an imbalance between excessive synthesis and reduced breakdown of the ECM...
January 2017: In Vivo
https://www.readbyqxmd.com/read/28063875/clinical-worthlessness-of-genetic-prediction-of-common-forms-of-diabetes-mellitus-and-related-chronic-complications-a-position-statement-of-the-italian-society-of-diabetology
#20
REVIEW
R Buzzetti, S Prudente, M Copetti, M Dauriz, S Zampetti, M Garofolo, G Penno, V Trischitta
AIM: We are currently facing several attempts aimed at marketing genetic data for predicting multifactorial diseases, among which diabetes mellitus is one of the more prevalent. The present document primarily aims at providing to practicing physicians a summary of available data regarding the role of genetic information in predicting diabetes and its chronic complications. DATA SYNTHESIS: Firstly, general information about characteristics and performance of risk prediction tools will be presented in order to help clinicians to get acquainted with basic methodological information related to the subject at issue...
August 26, 2016: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
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