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diabetes genetics

Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Akihiko Taguchi, Yasuharu Ohta, Yukio Tanizawa
Type 2 diabetes mellitus is characterized by the loss of ß-cell function and mass, resulting from interactions between genetic predisposition and various environmental factors1 . One environmental condition identified as a risk factor for type 2 diabetes mellitus is circadian rhythm disruption, which is induced by shift work or sleep disturbance. However, the mechanism whereby circadian disruption leads to impaired glucose metabolism is not well understood. This article is protected by copyright. All rights reserved...
March 15, 2018: Journal of Diabetes Investigation
Francesco Caso, Marco Tasso, Pasquale Ambrosino, Matteo Nicola, Dario Di Minno, Roberta Lupoli, Livio Criscuolo, Paolo Caso, Francesco Ursini, Antonio Del Puente, Raffaele Scarpa, Luisa Costa, Rosario Peluso
BACKGROUND: Psoriatic arthritis is a chronic inflammatory arthropathy that affects 14%-30% of patients with skin and/or nail psoriasis and leading to severe physical limitations and disability. It has been included in the group of spondyloarthropathy with which it shares clinical, radiologic, and serologic features in addition to familial and genetic relationship. Beyond skin and joint involvement, psoriatic arthritis is characterized by a high prevalence of extra-articular manifestation and comorbidities, such as autoimmune, infectious and neoplastic diseases...
March 13, 2018: Reviews on Recent Clinical Trials
Daniel J Perry, Clive H Wasserfall, Richard A Oram, MacKenzie D Williams, Amanda Posgai, Andrew B Muir, Michael J Haller, Desmond A Schatz, Mark A Wallet, Clayton E Mathews, Mark A Atkinson, Todd M Brusko
Prior studies identified HLA class-II and 57 additional loci as contributors to genetic susceptibility for type 1 diabetes (T1D). We hypothesized that race and/or ethnicity would be contextually important for evaluating genetic risk markers previously identified from Caucasian/European cohorts. We determined the capacity for a combined genetic risk score (GRS) to discriminate disease-risk subgroups in a racially and ethnically diverse cohort from the southeastern U.S. including 637 T1D patients, 46 at-risk relatives having two or more T1D-related autoantibodies (≥2AAb+ ), 790 first-degree relatives (≤1AAb+ ), 68 second-degree relatives (≤1 AAb+ ), and 405 controls...
March 14, 2018: Scientific Reports
Michelle Chang, Lin He, Lei Cai
Genome-wide association study (GWAS) is a powerful study design to identify genetic variants of a trait and, in particular, detect the association between common single-nucleotide polymorphisms (SNPs) and common human diseases such as heart disease, inflammatory bowel disease, type 2 diabetes, and psychiatric disorders. The standard strategy of population-based case-control studies for GWAS is illustrated in this chapter. We provide an overview of the concepts underlying GWAS, as well as provide guidelines for statistical methods performed in GWAS...
2018: Methods in Molecular Biology
Felix Stickel, Stephan Buch, Hans Dieter Nischalke, Karl Heinz Weiss, Daniel Gotthardt, Janett Fischer, Jonas Rosendahl, Pierre Deltenre, Astrid Marot, Mona Elamly, Markus Casper, Frank Lammert, Andrew McQuillin, Steffen Zopf, Ulrich Spengler, Silke Marhenke, Martha M Kirstein, Arndt Vogel, Florian Eyer, Johann von Felden, Henning Wege, Thorsten Buch, Clemens Schafmayer, Felix Braun, Thomas Berg, Marsha Y Morgan, Jochen Hampe
OBJECTIVES: Variants in patatin-like phospholipase domain-containing 3 (PNPLA3; rs738409), transmembrane 6 superfamily member 2 (TM6SF2; rs58542926), and membrane bound O-acyltransferase domain containing 7 (MBOAT7; rs641738) are risk factors for the development of alcohol-related cirrhosis. Within this population, PNPLA3 rs738409 is also an established risk factor for the development of hepatocellular carcinoma (HCC). The aim of this study was to explore possible risk associations of TM6SF2 rs58542926 and MBOAT7 rs641738 with HCC...
March 13, 2018: American Journal of Gastroenterology
William Virgil Brown, Ira Goldberg, Barton Duell, Daniel Gaudet
Plasma triglyceride concentrations are normally below 150 mg/dL in the fasting state. However, these lipids can reach values of several thousand mg/dL. Elevations in this range are due to a massive retention of chylomicrons and usually result from multiple genetic variants with superimposed influences such as diabetes and immune disorders. Less commonly, major gene defects in lipoprotein metabolism can be the cause. These may present soon after birth with strong evidence of familial penetrance. The causes of this syndrome have been discussed in a Roundtable published in the most recent issue of this Journal...
March 5, 2018: Journal of Clinical Lipidology
Tae-Keun Ahn, Jung Oh Kim, Hyun Woo Kim, Han Sung Park, Jeong Hyun Shim, Alexander E Ropper, In Bo Han, Nam Keun Kim
Postmenopausal osteoporosis is one of the most prominent diseases in postmenopausal women and it is increasing in prevalence with the aging population. Furthermore, osteoporosis and osteoporotic vertebral compression fractures (OVCFs) are related to mortality and decreased quality of life. Therefore, searching for biomarkers that are able to identify postmenopausal women who are at high risk of developing OVCFs is an effective strategy for improving the quality of life of patients and alleviating social and economic burdens...
March 12, 2018: International Journal of Molecular Sciences
Paolo Severino, Andrea D'Amato, Lucrezia Netti, Mariateresa Pucci, Marialaura De Marchis, Raffaele Palmirotta, Maurizio Volterrani, Massimo Mancone, Francesco Fedele
Diabetes mellitus is one the strongest risk factors for cardiovascular disease and, in particular, for ischemic heart disease (IHD). The pathophysiology of myocardial ischemia in diabetic patients is complex and not fully understood: some diabetic patients have mainly coronary stenosis obstructing blood flow to the myocardium; others present with coronary microvascular disease with an absence of plaques in the epicardial vessels. Ion channels acting in the cross-talk between the myocardial energy state and coronary blood flow may play a role in the pathophysiology of IHD in diabetic patients...
March 10, 2018: International Journal of Molecular Sciences
Evan D Muse, Nathan E Wineinger, Emily G Spencer, Melissa Peters, Riley Henderson, Yunyue Zhang, Paddy M Barrett, Steven P Rivera, Jay G Wohlgemuth, James J Devlin, Dov Shiffman, Eric J Topol
BACKGROUND: Atrial fibrillation (AF) is the most commonly encountered arrhythmia and is associated with an elevated risk of stroke. Improving the identification of patients with the highest risk for AF to enable appropriate surveillance and treatment, if necessary, is critical to reducing AF-associated morbidity and mortality. Multiple common single nucleotide polymorphisms (SNPs) are unequivocally associated with the lifetime risk of AF. In the current study we aimed to prospectively validate an AF genetic risk score (GRS) in previously undiagnosed patients at risk for AF...
March 2018: PLoS Medicine
Nejla Sellami, Laila Ben Lamine, Amira Turki, Sameh Sarray, Mohammed Jailani, Abrar K Al-Ansari, Mohamed Ghorbel, Touhami Mahjoub, Wassim Y Almawi
BACKGROUND: Vascular endothelial growth factor (VEGF) contributes to type 2 diabetes (T2DM) pathogenesis, and genetic variations in VEGFA gene were suggested to influence VEGF secretion and T2DM pathogenesis. AIM: To evaluate the association of specific VEGFA variants with altered VEGF levels, and with T2DM among Tunisians. SUBJECTS AND METHODS: A retrospective case-control study, performed on 815 T2DM patients, and 805 healthy controls. VEGF levels were measured by ELISA, genotyping of VEGFA variants was done by allelic exclusion method (real-time PCR)...
March 10, 2018: Cytokine
Aaron Parkhurst
In light of increasingly high rates of diabetes, heart disease, and obesity among citizens of the Arabian Gulf, popular health discourse in the region has emphasised the emergent Arab genome as the primary etiological basis of major health conditions. However, after many years of public dissemination of genomic knowledge in the region, and widespread acceptance of this knowledge among Gulf Arab citizens, the rates of chronic illness continue to increase. This paper briefly explores the clash between indigenous Islamic knowledge systems and biomedical knowledge systems imported into the United Arab Emirates...
April 2018: Anthropology & Medicine
Kiking Ritarwan, Aznan Lelo, Yunita Sari Pane, Nerdy Nerdy
AIM: To study the protective effect of medicines on the formation of atherosclerosis in mice, it is needed to conduct the study in mice which is not genetically diabetic mice induced by streptozotocin (STZ) to produce hyperglycemia and atherosclerosis, compared with mice treated by yolk or its combination. MATERIAL AND METHODS: Fifty-six mice, Double Deutch Webster strain, male, receive 10 weeks, 20 - 30 gr bodyweight were divided into 4 groups (n = 14) i.e. control (do not received any agents), STZ (45 mg/kg/BW was injected intraperitoneally for 5 days), yolk (0...
February 15, 2018: Open Access Macedonian Journal of Medical Sciences
Habib Ghaznavi, Ehsan Aali, Mohammad Soleiman Soltanpour
BACKGROUND: ATP - binding cassette transporter A1 (ABCA1) plays essential roles in the biogenesis of high -density lipoprotein - cholesterol. Variations in the ABCA1 gene may influence the risk of coronary artery disease (CAD). AIM: Present study aimed to investigate the association of rs2230806 (R219K) polymorphism of ABCA1 gene with the development and severity of CAD in an Iranian population. MATERIALS AND METHODS: Our study population consisted of 100 patients with angiographically confirmed CAD and 100 controls...
February 15, 2018: Open Access Macedonian Journal of Medical Sciences
Linden Disney-Hogg, Amit Sud, Philip J Law, Alex J Cornish, Ben Kinnersley, Quinn T Ostrom, Karim Labreche, Jeanette E Eckel-Passow, Georgina N Armstrong, Elizabeth B Claus, Dora Il'yasova, Joellen Schildkraut, Jill S Barnholtz-Sloan, Sara H Olson, Jonine L Bernstein, Rose K Lai, Anthony J Swerdlow, Matthias Simon, Per Hoffmann, Markus M Nöthen, Karl-Heinz Jöckel, Stephen Chanock, Preetha Rajaraman, Christoffer Johansen, Robert B Jenkins, Beatrice S Melin, Margaret R Wrensch, Marc Sanson, Melissa L Bondy, Richard S Houlston
BACKGROUND: Obesity and related factors have been implicated as possible aetiological factors for the development of glioma in epidemiological observation studies. We used genetic markers in a Mendelian randomisation framework to examine whether obesity-related traits influence glioma risk. This methodology reduces bias from confounding and is not affected by reverse causation. METHODS: Genetic instruments were identified for 10 key obesity-related risk factors, and their association with glioma risk was evaluated using data from a genome-wide association study of 12,488 glioma patients and 18,169 controls...
March 13, 2018: British Journal of Cancer
Meifang Su, Xiaoying Chen, Yue Chen, Congyun Wang, Songtao Li, Xuhua Ying, Tian Xiao, Na Wang, Qingwu Jiang, Chaowei Fu
BACKGROUND: There are disparities for the association between uncoupling proteins (UCP) and type 2 diabetes (T2DM). The study was to examine the associations of genetic variants of UCP2 and UCP3 with prediabetes and T2DM in a rural Chinese population. METHODS: A population-based case-control study of 397 adults with T2DM, 394 with prediabetes and 409 with normal glucose tolerance (NGT) was carried out in 2014 in a rural community in eastern China. Three groups were identified through a community survey and the prediabetes and NGT groups were frequently matched by age and gender with the T2DM group and they were not relatives of T2DM subjects...
March 12, 2018: BMC Medical Genetics
Mitsugu Shimobayashi, Verena Albert, Bettina Woelnerhanssen, Irina C Frei, Diana Weissenberger, Anne Christin Meyer-Gerspach, Nicolas Clement, Suzette Moes, Marco Colombi, Jerome A Meier, Marta M Swierczynska, Paul Jenö, Christoph Beglinger, Ralph Peterli, Michael N Hall
Obesity is a major risk factor for insulin resistance and type 2 diabetes. In adipose tissue, obesity-mediated insulin resistance correlates with the accumulation of proinflammatory macrophages and inflammation. However, the causal relationship of these events is unclear. Here, we report that obesity-induced insulin resistance in mice precedes macrophage accumulation and inflammation in adipose tissue. Using a mouse model that combines genetically induced, adipose-specific insulin resistance (mTORC2-knockout) and diet-induced obesity, we found that insulin resistance causes local accumulation of proinflammatory macrophages...
March 12, 2018: Journal of Clinical Investigation
Aysun Türkanoğlu Özçelik, Tuğçe Öner, Birsen Can Demirdöğen, Vedat Semai Bek, Şeref Demirkaya, Orhan Adalı
Objective Vitamin D deficiency is known as an important risk factor in pathogenesis of atherosclerosis, which contributes to stroke development. Genetic variations including single nucleotide polymorphisms (SNPs) in enzymes involved in vitamin D metabolism can affect susceptibility to the development of stroke. Therefore, the objective of this study was to investigate the association between polymorphisms of vitamin D metabolizing enzymes (rs927650 SNP in CYP24A1, and rs10741657 SNP in CYP2R1 genes,) and ischemic stroke risk in Turkish population...
March 12, 2018: Neurological Research
Oscar Franzén, Raili Ermel, Katyayani Sukhavasi, Rajeev Jain, Anamika Jain, Christer Betsholtz, Chiara Giannarelli, Jason C Kovacic, Arno Ruusalepp, Josefin Skogsberg, Ke Hao, Eric E Schadt, Johan L M Björkegren
RNA editing modifies transcripts and may alter their regulation or function. In humans, the most common modification is adenosine to inosine (A-to-I). We examined the global characteristics of RNA editing in 4,301 human tissue samples. More than 1.6 million A-to-I edits were identified in 62% of all protein-coding transcripts. mRNA recoding was extremely rare; only 11 novel recoding sites were uncovered. Thirty single nucleotide polymorphisms from genome-wide association studies were associated with RNA editing; one that influences type 2 diabetes (rs2028299) was associated with editing in ARPIN ...
2018: PeerJ
Gianluca Vergine, Elena Fabbri, Annalisa Pedini, Silvana Tedeschi, Niccolò Borsa
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis...
2018: Case Reports in Pediatrics
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