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https://www.readbyqxmd.com/read/30319454/a-single-complex-agpat2-allele-in-a-patient-with-partial-lipodystrophy
#1
Marjoleine F Broekema, Maarten P G Massink, Joep De Ligt, Edwin C A Stigter, Houshang Monajemi, Jeroen De Ridder, Boudewijn M T Burgering, Gijs W van Haaften, Eric Kalkhoven
Genetic lipodystrophies are a group of rare syndromes associated with major metabolic complications - including severe insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia - which are classified according to the distribution of adipose tissue. Lipodystrophies can be present at birth or develop during life and can range from local to partial and general. With at least 18 different genes implicated so far, definite diagnosis can be challenging due to clinical and genetic heterogeneity. In an adult female patient with clinical and metabolic features of partial lipodystrophy we identified via whole genome sequencing (WGS) a single complex AGPAT2 allele [V67M;V167A], functionally equivalent to heterozygosity...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/30319284/irs-1-genetic-polymorphism-r-2963g-a-in-type-2-diabetes-mellitus-patients-associated-with-insulin-resistance
#2
Anas A Yousef, Eman G Behiry, Wafaa M Abd Allah, Ahmed M Hussien, Abdelmoneam A Abdelmoneam, Mahmoud H Imam, Doaa M Hikal
Background: Insulin receptor substrate (IRS) molecules are key mediators in insulin signaling. Several polymorphisms in the IRS genes have been identified, but only the Gly to Arg 972 substitution of IRS-1 seems to have a pathogenic role in the development of type 2 diabetes mellitus (T2DM). Many polymorphisms described in IRS-1 gene, especially Gly972Arg substitution, are shown to be associated with insulin resistance (IR) in T2DM. Subjects and methods: This prospective case-control study was performed during the period from November 2014 to May 2015...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/30289472/genomic-analyses-of-human-european-diversity-at-the-southwestern-edge-isolation-african-influence-and-disease-associations-in-the-canary-islands
#3
Beatriz Guillen-Guio, Jose M Lorenzo-Salazar, Rafaela González-Montelongo, Ana Díaz-de Usera, Itahisa Marcelino-Rodríguez, Almudena Corrales, Antonio Cabrera de León, Santos Alonso, Carlos Flores
Despite the genetic resemblance of Canary Islanders to other southern European populations, their geographical isolation and the historical admixture of aborigines (from North Africa) with sub-Saharan Africans and Europeans have shaped a distinctive genetic makeup that likely affects disease susceptibility and health disparities. Based on single nucleotide polymorphism (SNP) array data and whole genome sequencing (30x), we inferred that the last African admixture took place around 14 generations ago and estimated that up to 34% of the Canary Islander genome is of recent African descent...
October 5, 2018: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/30279987/evolution-of-blood-pressure-control-identification-in-lieu-of-post-surgery-diabetic-patients-a-review
#4
A Alavudeen Basha, S Vivekanandan, P Parthasarathy
The blood pressure disparity is the major problem in post-operative surgery especially diabetic patients, because there is substantial interrelation between diabetic and hypertension and this abnormality creates complicated problems and needs to be controlled by continuous monitoring based on the severity. To overcome this problem, implementation of automatic drug infusion is required for critical patients, by which workload of the clinical staffs are reduced. Most commonly the sodium nitroprusside (SNP) is used to reduce the blood pressure in fast action based on the prescribed level...
December 2018: Health Information Science and Systems
https://www.readbyqxmd.com/read/30261627/molecular-biomarkers-for-gestational-diabetes-mellitus
#5
REVIEW
Stephanie Dias, Carmen Pheiffer, Yoonus Abrahams, Paul Rheeder, Sumaiya Adam
Gestational diabetes mellitus (GDM) is a growing public health problem worldwide. The condition is associated with perinatal complications and an increased risk for future metabolic disease in both mothers and their offspring. In recent years, molecular biomarkers received considerable interest as screening tools for GDM. The purpose of this review is to provide an overview of the current status of single-nucleotide polymorphisms (SNPs), DNA methylation, and microRNAs as biomarkers for GDM. PubMed, Scopus, and Web of Science were searched for articles published between January 1990 and August 2018...
September 26, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/30256013/association-between-interleukin-10-gene-1082g-a-polymorphism-and-type-2-diabetes-diabetes-related-traits-and-microvascular-complications-in-the-croatian-population
#6
Silvija Canecki-Varžić, Ivana Prpić-Križevac, Silvio Mihaljević, Ines Bilić-Ćurčić, Tamara Alkhamis, Jasenka Wagner, Ivana Škrlec, Jerko Barbić
Interleukin (IL)-10 is an anti-inflammatory cytokine, and a decrease in its secretion is associated with obesity, metabolic syndrome and type 2 diabetes. However, it has not been established whether the intensity of the immune response during diabetes-associated chronic inflammation affects the development and/or progression of type 2 diabetes and its microvascular complications. The aim of this study was to investigate the role of single nucleotide polymorphism (SNP)-1082G/A for IL-10 gene in development of diabetes type 2 and its complications...
March 2018: Acta Clinica Croatica
https://www.readbyqxmd.com/read/30254725/association-of-tcf7l2-mutation-and-atypical-diabetes-in-a-uruguayan-population
#7
Carolina Beloso, Jorge Souto, Matias Fabregat, Gerardo Romanelli, Gerardo Javiel, Adriana Mimbacas
AIM: To investigate if mutations in TCF7L2 are associated with "atypical diabetes" in the Uruguayan population. METHODS: Healthy, nondiabetic controls ( n = 133) and patients with type 2 diabetes ( n = 177) were selected from among the presenting population at level-3 referral healthcare centers in Uruguay. Patients with type 2 diabetes were subgrouped according to "atypical diabetes" ( n = 92) and "classical diabetes" ( n = 85). Genotyping for the rs12255372 and rs7903146 single nucleotide polymorphisms (SNPs) in the TCFTL2 gene was carried out with Taq Man® probes...
September 15, 2018: World Journal of Diabetes
https://www.readbyqxmd.com/read/30229575/calpain-10-and-adiponectin-gene-polymorphisms-in-korean-type-2-diabetes-patients
#8
Ji Sun Nam, Jung Woo Han, Sang Bae Lee, Ji Hong You, Min Jin Kim, Shinae Kang, Jong Suk Park, Chul Woo Ahn
BACKGROUND: Genetic variations in calpain-10 and adiponectin gene are known to influence insulin secretion and resistance in type 2 diabetes mellitus. Recently, several single nucleotide polymorphisms (SNPs) in calpain-10 and adiponectin gene have been reported to be associated with type 2 diabetes and various metabolic derangements. We investigated the associations between specific calpain-10 and adiponectin gene polymorphisms and Korean type 2 diabetes patients. METHODS: Overall, 249 type 2 diabetes patients and 131 non-diabetic control subjects were enrolled in this study...
September 2018: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/30227878/ace2-polymorphisms-associated-with-cardiovascular-risk-in-uygurs-with-type-2-diabetes-mellitus
#9
Cheng Liu, Yanfang Li, Tianwang Guan, Yanxian Lai, Yan Shen, Abudurexiti Zeyaweiding, Haiyan Zhao, Fang Li, Tutiguli Maimaiti
BACKGROUND: Type 2 diabetes mellitus (T2D), rapidly increasing to epidemic proportions, globally escalates cardiovascular disease risk. Although intensive interventions and comprehensive management of environmental risks factors for T2D are associated with reduced cardiovascular disease, such approaches are limited for individuals with high genetic T2D risk. In this study we investigated possible associations of ACE2 polymorphisms and cardiovascular risks in Uygur patients with T2D. METHODS: 275 Uygur T2D patients and 272 non-diabetic Uygur individuals were enrolled as study participants...
September 18, 2018: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/30224876/a-sod2-polymorphism-is-associated-with-abnormal-quantitative-sensory-testing-in-type-2-diabetic-patients
#10
Ali Işikli, Ayşe Kubat-Üzüm, İlhan Satman, Zeliha Matur, A Emre Öge, Cem İsmail Küçükali, Erdem Tüzün, Sacide Erden, Elif Özkök
Introduction: Diabetes mellitus (DM) affects peripheral nerves inducing diabetic polyneuropathy (DPN). Mitochondrial dysfunction and oxidative stress are potential causes of DPN. Methods: Nerve conduction studies were performed in 20 type 2 DM patients (11 with DPN) and 15 healthy controls. Perception threshold values of cold, warm and vibration were measured by quantitative sensory testing. Variants of a superoxide dismutase 2 (SOD2) gene single nucleotide polymorphism (SNP) (rs5746136) were determined by polymerase chain reaction (PCR) and following NexteraXT DNA Library...
September 2018: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/30224649/fine-mapping-and-functional-studies-highlight-potential-causal-variants-for-rheumatoid-arthritis-and-type-1-diabetes
#11
Harm-Jan Westra, Marta Martínez-Bonet, Suna Onengut-Gumuscu, Annette Lee, Yang Luo, Nikola Teslovich, Jane Worthington, Javier Martin, Tom Huizinga, Lars Klareskog, Solbritt Rantapaa-Dahlqvist, Wei-Min Chen, Aaron Quinlan, John A Todd, Steve Eyre, Peter A Nigrovic, Peter K Gregersen, Stephen S Rich, Soumya Raychaudhuri
To define potentially causal variants for autoimmune disease, we fine-mapped1,2 76 rheumatoid arthritis (11,475 cases, 15,870 controls)3 and type 1 diabetes loci (9,334 cases, 11,111 controls)4 . After sequencing 799 1-kilobase regulatory (H3K4me3) regions within these loci in 568 individuals, we observed accurate imputation for 89% of common variants. We defined credible sets of ≤5 causal variants at 5 rheumatoid arthritis and 10 type 1 diabetes loci. We identified potentially causal missense variants at DNASE1L3, PTPN22, SH2B3, and TYK2, and noncoding variants at MEG3, CD28-CTLA4, and IL2RA...
October 2018: Nature Genetics
https://www.readbyqxmd.com/read/30188962/association-between-rbms1-gene-rs7593730-and-bcar1-gene-rs7202877-and-type-2-diabetes-mellitus-in-the-chinese-han-population
#12
Elena V Kazakova, Meijun Chen, Esma Jamaspishvili, Zhang Lin, Jingling Yu, Lulu Sun, Hong Qiao
Two recent studies found that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 are related to type 2 diabetes. However, the association of these loci with type 2 diabetes mellitus (T2DM) has not been examined in Chinese. We performed a replication study to investigate the association of the 2 susceptibility loci with T2DM in the Chinese population. We genotyped 1961 Chinese participants (991 with T2DM and 970 controls) for each of the 2 single nucleotide polymorphisms (SNPs) rs7593730 in RBMS1 and rs7202877 near BCAR1 using SNPscan and examined their association with T2DM using logistic regression analysis...
2018: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/30188420/genetics-of-coronary-artery-disease-should-they-impact-the-choice-of-revascularization
#13
Sonya K Hui, Emma Lindale, Louise Sun, Marc Ruel
PURPOSE OF REVIEW: Patients with multivessel coronary artery disease (CAD) may undergo revascularization by either percutaneous coronary intervention (PCI) or coronary artery bypass graft surgery (CABG). This review will discuss the use of polygenic risk scores for risk-stratification of patients with multivessel CAD in order to guide the choice of revascularization. RECENT FINDINGS: A 57-single nucleotide polymorphism (SNP)-polygenic risk score can accurately risk-stratify patients with CAD and identify those who will receive greater benefit from statin therapy...
November 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/30181159/type-2-diabetes-associated-genetic-variants-regulate-chromatin-accessibility-in-human-islets
#14
Shubham Khetan, Romy Kursawe, Ahrim Youn, Nathan Lawlor, Alexandria Jillette, Eladio J Marquez, Duygu Ucar, Michael L Stitzel
Type 2 Diabetes (T2D) is a complex disorder in which both genetic and environmental risk factors contribute to islet dysfunction and failure. Genome-wide association studies (GWAS) have linked single nucleotide polymorphisms (SNPs), most of which are noncoding, in >200 loci to islet dysfunction and T2D. Identification of the putative causal variants, their target genes, and whether they lead to gain- or loss-of-function remains challenging. Here, we profiled chromatin accessibility in pancreatic islet samples from 19 genotyped individuals and identified 2949 SNPs associated with in vivo cis -regulatory element (RE) use (i...
September 4, 2018: Diabetes
https://www.readbyqxmd.com/read/30176313/gene-variants-in-akt1-gckr-and-socs3-are-differentially-associated-with-metabolic-traits-in-mexican-amerindians-and-mestizos
#15
Miguel A Cid-Soto, Angélica Martínez-Hernández, Humberto García-Ortíz, Emilio J Córdova, Francisco Barajas-Olmos, Federico Centeno-Cruz, Cecilia Contreras-Cubas, Elvia C Mendoza-Caamal, Isabel Ciceron-Arellano, Monserrat I Morales-Rivera, Juan L Jimenez-Ruiz, Guadalupe Salas-Martínez, Yolanda Saldaña-Álvarez, Cristina Revilla-Monsalve, Sergio Islas-Andrade, Lorena Orozco
Amerindian ancestry appears to be a risk factor for metabolic diseases (MetD), making Mexicans an ideal population to better understand the genetic architecture of metabolic health. In this study, we determine the association of genetic variants previously reported with metabolic entities, in two Mexican populations, including the largest sample of Amerindians reported to date. We investigated the association of eigth single-nucleotide polymorphisms (SNPs) in AKT1, GCKR, and SOCS3 genes with different metabolic traits in 1923 Mexican Amerindians (MAs) belonging to 57 ethnic groups, and 855 Mestizos (MEZs)...
August 31, 2018: Gene
https://www.readbyqxmd.com/read/30157802/a-variant-in-kcnq1-gene-predicts-metabolic-syndrome-among-northern-urban-han-chinese-women
#16
Yafei Liu, Chunxia Wang, Yafei Chen, Zhongshang Yuan, Tao Yu, Wenchao Zhang, Fang Tang, Jianhua Gu, Qinqin Xu, Xiaotong Chi, Lijie Ding, Fuzhong Xue, Chengqi Zhang
BACKGROUND: Previous studies have reported that the potassium voltage-gated channel subfamily Q member 1 (KCNQ1) gene is associated with diabetes in both European and Asian population. This study aims to find a predictable single nucleotide polymorphism (SNP) to predict the risk of metabolic syndrome (MetS) through investigating the association of SNP in KCNQ1 gene with MetS in Han Chinese women of northern urban area. METHODS: Six SNPs were selected and genotyped in 1381 unrelated women aged 21 and above, who have had physical check-up in Shandong Provincial Qianfoshan Hospital...
August 29, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/30148103/-olr1-gene-polymorphism-and-oxidized-ldl-levels-in-metabolic-syndrome-in-indian-population
#17
Elvia Jamatia, Pramod Lali, B C Koner, D K Dhanwal, Mirza Masroor, Kritika Krishnamurthy, Aditi Singh
Objective: Metabolic syndrome (MetS) is associated with abnormal lipid profile and high cardiovascular risk. There is an increased prevalence of coronary artery disease and Type 2 Diabetes Mellitus in India. Oxidized Low Density Lipoprotein Receptor 1(OLR1), a cell surface endocytosis receptor recognize, internalize and degrade oxidized LDL (oxLDL) in vascular endothelium and plays a role in the pathogenesis of atherosclerosis. The aim was to explore the association of OLR1 gene polymorphism and measure the serum levels of ox-LDL in patients with MetS in Indian population...
July 2018: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/30146708/association-of-genetic-risk-score-and-chronic-kidney-disease-in-a-japanese-population
#18
Ryosuke Fujii, Asahi Hishida, Masahiro Nakatochi, Norihiro Furusyo, Masayuki Murata, Keitaro Tanaka, Chisato Shimanoe, Sadao Suzuki, Miki Watanabe, Nagato Kuriyama, Teruhide Koyama, Toshiro Takezaki, Ippei Shimoshikiryo, Kokichi Arisawa, Sakurako Katsuura-Kamano, Naoyuki Takashima, Tanvir C Turin, Kiyonori Kuriki, Kaori Endoh, Haruo Mikami, Yohko Nakamura, Isao Oze, Hidemi Ito, Michiaki Kubo, Yukihide Momozawa, Takaaki Kondo, Mariko Naito, Kenji Wakai
Chronic kidney disease (CKD) is a public health problem worldwide including Japan. Recent genome-wide association studies (GWAS) have discovered CKD susceptibility variants. We developed a genetic risk score (GRS) based on CKD-associated variants and assessed a possibility that the GRS can improve the discrimination capability for the prevalence of CKD in a Japanese population. The present study consists of 11,283 participants randomly selected from 12 Japan Multi-Institutional Collaborative Cohort (J-MICC) Study sites...
August 26, 2018: Nephrology
https://www.readbyqxmd.com/read/30146008/identification-of-loci-where-dna-methylation-potentially-mediates-genetic-risk-of-type-1-diabetes
#19
Jody Ye, Tom G Richardson, Wendy L McArdle, Caroline L Relton, Kathleen M Gillespie, Matthew Suderman, Gibran Hemani
The risk of Type 1 Diabetes (T1D) comprises both genetic and environmental components. We investigated whether genetic susceptibility to T1D could be mediated by changes in DNA methylation, an epigenetic mechanism that potentially plays a role in autoimmune diabetes. From enrichment analysis, we found that there was a common genetic influence for both DNA methylation and T1D across the genome, implying that methylation could be either on the causal pathway to T1D or a non-causal biomarker of T1D genetic risk...
September 2018: Journal of Autoimmunity
https://www.readbyqxmd.com/read/30142673/metabolic-determinants-of-impaired-pulmonary-function-in-patients-with-newly-diagnosed-type-2-diabetes-mellitus
#20
Martin Röhling, Dominik Pesta, Daniel F Markgraf, Klaus Strassburger, Birgit Knebel, Volker Burkart, Julia Szendroedi, Karsten Müssig, Michael Roden
AIMS: Impaired lung function associates with deterioration of glycemic control and diabetes-related oxidative stress in long-standing type 2 diabetes. We hypothesized that recent-onset type 2 diabetes patients exhibit abnormal pulmonary function when compared to glucose-tolerant controls and that the frequencies of single-nucleotide polymorphisms (SNPs), known to associate with lung dysfunction, are different between both groups. METHODS: Type 2 diabetes patients with a known disease duration<1 year (n=34) had similar age, sex distribution and BMI as overweight controls (n=26)...
September 2018: Experimental and Clinical Endocrinology & Diabetes
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