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https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#1
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28765304/leveraging-psychiatric-and-medical-genetics-to-understand-comorbid-depression-and-obesity
#2
EDITORIAL
Anna R Docherty
Precision medicine in psychiatry is on the rise, and depression and obesity - two highly prevalent, comorbid and well-characterised phenotypes - are optimal targets for the approach. Add the bedrock susceptibility gene, FTO, and Riviera et al have identified a constellation of factors that could enhance clinical treatment of both disorders.
August 2017: British Journal of Psychiatry: the Journal of Mental Science
https://www.readbyqxmd.com/read/28744888/meta-analysis-of-gene-environment-interaction-exploiting-gene-environment-independence-across-multiple-case-control-studies
#3
Jason P Estes, John D Rice, Shi Li, Heather M Stringham, Michael Boehnke, Bhramar Mukherjee
Multiple papers have studied the use of gene-environment (G-E) independence to enhance power for testing gene-environment interaction in case-control studies. However, studies that evaluate the role of G-E independence in a meta-analysis framework are limited. In this paper, we extend the single-study empirical Bayes type shrinkage estimators proposed by Mukherjee and Chatterjee (2008) to a meta-analysis setting that adjusts for uncertainty regarding the assumption of G-E independence across studies. We use the retrospective likelihood framework to derive an adaptive combination of estimators obtained under the constrained model (assuming G-E independence) and unconstrained model (without assumptions of G-E independence) with weights determined by measures of G-E association derived from multiple studies...
July 25, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28741265/mechanisms-of-type-2-diabetes-risk-loci
#4
REVIEW
Kyle J Gaulton
PURPOSE OF REVIEW: Deciphering the mechanisms of type 2 diabetes (T2DM) risk loci can greatly inform on disease pathology. This review discusses current knowledge of mechanisms through which genetic variants influence T2DM risk and considerations for future studies. RECENT FINDINGS: Over 100 T2DM risk loci to date have been identified. Candidate causal variants at risk loci map predominantly to non-coding sequence. Physiological, epigenomic and gene expression data suggest that variants at many known T2DM risk loci affect pancreatic islet regulation, although variants at other loci also affect protein function and regulatory processes in adipose, pre-adipose, liver, skeletal muscle and brain...
September 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28738793/association-between-28-single-nucleotide-polymorphisms-and-type-2-diabetes-mellitus-in-the-kazakh-population-a-case-control-study
#5
Nurgul Sikhayeva, Aisha Iskakova, Nuria Saigi-Morgui, Elena Zholdybaeva, Chin-Bin Eap, Erlan Ramanculov
BACKGROUND: We evaluated the associations between single nucleotide polymorphisms and different clinical parameters related to type 2 diabetes mellitus (T2DM), obesity risk, and metabolic syndrome (MS) in a Kazakh cohort. METHODS: A total of 1336 subjects, including 408 T2DM patients and 928 control subjects, were recruited from an outpatient clinic and genotyped for 32 polymorphisms previously associated with T2DM and obesity-related phenotypes in other ethnic groups...
July 24, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28738459/-gene-gene-interaction-on-central-obesity-in-school-aged-children-in-china
#6
L W Fu, M X Zhang, L J Wu, L W Gao, J Mi
Objective: To investigate possible effect of 6 obesity-associated SNPs in contribution to central obesity and examine whether there is an interaction in the 6 SNPs in the cause of central obesity in school-aged children in China. Methods: A total of 3 502 school-aged children who were included in Beijing Child and Adolescent Metabolic Syndrome (BCAMS) Study were selected, and based on the age and sex specific waist circumference (WC) standards in the BCAMS study, 1 196 central obese cases and 2 306 controls were identified...
July 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28727822/dna-methylation-of-candidate-genes-in-peripheral-blood-from-patients-with-type-2-diabetes-or-the-metabolic-syndrome
#7
Sanne D van Otterdijk, Alexandra M Binder, Katarzyna Szarc Vel Szic, Julia Schwald, Karin B Michels
INTRODUCTION: The prevalence of type 2 diabetes (T2D) and the metabolic syndrome (MetS) is increasing and several studies suggested an involvement of DNA methylation in the development of these metabolic diseases. This study was designed to investigate if differential DNA methylation in blood can function as a biomarker for T2D and/or MetS. METHODS: Pyrosequencing analyses were performed for the candidate genes KCNJ11, PPARγ, PDK4, KCNQ1, SCD1, PDX1, FTO and PEG3 in peripheral blood leukocytes (PBLs) from 25 patients diagnosed with only T2D, 9 patients diagnosed with T2D and MetS and 11 control subjects without any metabolic disorders...
2017: PloS One
https://www.readbyqxmd.com/read/28717589/association-of-polymorphic-markers-of-genes-fto-kcnj11-cdkal1-slc30a8-and-cdkn2b-with-type-2-diabetes-mellitus-in-the-russian-population
#8
Aleksey G Nikitin, Viktor Y Potapov, Olga I Brovkina, Ekaterina O Koksharova, Dmitry S Khodyrev, Yury I Philippov, Marina S Michurova, Minara S Shamkhalova, Olga K Vikulova, Svetlana A Smetanina, Lyudmila A Suplotova, Irina V Kononenko, Viktor Y Kalashnikov, Olga M Smirnova, Alexander Y Mayorov, Valery V Nosikov, Alexander V Averyanov, Marina V Shestakova
BACKGROUND: The association of type 2 diabetes mellitus (T2DM) with the KCNJ11, CDKAL1, SLC30A8, CDKN2B, and FTO genes in the Russian population has not been well studied. In this study, we analysed the population frequencies of polymorphic markers of these genes. METHODS: The study included 862 patients with T2DM and 443 control subjects of Russian origin. All subjects were genotyped for 10 single nucleotide polymorphisms (SNPs) of the genes using real-time PCR (TaqMan assays)...
2017: PeerJ
https://www.readbyqxmd.com/read/28712975/fto-genotype-and-weight-status-among-preadolescents-assessing-the-mediating-effects-of-obesogenic-appetitive-traits
#9
Jennifer A Emond, Alison Tovar, Zhigang Li, Reina K Lansigan, Diane Gilbert-Diamond
Polymorphisms in the Fat Mass and Obesity Associated (FTO) gene are robustly associated with overweight and obesity among children, although the underlying mechanisms are poorly understood. We tested if appetitive traits partially mediated the association between FTO genotype and increased BMI among a sample of US preadolescents. Data were from 178 unrelated 9-10 year olds who participated in an experimental study between 2013 and 2015. Children's DNA was isolated from buccal swabs, and the rs9939609 SNP in the FTO gene was genotyped...
October 1, 2017: Appetite
https://www.readbyqxmd.com/read/28690685/examining-for-an-association-between-candidate-gene-polymorphisms-in-the-metabolic-syndrome-components-on-excess-weight-and-adiposity-measures-in-youth-a-cross-sectional-study
#10
Angélica María Muñoz, Claudia María Velásquez, Gloria María Agudelo, Rosa Magdalena Uscátegui, Alejandro Estrada, Fredy Alonso Patiño, Beatriz Elena Parra, María Victoria Parra, Gabriel Bedoya
BACKGROUND: A polymorphism in a gene may exert its effects on multiple phenotypes. The aim of this study is to explore the association of 10 metabolic syndrome candidate genes with excess weight and adiposity and evaluate the effect of perinatal and socioeconomic factors on these associations. METHODS: The anthropometry, socioeconomic and perinatal conditions and 10 polymorphisms were evaluated in 1081 young people between 10 and 18 years old. Genotypic associations were calculated using logistic and linear models adjusted by age, gender, and pubertal maturation, and a genetic risk score (GRS) was calculated by summing the number of effect alleles...
2017: Genes & Nutrition
https://www.readbyqxmd.com/read/28662178/genetic-association-of-fto-irx-region-with-obesity-and-overweight-in-the-polish-population
#11
Marta Sobalska-Kwapis, Aleksandra Suchanecka, Marcin Słomka, Anna Siewierska-Górska, Ewa Kępka, Dominik Strapagiel
BACKGROUND/OBJECTIVES: Genome-wide association studies (GWAS) have identified many loci associated with body mass index (BMI) in many different populations. Variants in the FTO locus are reported to be one of the strongest genetic predictors of obesity. Recent publications pointed also to a topologically associated domain (TAD) which is identified as a novel region affecting BMI. The TAD area encompasses the IRXB cluster (IRX3, IRX5, IRX6), FTO and RPGRIP1L genes. SUBJECTS/METHODS: In this study, we investigated the relationship between variation of the FTO and IRX genes and obesity in Poles...
2017: PloS One
https://www.readbyqxmd.com/read/28659218/effect-of-dietary-consumption-as-a-modifier-on-the-association-between-fto-gene-variants-and-excess-body-weight-in-children-from-an-admixed-population-in-brazil-the-social-changes-asthma-and-allergy-in-latin-america-scaala-cohort-study
#12
Marília Vilella, Gustavo Nunes de Oliveira Costa, Maurício Lima Barreto, Camila Alexandrina Figueredo, Neuza Maria Alcantara-Neves, Laura Cunha Rodrigues, Sheila Maria Alvim de Matos, Rosemeire Leovigildo Fiaccone, Pablo Oliveira, Aline Rocha, Rita de Cássia Ribeiro-Silva
Previous studies have shown associations of variants of the FTO gene with body weight, but none of these have involved Latin American populations with a high level of miscegenation, as is seen in the north-eastern Brazilian population. This study evaluated the association between SNP in the FTO gene and excess weight in Salvador, Bahia, Brazil. In addition, the effect of diet as a modifier on this association was also investigated. This cross-sectional study included 1191 participants aged 4-11 years, who were genotyped for 400 variants of the FTO gene...
June 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28642257/interaction-between-the-fto-gene-body-mass-index-and-depression-meta-analysis-of-13701-individuals
#13
REVIEW
Margarita Rivera, Adam E Locke, Tanguy Corre, Darina Czamara, Christiane Wolf, Ana Ching-Lopez, Yuri Milaneschi, Stefan Kloiber, Sara Cohen-Woods, James Rucker, Katherine J Aitchison, Sven Bergmann, Dorret I Boomsma, Nick Craddock, Michael Gill, Florian Holsboer, Jouke-Jan Hottenga, Ania Korszun, Zoltan Kutalik, Susanne Lucae, Wolfgang Maier, Ole Mors, Bertram Müller-Myhsok, Michael J Owen, Brenda W J H Penninx, Martin Preisig, John Rice, Marcella Rietschel, Federica Tozzi, Rudolf Uher, Peter Vollenweider, Gerard Waeber, Gonneke Willemsen, Ian W Craig, Anne E Farmer, Cathryn M Lewis, Gerome Breen, Peter McGuffin
BackgroundDepression and obesity are highly prevalent, and major impacts on public health frequently co-occur. Recently, we reported that having depression moderates the effect of the FTO gene, suggesting its implication in the association between depression and obesity.AimsTo confirm these findings by investigating the FTO polymorphism rs9939609 in new cohorts, and subsequently in a meta-analysis.MethodThe sample consists of 6902 individuals with depression and 6799 controls from three replication cohorts and two original discovery cohorts...
June 22, 2017: British Journal of Psychiatry: the Journal of Mental Science
https://www.readbyqxmd.com/read/28636007/analysis-of-association-of-gene-variants-with-obesity-traits-in-new-zealand-european-children-at-6-years-of-age
#14
Mohanraj Krishnan, John M D Thompson, Edwin A Mitchell, Rinki Murphy, Lesley M E McCowan, Andrew N Shelling, G On Behalf Of The Children Of Scope Study Group
Childhood obesity is a public health problem, which is associated with a long-term increased risk of cardiovascular disease and premature mortality. Several gene variants have previously been identified that have provided novel insights into biological factors that contribute to the development of obesity. As obesity tracks through childhood into adulthood, identification of the genetic factors for obesity in early life is important. The objective of this study was to identify putative associations between genetic variants and obesity traits in children at 6 years of age...
July 25, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28626215/genetic-variation-in-the-obesity-gene-fto-is-not-associated-with-decreased-fat-oxidation-the-neo-study
#15
L L Blauw, R Noordam, S Trompet, J F P Berbée, F R Rosendaal, D van Heemst, K W van Dijk, D O Mook-Kanamori, R de Mutsert, P C N Rensen
BACKGROUND: The FTO gene harbours the strongest common genetic variant associated with obesity. Recently, rs1421085-T to -C substitution mapped in FTO was shown to induce a developmental shift of human adipocytes from an energy-combusting beige to an energy-storing white phenotype in vitro. As browning of adipocytes selectively enhances fat oxidation (FatOx), we hypothesized that rs1421085-C in FTO is associated with deceased FatOx compared with carbohydrate oxidation (CarbOx) and an increased respiratory quotient (RQ)...
June 19, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28626026/protein-kinase-c%C3%AE-activates-fat-mass-and-obesity-associated-protein-by-influencing-its-ubiquitin-proteasome-degradation
#16
Haoran Tai, Xiaobo Wang, Jiao Zhou, Xiaojuan Han, Tingting Fang, Hui Gong, Ning Huang, Honghan Chen, Jianqiong Qin, Ming Yang, Xiawei Wei, Li Yang, Hengyi Xiao
PKCβ is a serine-threonine kinase associated with obesity and diabetic complications; its activation contributes to weight gain, and deletion of its gene results in resistance to genetic- and diet-induced obesity. Fat mass and obesity-associated (FTO) protein is a recently identified RNA demethylase, and its overexpression in mice leads to increased body weight as well as fat mass. Although sharing some features in anabolism regulation, PKCβ and FTO have not been investigated together; therefore, their relationship has not been established...
June 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28615046/the-association-of-insertions-deletions-indels-and-variable-number-tandem-repeats-vntrs-with-obesity-and-its-related-traits-and-complications
#17
REVIEW
Yee-How Say
BACKGROUND: Despite the fact that insertions/deletions (INDELs) are the second most common type of genetic variations and variable number tandem repeats (VNTRs) represent a large portion of the human genome, they have received far less attention than single nucleotide polymorphisms (SNPs) and larger forms of structural variation like copy number variations (CNVs), especially in genome-wide association studies (GWAS) of complex diseases like polygenic obesity. This is exemplified by the vast amount of review papers on the role of SNPs and CNVs in obesity, its related traits (like anthropometric measurements, biochemical variables, and eating behavior), and its related complications (like hypertension, hypertriglyceridemia, hypercholesterolemia, and insulin resistance-collectively known as metabolic syndrome)...
June 14, 2017: Journal of Physiological Anthropology
https://www.readbyqxmd.com/read/28607931/genetic-epidemiology-of-type-2-diabetes-in-mexican-mestizos
#18
REVIEW
Eiralí Guadalupe García-Chapa, Evelia Leal-Ugarte, Valeria Peralta-Leal, Jorge Durán-González, Juan Pablo Meza-Espinoza
There are currently about 415 million people with diabetes worldwide, a figure likely to increase to 642 million by 2040. In 2015, Mexico was the second Latin American country and sixth in the world in prevalence of this disorder with nearly 11.5 million of patients. Type 2 diabetes (T2D) is the main kind of diabetes and its etiology is complex with environmental and genetic factors involved. Indeed, polymorphisms in several genes have been associated with this disease worldwide. To estimate the genetic epidemiology of T2D in Mexican mestizos a systematic bibliographic search of published articles through PubMed, Scopus, Google Scholar, and Web of Science was conducted...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28607773/fto-gene-associates-and-interacts-with-obesity-risk-physical-activity-energy-intake-and-time-spent-sitting-pilot-study-in-a-nigerian-population
#19
Bolaji Fatai Oyeyemi, Charles Ayorinde Ologunde, Ayonposi Bukola Olaoye, Nanfizat Abiket Alamukii
Fat mass and obesity-associated (FTO) gene influences obesity but studies have shown that environmental/lifestyle variables like physical activity (PA), time spent sitting (TSS), and energy intake might mediate the effect. However, this is poorly understood in Nigeria due to scarce studies. We demystified association and interaction between FTO rs9939609, obesity, PA, TSS, and energy intake in Nigeria. FTO gene variant was genotyped by restriction fragment length polymorphism and gene sequencing analysis in 103 people with obesity and 98 controls...
2017: Journal of Obesity
https://www.readbyqxmd.com/read/28607568/review-of-studies-on-the-fat-mass-and-obesity-associated-fto-gene-interactions-with-environmental-factors-affecting-on-obesity-and-its-impact-on-lifestyle-interventions
#20
REVIEW
Naser Kalantari, Saeid Doaei, Nastaran Keshavarz-Mohammadi, Maryam Gholamalizadeh, Naeimeh Pazan
BACKGROUND: The prevalence of obesity is influenced by environmental and genetic factors. Recently, it has been reported that an interaction between genotype and environmental factors can affect each other's effects on the phenotype. The purpose of this study is to evaluate the recent studies on the fat mass and obesity-associated (FTO) gene interactions with environmental factors affecting on obesity and the impact of these interactions on the success level of the lifestyle intervention...
November 2016: ARYA Atherosclerosis
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