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8050136 on subcutaneous fat and a trend for liver fat content. NAFLD is closely related to metabolic disorders, such as insulin resistance and obesity [ 13 ], and is also related to variability in some important NAFLD genes (i.e., PNPLA3 and TM6SF2 ) [ 14 ]. So far, the relationships of FTO gene variants with NAFLD risk remain unclear. Our study was designed to explore the relationships of FTO gene variations with NAFLD risk in a Chinese male population. 2 Participants and methods 2.1 Study population We used a 1:2 nested case–control study design in our study

Illegitimate Recombination and Gonococcal Pilin Gene Variation Stuart A. Hill, Sandra G. Morrison and John Swanson NIAID Laboratory of Microbial Structure and Function, Rocky Mountain Laboratories, Hamilton, MT 59840 Introduction Gonococcal pilin gene variation is believed to occur by a unidirectional, intra-genomic transfer of genetic information from one of several silent pilin genes (piiS) that replaces the resident information at the single pilin expression locus (pilE); the outcome resembles classical gene con- version (1-3). However, inter

Clin Chem Lab Med 2008;46(2):292–295 2008 by Walter de Gruyter • Berlin • New York. DOI 10.1515/CCLM.2008.027 2007/377 Article in press - uncorrected proof Letter to the Editor Tumor necrosis factor-a G(–308)A promoter polymorphism, matrix metalloproteinase (MMP)-3 5A/6A gene variation, MMP-9 C(–1562)T promoter polymorphism and risk and extent of ischemic heart disease Andreas Krumsiek1, Siegfried Kropf2 and Andreas Gardemann1,* 1 Pathologische Biochemie, Medizinische Fakultät, Otto-von-Guericke-Universität Magdeburg, Magdeburg, Germany 2 Biometrie und


The Brain Reward Cascade (BRC) is an interaction of neurotransmitters and their respective genes to control the amount of dopamine released within the brain. Any variations within this pathway, whether genetic or environmental (epigenetic), may result in addictive behaviors as well as altered pain tolerance. While there are many studies claiming a genetic association with addiction and other behavioral infractions, defined as Reward Deficiency Syndrome (RDS), not all are scientifically accurate and in some case just wrong. Albeit our bias, we discuss herein the facts and fictions behind molecular genetic testing in RDS (including pain and addiction) and the significance behind the development of the Genetic Addiction Risk Score (GARSPREDX™), the first test to accurately predict one’s genetic risk for RDS.

. Thus, the protein product of CROT gene has an important role in lipid metabolism and fatty acid β-oxidation [ 9 ]. β-Oxidation of fatty acids is the main energy source used to maintain contractile function in especially heart and skeletal muscle [ 14 ]. Therefore, the defect/dysregulation in the β-oxidation in the heart may result in a decrease in energy input of the heart. In many studies, it was investigated the association of CPTIA gene variations with the obesity [ 15 ] and lipid disorders [ 8 ], [ 16 ]. However, the effects of the variations in both CPTIA

Endocrinology and Diabetes (SIEDP). Diabetologia 2001;44:898–905. 10.1007/s001250100530 Massa O Meschi F Cuesta-Munoz A Caumo A Cerutti F Toni S High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP) Diabetologia 2001 44 898 905 12. Awa WL, Thon A, Raile K, Grulich-Henn J, Meissner T, Schober E, et al. Genetic and clinical characteristics of patients with HNF1A gene variations

.6-25 pmol/L. For anti-Tg and anti-TPO, a reciprocal titer of >1:100 was considered positive. Statistical Analyses . The Hardy-Weinberg equilibrium (HWE) was assessed by the 𝜒 2 test. Codominant and dominant models were used to evaluate the relationship between gene variations and the risk and prognosis of AITD. Alleles and genotypes distribution between patients and controls were estimated using the 𝜒 2 test or Fischer’s exact test. Clinical parameters were compared with VDR or FCGR2A genotype counts in AITD, HT and GD patients through this separations: age of

Abstract Background: New tools to identify genotype-pheno- type interactions need to be described and imple- mented. The aim of this study was to identify correlation between the risk originating from gene variation and diet-dependent development of insulin resistance. Methods: Insulin output in terms of area under the curve after an oral glucose tolerance test (AUC Ins OGTT) and lipid tolerance tests (AUC Ins OLTT) were measured in 167 overweight/obese patients. Estima- tion of the 18 common gene polymorphisms for obe- sity risk and standard phenotyping were performed


The European pond turtle, Emys orbicularis, inhabits a wide distribution area in the western Palaearctic. Polish populations of pond turtle represent the nominotypical subspecies Emys orbicularis orbicularis. The mitochondrial DNA haplotype (cytb gene) variation among 131 turtles from 26 locations in five regions of Poland was investigated. Five haplotypes belonging to three distinct lineages were identified. Two clades (I and II) were represented by two haplotypes each, while the other clade (IV) was represented by one haplotype. Three haplotypes were reported for the first time in E. orbicularis. The eastern part of Poland is inhabited exclusively by turtles bearing haplotype Ia. The remaining four sequence variants were recorded in western Poland where only the IIb haplotype is considered endemic. The distribution of the other haplotypes in western Poland could thus reflect past introductions or accidental releases. The authors regarded the two locations (Drzeczkowo and Karpicko) that were first included in the western Poland populations as autochthonous catchment areas of haplotype Ia.


During eruption of teeth in the oral cavity, the effect of gene variations and environmental factors can result in morphological and structural changes in teeth. Amelogenesis imperfecta is a failure which is detected on the enamel of the teeth and clinical picture varies by the severity and type of the disease. Classification of the types of amelogenesis imperfecta is determined by histological, genetic, clinical and radiographic criteria. Specifically, there are 4 types of amelogenesis imperfecta (according to Witkop): hypoplastic form, hypo-maturation form, hypo-calcified form, and hypo-maturation/hypoplasia form with taurodontism and 14 subcategories. The diagnosis and classification of amelogenesis imperfecta has traditionally been based on clinical presentation or phenotype and the inheritance pattern. Several genes can be mutated and cause the disease. Millions of genes, possibly more than 10,000 genes produce proteins that regulate synthesis of enamel. Some of the genes and gene products that are likely associated with amelogenesis imperfecta are: amelogenin (AMELX, AMELY genes), ameloblastin (AMBN gene), enamelin (ENAM gene), enamelysin (MMP20 gene), kalikryn 4 (KLK 4 gene), tuftelins (Tuftelin gene), FAM83H (FAM83H gene) and WDR72 (WDR72 gene). Particular attention should be given by the dentist in recognition and correlation of phenotypes with genotypes, in order to diagnose quickly and accurately such a possible disease and to prevent or treat it easily and quickly. Modern dentistry should restore these lesions in order to guarantee aesthetics and functionality, usually in collaboration with a group of dentists.