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Genetic association

Mark A Frye, Euijung Ryu, Malik Nassan, Gregory D Jenkins, Ana C Andreazza, Jared M Evans, Susan L McElroy, Devin Oglesbee, W Edward Highsmith, Joanna M Biernacka
Converging genetic, postmortem gene-expression, cellular, and neuroimaging data implicate mitochondrial dysfunction in bipolar disorder. This study was conducted to investigate whether mitochondrial DNA (mtDNA) haplogroups and single nucleotide variants (SNVs) are associated with sub-phenotypes of bipolar disorder. MtDNA from 224 patients with Bipolar I disorder (BPI) was sequenced, and association of sequence variations with 3 sub-phenotypes (psychosis, rapid cycling, and adolescent illness onset) was evaluated...
September 30, 2016: Journal of Psychiatric Research
Jesse Mez, Jaeyoon Chung, Gyungah Jun, Joshua Kriegel, Alexandra P Bourlas, Richard Sherva, Mark W Logue, Lisa L Barnes, David A Bennett, Joseph D Buxbaum, Goldie S Byrd, Paul K Crane, Nilüfer Ertekin-Taner, Denis Evans, M Daniele Fallin, Tatiana Foroud, Alison Goate, Neill R Graff-Radford, Kathleen S Hall, M Ilyas Kamboh, Walter A Kukull, Eric B Larson, Jennifer J Manly, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard D Schellenberg, Kathryn L Lunetta, Lindsay A Farrer
INTRODUCTION: African Americans' (AAs) late-onset Alzheimer's disease (LOAD) genetic risk profile is incompletely understood. Including clinical covariates in genetic analyses using informed conditioning might improve study power. METHODS: We conducted a genome-wide association study (GWAS) in AAs employing informed conditioning in 1825 LOAD cases and 3784 cognitively normal controls. We derived a posterior liability conditioned on age, sex, diabetes status, current smoking status, educational attainment, and affection status, with parameters informed by external prevalence information...
October 19, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
Xiaoling Yuan, Zifeng Dong
BACKGROUND Ischemic stroke (IS) is a leading cause of disability and death and NOTCH3 as a gene related with cardiac-cerebral vascular disease plays a vital role in IS development. However, the reports about the effect of genetic variants in NOTCH3 gene on IS are still few. MATERIAL AND METHODS In order to explore the association between NOTCH3 polymorphisms and IS, 134 patients with IS and 115 controls were enrolled in this case-control study. Polymerase chain reaction was used to do the genotyping of polymorphisms...
October 22, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
G Kamkamidze, I Migriauli, D Razmadze, M Kochlamazashvili, K Mulkijanyan, M Butsashvili
The main objective of this investigation was to develop and pilot a real-time Polymerase Chain Reaction (rt-PCR) diagnostic system for rapid and simultaneous identification of pathogens with a particular emphasis on diarrheal disease diagnostics. The diarrheal diseases were selected as a target for the pilot because they constitute a primary public health priority in Georgia and worldwide. The product developed by our research team "Neo_PCR_Diagnostics" represents an original system for the identification of pathogens associated with gastrointestinal tract infections and diarrhea...
September 2016: Georgian Medical News
T Koiava, D Gonçalves, J Palmeira, K Arobelidze, M Tediashvili, L Akhvlediani, H Ferreira
Research describing the epidemiology of antibiotic resistant microbes is vital to the proactive development of new antimicrobial agents. In the last years, CTX-M extended-spectrum β-lactamases (ESBLs) have emerged worldwide and have replaced classical TEM and SHV-type ESBLs in many countries. CTX-M-15 is currently the most frequent, with a pandemic distribution, and its rapid spread is facilitated by incorporation of resistance genes in mobile genetic elements. The ESBL is efficacious in Gram-negative bacteria and thus closely associated with nosocomial environments, often colonizing the intestines, particularly in older and dependent patients...
September 2016: Georgian Medical News
Hilde de Kluiver, Jacobine E Buizer-Voskamp, Conor V Dolan, Dorret I Boomsma
We review the hypotheses concerning the association between the paternal age at childbearing and childhood psychiatric disorders (autism spectrum- and attention deficit/hyperactive disorder) and adult disorders (schizophrenia, bipolar-, obsessive-compulsive-, and major depressive disorder) based on epidemiological studies. Several hypotheses have been proposed to explain the paternal age effect. We discuss the four main-not mutually exclusive-hypotheses. These are the de novo mutation hypothesis, the hypothesis concerning epigenetic alterations, the selection into late fatherhood hypothesis, and the environmental resource hypothesis...
October 22, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Riin Tamm, Reedik Mägi, Roman Tremmel, Stefan Winter, Evelin Mihailov, Alenka Smid, Anja Möricke, Kathrin Klein, Martin Schrappe, Martin Stanulla, Richard Houlston, Richard Weinshilboum, Irena Mlinarič Raščan, Andres Metspalu, Lili Milani, Matthias Schwab, Elke Schaeffeler
Thiopurine-related hematotoxicity in paediatric acute lymphoblastic leukemia (ALL) and inflammatory bowel diseases has been linked to genetically defined variability in thiopurine S-methyltransferase (TPMT) activity. While gene testing of TPMT is being clinically implemented, it is unclear if additional genetic variation influences TPMT activity with consequences for thiopurine-related toxicity. To examine this possibility, we performed a genome-wide association study (GWAS) of red blood cell TPMT activity in 844 Estonian individuals and 245 paediatric ALL-cases...
October 22, 2016: Clinical Pharmacology and Therapeutics
Lijiang Ma, Wendy K Chung
Group 1 pulmonary hypertension or pulmonary arterial hypertension (PAH) is a rare disease characterized by proliferation and occlusion of small pulmonary arterioles, leading to progressive elevation of pulmonary artery pressure and pulmonary vascular resistance, and right ventricular failure. Historically it has been associated with a high mortality rate, although over the last decade, treatment has improved survival. PAH includes idiopathic PAH (IPAH), heritable PAH (HPAH), and PAH associated with certain medical conditions...
October 22, 2016: Journal of Pathology
Christian Parisod
Taking transposable elements into consideration in surveys of genetic and epigenetic variation remains challenging in species lacking a high-quality reference genome. Here, molecular techniques reducing genome complexity and specifically targeting restructuring and methylation changes in TE genome fractions are described. In particular, methyl-sensitive transposon display (MSTD) uses isoschizomers and PCR amplifications to assess the methylation environment of TE insertions. MSTD offers reliable insights into genome-wide epigenetic changes associated with TEs, especially when used together with similar techniques tracking random sequences...
2017: Methods in Molecular Biology
Alice Indini, Elisabetta Schiavello, Veronica Biassoni, Luca Bergamaschi, Maria Chiara Magni, Nadia Puma, Stefano Chiaravalli, Federica Pallotti, Ettore Seregni, Barbara Diletto, Emilia Pecori, Lorenza Gandola, Geraldina Poggi, Maura Massimino
To assess the long-term safety of administering growth hormone (GH) in patients with GH deficiency due to treatment for childhood medulloblastoma and primitive neuroectodermal tumor (PNET). Data were retrospectively retrieved on children receiving GH supplementation, assessing their disease-free and overall survival outcomes and risk of secondary malignancies using Kaplan-Meier and Cox models. Overall 65 children were consecutively collected from May 1981 to April 2013. All patients had undergone craniospinal irradiation (total dose 18-39 Gy), and subsequently received GH for a median (interquartile range, IQR) of 81 (50...
October 21, 2016: Journal of Neuro-oncology
Danielle Aberdein, John S Munday, Barbara Gandolfi, Keren E Dittmer, Richard Malik, Dorian J Garrick, Leslie A Lyons
British shorthair (BSH) kittens in multiple litters died as a result of a severe non-neoplastic lymphoproliferative disease that showed many similarities with human autoimmune lymphoproliferative syndrome (ALPS). Human ALPS is caused by inherited defects in FAS-mediated lymphocyte apoptosis and the possibility of similar defects was investigated in BSH cats. The whole genomes of two affected kittens were sequenced and compared to 82 existing cat genomes. Both BSH kittens had homozygous insertions of an adenine within exon 3 of the FAS-ligand gene...
October 21, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
Marion I Boldingh, Angelina H Maniaol, Cathrine Brunborg, Harald Weedon-Fekjær, Jan J G M Verschuuren, Chantal M E Tallaksen
OBJECTIVE: To study the risk of clinical onset of myasthenia gravis (MG) in pregnancy and during the first 6 months postpartum because an association between pregnancy or the postpartum period and the onset of autoimmune MG is widely assumed but not proven. METHODS: The design was a cross-sectional population-based cohort study of 2 MG cohorts (Norway and the Netherlands) with 1,038 healthy controls from Norway. Data were obtained on 246 women with MG (age at onset 15-45 years)...
October 21, 2016: Neurology
Paola G Ferrario, Inke R König
Genome-wide association studies are moving to genome-wide interaction studies, as the genetic background of many diseases appears to be more complex than previously supposed. Thus, many statistical approaches have been proposed to detect gene-gene (GxG) interactions, among them numerous information theory-based methods, inspired by the concept of entropy. These are suggested as particularly powerful and, because of their nonlinearity, as better able to capture nonlinear relationships between genetic variants and/or variables...
October 21, 2016: Briefings in Bioinformatics
Isaac Garrido-Benavent, Sergio Pérez-Ortega, Asunción de Los Ríos
Symbiotic associations between green algae (Chlorophyta) and fungi give rise to morphologically and eco-physiologically distinct entities, or so-called, lichens. In one of the most peculiar of these associations, the partners are species of the macroscopic genus Prasiola (Trebouxiophyceae) and the ascomycete Mastodia tessellata (Verrucariaceae). This is the only known case of a lichen symbiosis involving a foliose green alga. Despite intense research targeted at understanding the biology of this particular association, little is known about the genetic variability of its symbionts...
October 18, 2016: Molecular Phylogenetics and Evolution
Julie Grandbois, Sandhya Khurana, Kelly Graff, Phong Nguyen, Leah Meltz, T C Tai
Epinephrine is synthesized by the catecholamine biosynthetic enzyme, phenylethanolamine N-methyltransferase (PNMT), primarily in chromaffin cells of the adrenal medulla and secondarily in brainstem adrenergic neurons of the medulla oblongata. Epinephrine is an important neurotransmitter/neurohormone involved in cardiovascular regulation; however, overproduction is detrimental with negative outcomes such as cellular damage, cardiovascular dysfunction, and hypertension. Genetic mapping studies have linked elevated expression of PNMT to hypertension...
October 18, 2016: Neuroscience Letters
Min-Shu Hsieh, Hsuang Wang, Yi-Hsuan Lee, Jenq-Yuh Ko, Yih-Leong Chang
Hyalinizing clear cell carcinoma (HCCC) is a rare salivary gland tumor with a specific EWSR1-ATF1 fusion gene and can have mucin production. Mucoepidermoid carcinoma (MEC) with a clear cell component is its morphologic mimic. Using MAML2 fluorescence in situ hybridization (FISH), a total of 49 MEC cases were separated into MAML2 fusion-positive (32 cases) and MAML2 fusion-negative groups (17 cases). This study used EWSR1 FISH to investigate MAML2 fusion-negative cases to identify previously unrecognized HCCC...
October 18, 2016: Human Pathology
Jia Cheng, XiaoFeng Guo, Tian Zhang, Li Zhong, GuoJun Bu, XiaoFen Chen
Triggering receptor expressed on myeloid cells (TREMs) receptors constitute a family modulators in human innate immunity system that encode by a gene cluster. Rare variants in TREM2 were reported to be associated with significant Alzheimer's disease (AD) risk. However, inconsistent results were also reported in some studies of Non-European descents. Recently, the other TREM family members are also considered to involve in AD and cerebrospinal fluid (CSF) soluble form of TREM2 (sTREM2) levels has also been associated with respond to progression of disease...
October 18, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Ron Bochner, Liat Samuelov, Ofer Sarig, Qiaoli Li, Christopher A Adase, Ofer Isakov, Natalia Malchin, Dan Vodo, Ronna Shayevitch, Alon Peled, Benjamin D Yu, Gilad Fainberg, Emily Warshauer, Noam Adir, Noam Erez, Andrea Gat, Yehonatan Gottlieb, Tova Rogers, Mor Pavlovsky, Ilan Goldberg, Noam Shomron, Aileen Sandilands, Linda E Campbell, Stephanie MacCallum, W H Irwin McLean, Gil Ast, Richard L Gallo, Jouni Uitto, Eli Sprecher
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with 2 forms of ichthyosis, autosomal recessive congenital ichthyosis and harlequin ichthyosis...
October 18, 2016: Journal of Investigative Dermatology
L Baila-Rueda, A Cenarro, I Lamiquiz-Moneo, R Mateo-Gallego, A M Bea-Sanz, S Perez-Calahorra, V Marco-Benedi, F Civeira
Some oxysterols are precursors of bile acid synthesis and play an important role in cholesterol homeostasis. However, if they are involved in the pathogeny of genetic hypercholesterolemia has not been previously explored. We have studied non-cholesterol sterol markers of cholesterol synthesis (lanosterol and desmosterol) and oxysterols (7α-hydroxy-4-cholesten-3-one, 24S-hydroxycholesterol and 27-hydroxycholesterol) in 200 affected subjects with primary hypercholesterolemia of genetic origin, negative for mutations in LDLR, APOB, PCSK9 and APOE genes (non-FH GH) and 100 normolipemic controls...
October 18, 2016: Journal of Steroid Biochemistry and Molecular Biology
A-Mei Zhang, Cheng-Lin Zhang, Yuzhu Song, Ping Zhao, Yue Feng, Binghui Wang, Zheng Li, Li Liu, Xueshan Xia
OBJECTIVES: About 2% of the world population infected with Hepatitis C virus (HCV), which was one of the main reasons for hepatic cirrhosis and hepatocellular carcinoma. Recently, NPC1L1 was identified to be an important factor for HCV entry into host cells. Whether genetic variations of the NPC1L1 gene were associated with HCV-infection was unknown. METHODS: In this study, we analyzed five single nucleotide polymorphisms (SNPs) of the NPC1L1 gene in 261 HCV-infected individuals and 265 general controls from Yunnan Province, China...
October 18, 2016: International Journal of Infectious Diseases: IJID
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