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Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
Aránzazu Rossignoli, Ming-Mei Shang, Hanna Gladh, Christine Moessinger, Hassan Foroughi Asl, Husain Ahammad Talukdar, Oscar Franzén, Steffen Mueller, Johan L M Björkegren, Erika Folestad, Josefin Skogsberg
OBJECTIVE: Recently, poliovirus receptor-related 2 (Pvrl2) emerged as a top gene in a global gene expression study aiming to detect plasma cholesterol-responsive genes causally related to atherosclerosis regression in hypercholesterolemic mice. PVRL2 is an adherens junction protein implied to play a role in transendothelial migration of leukocytes, a key feature in atherosclerosis development. In this study, we investigated the effect of Pvrl2 deficiency on atherosclerosis development and transendothelial migration of leukocytes activity...
January 5, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
Raffaele Ferrari, Yunpeng Wang, Jana Vandrovcova, Sebastian Guelfi, Aree Witeolar, Celeste M Karch, Andrew J Schork, Chun C Fan, James B Brewer, Parastoo Momeni, Gerard D Schellenberg, William P Dillon, Leo P Sugrue, Christopher P Hess, Jennifer S Yokoyama, Luke W Bonham, Gil D Rabinovici, Bruce L Miller, Ole A Andreassen, Anders M Dale, John Hardy, Rahul S Desikan
BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap between FTD, AD and PD to assess shared pathobiology and identify novel genetic variants associated with increased risk for FTD. METHODS: Summary statistics were obtained from the International FTD Genomics Consortium, International PD Genetics Consortium and International Genomics of AD Project (n>75 000 cases and controls)...
February 2017: Journal of Neurology, Neurosurgery, and Psychiatry
Claudia Otto, René Scholtysik, Roland Schmitz, Markus Kreuz, Claudia Becher, Michael Hummel, Andreas Rosenwald, Lorenz Trümper, Wolfram Klapper, Reiner Siebert, Ralf Küppers
Chromosomal translocations involving an immunoglobulin (IG) locus and a proto-oncogene play a major role in diffuse large B-cell lymphoma (DLBCL) pathogenesis. Recurrent IG translocation partners in DLBCL are the BCL6, BCL2, and MYC genes, but other rare translocation partners are also known. We studied 20 DLBCL with fluorescence in situ hybridization-based evidence for IG heavy chain (IGH) locus-associated translocations not involving BCL6, BCL2, MALT1, or MYC by long distance inverse PCR to identify the translocation partners...
June 29, 2016: Genes, Chromosomes & Cancer
Mohsen Ghanbari, M Arfan Ikram, Hans W J de Looper, Albert Hofman, Stefan J Erkeland, Oscar H Franco, Abbas Dehghan
MicroRNAs (miRNAs) serve as key post-transcriptional regulators of gene expression. Genetic variation in miRNAs and miRNA-binding sites may affect miRNA function and contribute to disease risk. Here, we investigated the extent to which variants within miRNA-related sequences could constitute a part of the functional variants involved in developing Alzheimer's disease (AD), using the largest available genome-wide association study of AD. First, among 237 variants in miRNAs, we found rs2291418 in the miR-1229 precursor to be significantly associated with AD (p-value = 6...
2016: Scientific Reports
Y Yuan, P Wang, Y H Wu-Chou, X Q Ye, S Z Huang, B Shi, K Wang, Z Q Wang, D J Liu, Z F Wang, T Wu, H Wang
OBJECTIVE: To explore the association and gene-environment interaction between single nucleotide polymorphisms (SNPs) involved in cell-cell adhesion and non-syndromic cleft lip with or without cleft palate (NSCL/P) among Chinese population. METHODS: A total of 806 NSCL/P trios were drawn by an international consortium, which conducted a genome-wide association study (GWAS) using a case-parent trio design to investigate genes affecting risks to NSCL/P. The transmission disequilibrium test (TDT) was used to explore the association between cell-cell adhesion genes, including CDH1, CTNNB1, PVRL1, PVRL2, PVRL3, ACTN1, VCL, LEF1, and NSCL/P...
June 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Jenny Ortega-Rojas, Luis Morales, Esneyder Guerrero, Carlos E Arboleda-Bustos, Adriana Mejia, Diego Forero, Luis Lopez, Rodrigo Pardo, Gonzalo Arboleda, Juan Yunis, Humberto Arboleda
OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and GWA_14q32.13 in a Colombian sample of Late-Onset Alzheimer disease (LOAD) patients. METHODS: A case-control study was conducted in 362 individuals (181 LOADs and 181 controls) to determine the association of single-nucleotide polymorphisms in APOE (e2, e3, and e4), TOMM40 (rs2075650), CR1 (rs665640), PVRL2 (rs6859), SORL1 (rs11218304), PICALM (rs3851179), and GWA_14q32...
October 2016: Alzheimer Disease and Associated Disorders
Qianyi Xiao, Zhi-Jun Liu, Sha Tao, Yi-Min Sun, Deke Jiang, Hong-Lei Li, Haitao Chen, Xu Liu, Brittany Lapin, Chi-Hsiung Wang, S Lilly Zheng, Jianfeng Xu, Zhi-Ying Wu
More than 30 independent single-nucleotide polymorphisms (SNPs) have been associated with Alzheimer's disease (AD) risk by genome-wide association studies (GWAS) in European. We aimed to confirm these SNPs in Chinese Han and investigate the utility of these genetic markers. We randomly divided 459 sporadic AD (SAD) patients and 751 cognitively normal controls into two sets (discovery and testing). Thirty-three SAD risk-associated SNPs were firstly tested in the discovery set. Significant SNPs were used to calculate genetic risk score (GRS) in the testing set...
November 10, 2015: Oncotarget
Mohsen Ghanbari, Oscar H Franco, Hans W J de Looper, Albert Hofman, Stefan J Erkeland, Abbas Dehghan
BACKGROUND: Genome-wide association studies enabled us to discover a large number of variants and genomic loci contributing to cardiovascular and metabolic disorders. However, because the vast majority of the identified variants are thought to merely be proxies for other functional variants, the causal mechanisms remain to be elucidated. We hypothesized that the part of the functional variants involved in deregulating cardiometabolic genes is located in microRNA (miRNA)-binding sites...
June 2015: Circulation. Cardiovascular Genetics
Sandra L Laston, V Saroja Voruganti, Karin Haack, Vallabh O Shah, Arlene Bobelu, Jeanette Bobelu, Donica Ghahate, Antonia M Harford, Susan S Paine, Francesca Tentori, Shelley A Cole, Jean W MacCluer, Anthony G Comuzzie, Philip G Zager
The objective of this study is to identify genetic factors associated with chronic kidney disease (CKD) and related cardiometabolic phenotypes among participants of the Genetics of Kidney Disease in Zuni Indians study. The study was conducted as a community-based participatory research project in the Zuni Indians, a small endogamous tribe in rural New Mexico. We recruited 998 members from 28 extended multigenerational families, ascertained through probands with CKD who had at least one sibling with CKD. We used the Illumina Infinium Human1M-Duo version 3...
2015: Frontiers in Genetics
Jon Infante, Carlos Prieto, María Sierra, Pascual Sánchez-Juan, Isabel González-Aramburu, Coro Sánchez-Quintana, José Berciano, Onofre Combarros, Jesús Sainz
The commonest known cause of Parkinson's disease (PD) is the G2019S mutation of the LRRK2 gene, but this mutation is not sufficient for causing PD, and many carriers of the mutation never develop PD symptoms during life. Differences at the expression level of certain genes, resulting from either genetic variations or environmental interactions, might be one of the mechanisms underlying differential risks for developing both idiopathic and genetic PD. To identify the genes involved in PD pathogenesis, we compared genome-wide gene expression (RNA-seq) in peripheral blood of 20 PD patients carrying the G2019S mutation of the LRRK2 gene, 20 asymptomatic carriers of the mutation, 20 subjects with idiopathic PD, 20 controls and 7 PD patients before and after initiating dopaminergic therapy...
February 2015: Neurobiology of Aging
Giovanna Marchetti, Domenico Girelli, Carlotta Zerbinati, Barbara Lunghi, Simonetta Friso, Silvia Meneghetti, Matteo Coen, Teresa Gagliano, Giuseppe Guastella, Marie-Luce Bochaton-Piallat, Francesca Pizzolo, Francesco Mascoli, Giovanni Malerba, Matteo Bovolenta, Manuela Ferracin, Oliviero Olivieri, Francesco Bernardi, Nicola Martinelli
Data with border-line statistical significance, copiously generated in genome-wide association studies of coronary artery disease (CAD), could include functionally relevant associations. We propose an integrated genomic and transcriptomic approach for unravelling new potential genetic signatures of atherosclerosis. Fifteen among 91 single nucleotide polymorphisms (SNPs) were first selected for association in a sex- and age-adjusted model by examining 510 patients with CAD and myocardial infarction and 388 subjects with normal coronary arteries (CAD-free) in the replication stages of a genome-wide association study...
March 2015: Thrombosis and Haemostasis
Nicholas A Vitanza, Wafik Zaky, Roy Blum, Julia A Meyer, Jinhua Wang, Teena Bhatla, Debra J Morrison, Elizabeth A Raetz, William L Carroll
BACKGROUND: Ikaros, the product of IKZF1, is a regulator of lymphoid development and polymorphisms in the gene have been associated with the acute lymphoblastic leukemia (ALL). Additionally, IKZF1 deletions and mutations identify high-risk biological subsets of childhood ALL [Georgopoulos et al. Cell 1995;83(2):289-299; Mullighan et al. N Engl J Md 2009;360(5):470-480]. PROCEDURES: To discover the underlying pathways modulated by Ikaros we performed gene expression and gene ontology analysis in IKZF1 deleted primary B-ALL pediatric patient samples...
October 2014: Pediatric Blood & Cancer
Ronni Rômulo Novaes E Brito, Patricia Xander, Elizabeth C Pérez, Juliana T Maricato, Maria Fl Laurindo, Beatriz H P De Lorenzo, Renata Pellegrino, Viviane Bernardo, José Daniel Lopes, Mario Mariano
New Zealand Black X New Zealand White F1 [(NZB/NZW)F1] mice develop an autoimmune condition with similarities to human systemic lupus erythematosus (SLE). In this study, we demonstrate that B-1 cells, which have previously been reported to be involved in several autoimmune diseases, have altered gene expression in these mice. RNA was extracted from purified B-1 cells of disease-free C57BL/6 mice and lupus-prone (NZB/NZW)F1 mice. Gene expression was analysed using DNA microarray techniques and validated by real time reverse transcriptase polymerase chain reaction (RT-PCR)...
2014: Immunological Investigations
Iana H Haralambieva, Nathaniel D Lambert, Inna G Ovsyannikova, Richard B Kennedy, Beth R Larrabee, V Shane Pankratz, Gregory A Poland
BACKGROUND: Viral attachment and cell entry host factors are important for viral replication, pathogenesis, and the generation and sustenance of immune responses after infection and/or vaccination, and are plausible genetic regulators of vaccine-induced immunity. METHODS: Using a tag-SNP approach in candidate gene study, we assessed the role of selected cell surface receptor genes, attachment factor-related genes, along with other immune genes in the genetic control of immune response variations after live rubella vaccination in two independent study cohorts...
2014: PloS One
Fang Lu, Huaijin Guan, Bo Gong, Xiaoqi Liu, Rongrong Zhu, Yong Wang, Jingjing Qian, Tianqiu Zhou, Xiaoyan Lan, Pu Wang, Ying Lin, Shi Ma, He Lin, Xiong Zhu, Rong Chen, Xianjun Zhu, Yi Shi, Zhenglin Yang
PURPOSE: Human longevity results from a number of factors, including genetic background, favorable environmental, social factors and chance. In this study, we aimed to elucidate the association of human longevity with genetic variations in several major candidate genes in a Han Chinese population. METHODS: A case-control association study of 1015 long-lived individuals (aged 90 years or older) and 1725 younger controls (30-70 years old) was undertaken. Rs2075650 in TOMM40 was firstly genotyped using the ABI SNaPshot method in an initial cohort consisted of 597 unrelated long-lived individuals and 1275 younger controls enrolled from Sichuan...
2014: PloS One
Ayca Erbilgin, Nathan Siemers, Paul Kayne, Wen-pin Yang, Judith Berliner, Aldons J Lusis
OBJECTIVE: Endothelial cells are central to the initiation of atherosclerosis, yet there has been limited success in studying their gene expression in the mouse aorta. To address this, we developed a method for determining the global transcriptional changes that occur in the mouse endothelium in response to atherogenic conditions and applied it to investigate inflammatory stimuli. APPROACH AND RESULTS: We characterized a method for the isolation of endothelial cell RNA with high purity directly from mouse aortas and adapted this method to allow for the treatment of aortas ex vivo before RNA collection...
November 2013: Arteriosclerosis, Thrombosis, and Vascular Biology
Min Du, J'Nelle Young, Marc De Asis, Jane Cipollone, Calvin Roskelley, Yoshimi Takai, Peter K Nicholls, Peter G Stanton, Wanyin Deng, B Brett Finlay, A Wayne Vogl
Tubulobulbar complexes are cytoskeleton-related membrane structures that develop at sites of intercellular attachment in mammalian seminiferous epithelium. At apical junctions between Sertoli cells and spermatids, the structures internalize adhesion junctions and are a component of the sperm release mechanism. Here we explore the possibility that tubulobulbar complexes that form at the blood-testis barrier are subcellular machines that internalize basal junction complexes. Using electron microscopy, we confirmed that morphologically identifiable tight and gap junctions are present in basal tubulobulbar complexes in rats...
March 2013: Biology of Reproduction
Lin Wang, Juxiang Huang, Minghu Jiang, Hong Lin, Lianxiu Qi, Haizhen Diao
Studies were done on analysis of biological processes in the same high expression (fold change ≥2) activated PTHLH feedback-mediated cell adhesion gene ontology (GO) network of human hepatocellular carcinoma (HCC) compared with the corresponding low expression activated GO network of no-tumor hepatitis/cirrhotic tissues (HBV or HCV infection). Activated PTHLH feedback-mediated cell adhesion network consisted of anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolism, cell adhesion, cell differentiation, cell-cell signaling, G-protein-coupled receptor protein signaling pathway, intracellular transport, metabolism, phosphoinositide-mediated signaling, positive regulation of transcription, regulation of cyclin-dependent protein kinase activity, regulation of transcription, signal transduction, transcription, and transport in HCC...
2012: TheScientificWorldJournal
Mark W Logue, Matthew Schu, Badri N Vardarajan, Jacki Buros, Robert C Green, Rodney C P Go, Patrick Griffith, Thomas O Obisesan, Rhonna Shatz, Amy Borenstein, L Adrienne Cupples, Kathryn L Lunetta, M Daniele Fallin, Clinton T Baldwin, Lindsay A Farrer
OBJECTIVES: To evaluate the association of genetic variation with late-onset Alzheimer disease (AD) in African Americans, including genes implicated in recent genome-wide association studies of whites. DESIGN: We analyzed a genome-wide set of 2.5 million imputed markers to evaluate the genetic basis of AD in an African American population. SUBJECTS: Five hundred thirteen well-characterized African American AD cases and 496 cognitively normal African American control subjects...
December 2011: Archives of Neurology
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