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Şehime Gülsün Temel, Mahmut Çerkez Ergören
OBJECTIVE: Recent genome-wide association studies have established that polymorphisms within CDKN2B-AS1 of chr9p21.3 locus increased susceptibility to coronary artery disease (CAD) or myocardial infarction. Common variants of CDKN2B-AS1 (including rs4977574 A>G and rs1333040 C>T) are determined to be directly associated with CADs in many populations worldwide and suggested biomarkers for the early detection of CAD. There is a lack of investigation for the association between CDKN2B-AS1 rs4977574 A>G and rs1333040 C>T genetic modifiers and CAD in a Turkish Cypriot population...
December 7, 2018: Anatolian Journal of Cardiology
Valentina Lo Sardo, Pavel Chubukov, William Ferguson, Aditya Kumar, Evan L Teng, Michael Duran, Lei Zhang, Gregory Cost, Adam J Engler, Fyodor Urnov, Eric J Topol, Ali Torkamani, Kristin K Baldwin
The 9p21.3 cardiovascular disease locus is the most influential common genetic risk factor for coronary artery disease (CAD), accounting for ∼10%-15% of disease in non-African populations. The ∼60 kb risk haplotype is human-specific and lacks coding genes, hindering efforts to decipher its function. Here, we produce induced pluripotent stem cells (iPSCs) from risk and non-risk individuals, delete each haplotype using genome editing, and generate vascular smooth muscle cells (VSMCs). Risk VSMCs exhibit globally altered transcriptional networks that intersect with previously identified CAD risk genes and pathways, concomitant with aberrant adhesion, contraction, and proliferation...
December 6, 2018: Cell
Rishu Agarwal, Yih-Chih Chan, Constantine S Tam, Tane Hunter, Dane Vassiliadis, Charis E Teh, Rachel Thijssen, Paul Yeh, Stephen Q Wong, Sarah Ftouni, Enid Y N Lam, Mary Ann Anderson, Christiane Pott, Omer Gilan, Charles C Bell, Kathy Knezevic, Piers Blombery, Kathleen Rayeroux, Adrian Zordan, Jason Li, David C S Huang, Meaghan Wall, John F Seymour, Daniel H D Gray, Andrew W Roberts, Mark A Dawson, Sarah-Jane Dawson
Ibrutinib plus venetoclax is a highly effective combination in mantle cell lymphoma. However, strategies to enable the evaluation of therapeutic response are required. Our prospective analyses of patients within the AIM study revealed genomic profiles that clearly dichotomized responders and nonresponders. Mutations in ATM were present in most patients who achieved a complete response, while chromosome 9p21.1-p24.3 loss and/or mutations in components of the SWI-SNF chromatin-remodeling complex were present in all patients with primary resistance and two-thirds of patients with relapsed disease...
November 19, 2018: Nature Medicine
Ke-Ting Que, Yun Zhou, Yu You, Zhen Zhang, Xiao-Ping Zhao, Jian-Ping Gong, Zuo-Jin Liu
BACKGROUND: MicroRNAs (miRNAs) posttranscriptionally regulate gene expression and thereby contribute to the modulation of numerous complex and disease-relevant cellular processes, including cell proliferation, cell motility, apoptosis and stress response. miRNA-31-5p is encoded on a genomic fragile site, 9p21.3, which is reportedly lost in many hepatocellular carcinoma (HCC) tumors. Based on previous findings, we hypothesized that miR-31-5p alters chemosensitivity and that miR-31-5p mimics may influence sensitivity to chemotherapeutics in HCC as well as in a variety of other cancers...
November 6, 2018: Journal of Experimental & Clinical Cancer Research: CR
Atieh Mirzababaei, Mehdi Mollahosseini, Mohammad Hossein Rahimi, Mir Saeed Yekaninejad, Zhila Maghbooli, Reza Sobhani, Khadijeh Mirzaei
Background: Genome-wide association studies have shown that risk alleles on chromosome 9p21.3 locus, are associated with increasing the risk of cardiovascular diseases (CVDs). Several epidemiological studies have found that metabolic syndrome (MetS) is associated with CVDs. Dietary antioxidants also have shown to have potential favorable effects on MetS prevention. This study examined the interactions between rs1333048 genotypes on 9p21 genetic region and Total antioxidant capacity (TAC) on odds of MetS...
2018: Diabetology & Metabolic Syndrome
Cristina Giuliani, Paolo Garagnani, Claudio Franceschi
Human longevity is a complex trait, and to disentangle its basis has a great theoretical and practical consequences for biomedicine. The genetics of human longevity is still poorly understood despite several investigations that used different strategies and protocols. Here, we argue that such rather disappointing harvest is largely because of the extraordinary complexity of the longevity phenotype in humans. The capability to reach the extreme decades of human lifespan seems to be the result of an intriguing mixture of gene-environment interactions...
September 14, 2018: Circulation Research
Kent D Taylor, Xiuqing Guo, Linda M Zangwill, Jeffrey M Liebmann, Christopher A Girkin, Robert M Feldman, Harvey Dubiner, Yang Hai, Brian C Samuels, Joseph F Panarelli, John P Mitchell, Lama A Al-Aswad, Sung Chul Park, Celso Tello, Jeremy Cotliar, Rajendra Bansal, Paul A Sidoti, George A Cioffi, Dana Blumberg, Robert Ritch, Nicholas P Bell, Lauren S Blieden, Garvin Davis, Felipe A Medeiros, Swapan K Das, Jasmin Divers, Carl D Langefeld, Nicholette D Palmer, Barry I Freedman, Donald W Bowden, Maggie C Y Ng, Yii-Der Ida Chen, Radha Ayyagari, Jerome I Rotter, Robert N Weinreb
PURPOSE: To find genetic contributions to glaucoma in African Americans. DESIGN: Cross-sectional, case-control study. PARTICIPANTS: One thousand eight hundred seventy-five primary open-angle glaucoma (POAG) patients and 1709 controls, self-identified as being of African descent (AD), from the African Descent and Glaucoma Evaluation Study (ADAGES) III and Wake Forest School of Medicine. METHODS: MegaChip genotypes were imputed to Thousand Genomes data...
October 21, 2018: Ophthalmology
Daniele Fanoni, Laura Corti, Silvia Alberti-Violetti, Cornelis P Tensen, Luigia Venegoni, Maarten Vermeer, Rein Willemze, Emilio Berti
Primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma (pcAECyTCL) is a rare provisionally categorized cutaneous lymphoma characterized by an aggressive course. Its pathogenesis and molecular mechanisms are still unknown, and only two individual cases have so far been molecularly characterized. The aim of this study was to define the pattern of numerical chromosomal alterations in tumor samples taken from 20 patients with pcAECyTCL at the time of diagnosis by means of array-comparative genomic hybridization (a-CGH)...
December 2018: Genes, Chromosomes & Cancer
Sabrina Rossi, Monica Brenca, Lucia Zanatta, Elena Trincia, Angela Guerriero, Cristina Pizzato, Alessandro Fiorindi, Elisabetta Viscardi, Felice Giangaspero, Roberta Maestro, Angelo Paolo Dei Tos, Caterina Giannini
SMARCB1 inactivation is a well-established trigger event in atypical teratoid/rhabdoid tumor. Recently, a role for SMARCB1 inactivation has emerged as a mechanism of clonal evolution in other tumor types, including rare brain tumors. We describe an unusual malignant intra-axial SMARCB1-deficient spindle cell desmoplastic neoplasm, occurring in a 6-year-old child with meningioangiomatosis and a long history of seizures. Striking features of the tumor were a storiform pattern and strong CD34 expression. Undifferentiated round cell areas with isolated rhabdoid cells showing high mitotic index and focal necrosis with INI1 expression loss were present...
October 1, 2018: Journal of Neuropathology and Experimental Neurology
M C Barros-Filho, L A Reis-Rosa, M Hatakeyama, F A Marchi, T Chulam, C Scapulatempo-Neto, U R Nicolau, A L Carvalho, C A L Pinto, S A Drigo, L P Kowalski, S R Rogatto
OBJECTIVES: To identify potential molecular drivers associated with prognosis and response to treatment in advanced oropharyngeal squamous cell carcinomas (OPSCC). MATERIALS AND METHODS: Thirty-three OPSCC biopsies from untreated Brazilian patients were evaluated for human papilloma virus genotyping, genome wide copy number alterations and gene expression profiling. Data were integrated using CONEXIC algorithm. Validation with TCGA dataset and confirmation by RT-qPCR of candidate genes were performed...
August 2018: Oral Oncology
Zhijun Wu, Haihui Sheng, Xiuxiu Su, Xiang Gao, Lin Lu, Wei Jin
Background: Previous genome-wide association studies revealed that the chromosome 9p21.3 locus is associated with an increased risk of myocardial infarction (MI) and diabetes mellitus (DM). However, it is unclear whether the 9p21.3-MI association is direct or mediated by pathways related to DM. Study Design: We applied mediation analysis to examine the potential mediating effect of DM on the association between the 9p21.3 genetic risk score (GRS; ranged from 0 to 8) and MI in a case-control study of 865 MI patients and 927 controls without coronary artery disease (CAD)...
2018: Frontiers in Endocrinology
Federico Rotolo, Chang-Qi Zhu, Elisabeth Brambilla, Stephen L Graziano, Ken Olaussen, Thierry Le-Chevalier, Jean-Pierre Pignon, Robert Kratzke, Jean-Charles Soria, Frances A Shepherd, Lesley Seymour, Stefan Michiels, Ming-Sound Tsao
Background: Adjuvant chemotherapy (ACT) provides modest benefit in resected non-small cell lung cancer (NSCLC) patients. Genome-wide studies have identified gene copy number aberrations (CNA), but their prognostic implication is unknown. Methods: DNA from 1,013 FFPE tumor samples from three pivotal multicenter randomized trials (ACT vs. control) in the LACE-Bio consortium (median follow-up: 5.2 years) was successfully extracted, profiled using a molecular inversion probe SNP assay, normalized relative to a pool of normal tissues and segmented...
June 2018: Translational Lung Cancer Research
Shai Rosenberg, Francois Ducray, Agusti Alentorn, Caroline Dehais, Nabila Elarouci, Aurelie Kamoun, Yannick Marie, Marie-Laure Tanguy, Aurélien De Reynies, Karima Mokhtari, Dominique Figarella-Branger, Jean-Yves Delattre, Ahmed Idbaih
BACKGROUND: 1p/19q-codeleted anaplastic gliomas have variable clinical behavior. We have recently shown that the common 9p21.3 allelic loss is an independent prognostic factor in this tumor type. The aim of this study is to identify less frequent genomic copy number variations (CNVs) with clinical importance that may shed light on molecular oncogenesis of this tumor type. MATERIALS AND METHODS: A cohort of 197 patients with anaplastic oligodendroglioma was collected as part of the French POLA network...
July 17, 2018: Oncologist
Melissa Bersanelli, Letizia Gnetti, Cinzia Azzoni, Lorena Bottarelli, Nicola Sverzellati, Nicoletta Campanini, Elena Varotti, Michele Corrado, Raffaele Parziale, Elena Rapacchi, Giuseppe Caruso, Francesco Leonardi, Enrico Maria Silini, Sebastiano Buti
AIM: We studied the possible clinical significance of loss of heterozygosity (LOH) at key tumor suppressor genes loci in advanced renal cancer patients treated with nivolumab. METHODS: LOH study was performed on 3p14.2 (FHIT gene); 3p21.3-21.2; 9p21 (BDMF gene); 9p22 (SH3GL2 gene). RESULTS: Of 12 patients, 8 (67%) had LOH. The most affected gene was FHIT. All five patients with LOH at FHIT locus had good outcome, mean progression free survival of 6...
July 2018: Immunotherapy
Tove Fall, Stefan Gustafsson, Marju Orho-Melander, Erik Ingelsson
AIMS/HYPOTHESIS: Coronary artery disease (CAD) is a common complication among individuals with diabetes. A better understanding of the genetic background of CAD in this population has the potential to suggest novel molecular targets for screening, risk assessment and drug development. METHODS: We performed a genome-wide association study of CAD in 15,666 unrelated individuals (3,968 CAD cases and 11,698 controls) of white British ancestry with diabetes at inclusion in the UK Biobank study...
July 12, 2018: Diabetologia
Jinyoung Byun, Ann G Schwartz, Christine Lusk, Angela S Wenzlaff, Mariza de Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Ming You, Elena Y Kupert, Marshall W Anderson, Younghun Han, Yafang Li, David Qian, Adrienne Stilp, Cathy Laurie, Sarah Nelson, Wenying Zheng, Rayjean J Hung, Valerie Gaborieau, James Mckay, Paul Brennan, Neil E Caporaso, Maria Teresa Landi, Xifeng Wu, John R McLaughlin, Yonathan Brhane, Yohan Bossé, Susan M Pinney, Joan E Bailey-Wilson, Christopher I Amos
To identify genetic variation associated with lung cancer risk, we performed a genome-wide association analysis of 685 lung cancer cases that had a family history of two or more first or second degree relatives compared with 744 controls without lung cancer that were genotyped on an Illumina Human OmniExpressExome-8v1 array. To ensure robust results, we further evaluated these findings using data from six additional studies that were assembled through the Transdisciplinary Research on Cancer of the Lung Consortium comprising 1993 familial cases and 33 690 controls...
September 21, 2018: Carcinogenesis
B Sun, J H Moon, Q Cai, R Rerknimitr, S Ma, S Lakhtakia, S Ryozawa, H Kutsumi, I Yasuda, H Shiomi, X Li, W Li, X Zhang, T Itoi, H-P Wang, D Qian, J Y Wong Lau, Z Yang, M Ji, B Hu
BACKGROUND: Pre-operative tissue diagnosis for suspected malignant biliary strictures remains challenging. AIM: To develop evidence-based consensus statements on endoscopic tissue acquisition for biliary strictures. METHODS: The initial draft of statements was prepared following a systematic literature review. A committee of 20 experts from Asia-Pacific region then reviewed, discussed, and modified the statements. Two rounds of independent voting were conducted to reach a final version...
July 2018: Alimentary Pharmacology & Therapeutics
Ghazal Aarabi, Tanja Zeller, Guido Heydecke, Matthias Munz, Arne Schäfer, Udo Seedorf
Periodontitis (PD) is a common gingival infectious disease caused by an over-aggressive inflammatory reaction to dysbiosis of the oral microbiome. The disease induces a profound systemic inflammatory host response, that triggers endothelial dysfunction and pro-thrombosis and thus may aggravate atherosclerotic vascular disease and its clinical complications. Recently, a risk haplotype at the ANRIL / CDKN2B-AS1 locus on chromosome 9p21.3, that is not only associated with coronary artery disease / myocardial infarction (CAD/MI) but also with PD, could be identified by genome-wide association studies...
2018: Frontiers in Cardiovascular Medicine
Tarja Kunnas, Jaakko Piesanen, Seppo T Nikkari
AIMS: Chromosome locus 9p21.3 CDKN2B antisense RNA 1 (CDKN2B-AS1) has been found to contain multiple genetic markers for coronary artery disease (CAD) by genome-wide association studies (GWAS). Of these, the association of variants rs4977574, rs10757274, and rs2383206 with hypertension was studied in the Tampere adult population cardiovascular risk study (TAMRISK). MATERIALS AND METHODS: A Finnish cohort of 336 subjects diagnosed with hypertension and 444 controls was analyzed...
May 2018: Genetic Testing and Molecular Biomarkers
S M Amin, A M Haugh, J A Bubley, A E Verzì, E A Merkel, C Y Lee, V L Quan, E M Garfield, L M Sholl, B Zhang, P Gerami
BACKGROUND: Clonal naevi are characterized by a focal proliferation of pigmented melanocytes in an otherwise banal naevus. These subclones are often composed of aggregates of larger, epithelioid melanocytes with nuclear atypia and dusty-grey cytoplasmic pigmentation, which are referred to as 'pulverocytes', and this finding may lead to a misdiagnosis of malignant melanoma (MM). AIM: To characterize the significance of subclones of dusty-grey pigmented epithelioid melanocytes within spitzoid neoplasms...
October 2018: Clinical and Experimental Dermatology
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