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Phuwanat Sakornsakolpat, Jarrett D Morrow, Peter J Castaldi, Craig P Hersh, Yohan Bossé, Edwin K Silverman, Ani Manichaikul, Michael H Cho
BACKGROUND: Genome-wide association studies have identified several genetic risk loci for severe chronic obstructive pulmonary disease (COPD) and emphysema. However, these studies do not fully explain disease heritability and in most cases, fail to implicate specific genes. Integrative methods that combine gene expression data with GWAS can provide more power in discovering disease-associated genes and give mechanistic insight into regulated genes. METHODS: We applied a recently described method that imputes gene expression using reference transcriptome data to genome-wide association studies for two phenotypes (severe COPD and quantitative emphysema) and blood and lung tissue gene expression datasets...
March 22, 2018: Respiratory Research
S F Rinaldi, S Makieva, P T Saunders, A G Rossi, J E Norman
STUDY QUESTION: Is labour, both at term and preterm, associated with alterations in decidual lymphocyte densities and widespread changes to the decidual transcriptome? SUMMARY ANSWER: The onset of parturition, both at term and preterm, is associated with widespread gene expression changes in the decidua, many of which are related to inflammatory signalling, but is not associated with changes in the number of any of the decidual lymphocyte populations examined. WHAT IS KNOWN ALREADY: Given its location, directly at the maternal-foetal interface, the decidua is likely to play a pivotal role in the onset of parturition, however, the molecular events occurring in the decidua in association with the onset of labour, both at term and preterm, remain relatively poorly defined...
October 1, 2017: Molecular Human Reproduction
Ashley Stanley, C K Ponde, R M Rajani, T F Ashavaid
OBJECTIVE: To examine the association between loci linked to high-density lipoprotein cholesterol (HDL-C) levels and coronary artery disease (CAD). METHODS: A pilot study consisting of age-matched and gender-matched angiographically confirmed CAD cases (n=150) and non-CAD controls (n=150) was performed to test an association. Illumina's Human Cardio-Metabo BeadChip containing 3112 variants associated with HDL-C levels was used for genotyping. RESULTS: A preliminary analysis identified 36 variants from 16 genes that were statistically significant (p<0...
2017: Heart Asia
Gerrit Ahrenstorf, Hui Zhi Low, Katja Kniesch, David Ordonez, Dirk Meyer-Olson, Fareed Ahmad, Claudia Kücherer, Barbara Gunsenheimer-Bartmeyer, Matthias Stoll, Torsten Matthias, Reinhold E Schmidt, Torsten Witte
OBJECTIVE: The aim of this study is to analyse the influence of LILRA3 and the genetic leukocyte immunoglobulin-like receptor 3 (LILRA3) deletion on transmission and clinical course of HIV infection. DESIGN: Case and control study. METHODS: LILRA3 genotypes were determined by PCR. HIV patients were categorized into short-term progressors, normal progressors and long-term nonprogressors according to the clinical course. Functional studies were performed using real-time PCR, intracellular flow cytometry and ELISA...
January 2, 2017: AIDS
Ana Márquez, Tamara Fernández-Aranguren, Torsten Witte, Miguel A González-Gay, Javier Martín
No abstract text is available yet for this article.
September 2016: Clinical and Experimental Rheumatology
M R López-Álvarez, W Jiang, D C Jones, J Jayaraman, C Johnson, W O Cookson, M F Moffatt, J Trowsdale, J A Traherne
Leukocyte immunoglobulin-like receptors (LILR) are expressed mostly on myelomonocytic cells where they are mediators of immunological tolerance. Two LILR genes, LILRA3 and LILRA6, exhibit marked copy number variation. We assessed the contribution of these genes to atopic dermatitis (AD) by analysing transmission in 378 AD families. The data indicated that copies of LILRA6 were over-transmitted to affected patients. They are consistent with a contribution of LILR genes to AD. They could affect the equilibrium between activating and inhibitory signals in the immune response...
October 2016: Immunogenetics
Hui Zhi Low, Gerrit Ahrenstorf, Claudia Pommerenke, Nadine Habermann, Klaus Schughart, David Ordóñez, Renata Stripecke, Esther Wilk, Torsten Witte
BACKGROUND: LILRA3 is an immunostimulatory molecule which can conditionally induce the proliferation of cytotoxic cells. LILRA3 has a deletion genotype which is associated with multiple immune disorders. In this study, we wanted to analyze the regulation of LILRA3 and its significance in the context of HIV infection. RESULTS: We analyzed a panel of TLR agonists and found that ssRNA40, a TLR8 agonist, is a potent inducer of LILRA3 in healthy individuals. However, this regulation is much diminished in HIV...
March 12, 2016: Retrovirology
Hongyan An, Chai Lim, Gilles J Guillemin, Ute Vollmer-Conna, William Rawlinson, Katherine Bryant, Nicodemus Tedla
Leukocyte immunoglobulin-like receptor A3 (LILRA3) is a soluble immune regulatory molecule primarily expressed by monocytes and macrophages. A homozygous 6.7kbp LILRA3 gene deletion that removes the first seven of its eight exons is predicted to lead to lack of LILRA3 protein, although this has not been experimentally confirmed. Moreover, there are conflicting results with regards to the link between the LILRA3 homozygous genetic deletion and susceptibility to multiple sclerosis (MS) in different European populations...
2016: PloS One
Hongyan An, Merryn Brettle, Terry Lee, Benjamin Heng, Chai K Lim, Gilles J Guillemin, Megan S Lord, Enrico Klotzsch, Carolyn L Geczy, Katherine Bryant, Thomas Fath, Nicodemus Tedla
Inhibitory proteins, particularly Nogo 66, a highly conserved 66-amino-acid loop of Nogo A (an isoform of RTN4), play key roles in limiting the intrinsic capacity of the central nervous system (CNS) to regenerate after injury. Ligation of surface Nogo receptors (NgRs) and/or leukocyte immunoglobulin-like receptor B2 (LILRB2) and its mouse orthologue the paired immunoglobulin-like receptor B (PIRB) by Nogo 66 transduces inhibitory signals that potently inhibit neurite outgrowth. Here, we show that soluble leukocyte immunoglobulin-like receptor A3 (LILRA3) is a high-affinity receptor for Nogo 66, suggesting that LILRA3 might be a competitive antagonist to these cell surface inhibitory receptors...
March 15, 2016: Journal of Cell Science
Miguel A Ortiz, Concepción Núñez, David Ordóñez, José C Alvarez-Cermeño, José E Martínez-Rodriguez, Antonio J Sánchez, Rafael Arroyo, Guillermo Izquierdo, Sunny Malhotra, Xavier Montalban, Antonio García-Merino, Elvira Munteis, Antonio Alcina, Manuel Comabella, Fuencisla Matesanz, Luisa M Villar, Elena Urcelay
BACKGROUND: Multiple sclerosis (MS) is a neurodegenerative, autoimmune disease of the central nervous system. Genome-wide association studies (GWAS) have identified over hundred polymorphisms with modest individual effects in MS susceptibility and they have confirmed the main individual effect of the Major Histocompatibility Complex. Additional risk loci with immunologically relevant genes were found significantly overrepresented. Nonetheless, it is accepted that most of the genetic architecture underlying susceptibility to the disease remains to be defined...
2015: PloS One
Kouyuki Hirayasu, Hisashi Arase
Human leukocyte immunoglobulin-like receptors (LILR) are a family of 11 functional genes encoding five activating (LILRA1, 2, 4-6), five inhibitory (LILRB1-5) and one soluble (LILRA3) form. The number of LILR genes is conserved among individuals, except for LILRA3 and LILRA6, which exhibit copy-number variations. The LILR genes are rapidly evolving and showing large interspecies differences, making it difficult to analyze the functions of LILR using an animal model. LILRs are expressed on various cells such as lymphoid and myeloid cells and the expression patterns are different from gene to gene...
November 2015: Journal of Human Genetics
Paul A Renauer, Guher Saruhan-Direskeneli, Patrick Coit, Adam Adler, Kenan Aksu, Gokhan Keser, Fatma Alibaz-Oner, Sibel Z Aydin, Sevil Kamali, Murat Inanc, Simon Carette, David Cuthbertson, Gary S Hoffman, Servet Akar, Fatos Onen, Nurullah Akkoc, Nader A Khalidi, Curry Koening, Omer Karadag, Sedat Kiraz, Carol A Langford, Kathleen Maksimowicz-McKinnon, Carol A McAlear, Zeynep Ozbalkan, Askin Ates, Yasar Karaaslan, Nursen Duzgun, Paul A Monach, Huseyin T E Ozer, Eren Erken, Mehmet A Ozturk, Ayten Yazici, Ayse Cefle, Ahmet Mesut Onat, Bunyamin Kisacik, Christian Pagnoux, Timucin Kasifoglu, Emire Seyahi, Izzet Fresko, Philip Seo, Antoine G Sreih, Kenneth J Warrington, Steven R Ytterberg, Veli Cobankara, Deborah S Cunninghame-Graham, Timothy J Vyse, Omer N Pamuk, S Ercan Tunc, Ediz Dalkilic, Muge Bicakcigil, Sibel P Yentur, Jonathan D Wren, Peter A Merkel, Haner Direskeneli, Amr H Sawalha
OBJECTIVE: Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis. METHODS: Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry...
May 2015: Arthritis & Rheumatology
Yan Du, Yin Su, Jing He, Yue Yang, Yamei Shi, Yong Cui, Cainan Luo, Xinyu Wu, Xu Liu, Fanlei Hu, Xiaoxu Ma, Li Zheng, Jing Zhang, Xianbo Zuo, Yujun Sheng, Lijun Wu, Xuejun Zhang, Jianping Guo, Zhanguo Li
BACKGROUND: Recently, our research group identified the non-deleted (functional) leucocyte immunoglobulin-like receptor A3 (LILRA3) as a new genetic risk for rheumatoid arthritis. OBJECTIVES: To further investigate whether the functional LILRA3 is a new susceptibility factor for other autoimmune diseases-for example, systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS). METHODS: The LILRA3 deletion polymorphism and its tagging single nucleotide polymorphism rs103294 were genotyped for 1099 patients with SLE, 403 patients with pSS and 2169 healthy controls...
November 2015: Annals of the Rheumatic Diseases
Roshni R Singaraja, Ian Tietjen, G Kees Hovingh, Patrick L Franchini, Chris Radomski, Kenny Wong, Margaret vanHeek, Ioannis M Stylianou, Linus Lin, Liangsu Wang, Lyndon Mitnaul, Brian Hubbard, Michael Winther, Maryanne Mattice, Annick Legendre, Robin Sherrington, John J Kastelein, Karen Akinsanya, Andrew Plump, Michael R Hayden
While genetic determinants strongly influence HDL cholesterol (HDLc) levels, most genetic causes underlying variation in HDLc remain unknown. We aimed to identify novel rare mutations with large effects in candidate genes contributing to extreme HDLc in humans, utilizing family-based Mendelian genetics. We performed next-generation sequencing of 456 candidate HDLc-regulating genes in 200 unrelated probands with extremely low (≤10th percentile) or high (≥90th percentile) HDLc. Probands were excluded if known mutations existed in the established HDLc-regulating genes ABCA1, APOA1, LCAT, cholesteryl ester transfer protein (CETP), endothelial lipase (LIPG), and UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2)...
August 2014: Journal of Lipid Research
Yan Du, Yong Cui, Xia Liu, Fanlei Hu, Yue Yang, Xinyu Wu, Xu Liu, Xiaoxu Ma, Xianbo Zuo, Yujun Sheng, Xiangyuan Liu, Jianhua Xu, Ping Zhu, Lingyun Sun, Nan Hong, Xuejun Zhang, Jianping Guo, Zhanguo Li
OBJECTIVE: Leukocyte immunoglobulin-like receptor A3 belongs to a family of receptors with inhibitory or activating functions. Since Caucasian individuals lacking LILRA3 have been found to be susceptible to multiple sclerosis and Sjögren's syndrome, we undertook this study to examine whether LILRA3 deletion is a novel genetic risk factor for rheumatoid arthritis (RA) (another autoimmune disease), whether there are sex-specific effects, and whether LILRA3 influences the subtype and severity of RA...
April 2014: Arthritis & Rheumatology
Hui Zhi Low, Sandra Reuter, Michael Topperwien, Nadine Dankenbrink, Dietrich Peest, Gamze Kabalak, Renata Stripecke, Reinhold E Schmidt, Torsten Matthias, Torsten Witte
LILRA3 is the sole soluble member of the LILR family. Previous studies from our group had shown that a 6.7 kb genetic deletion of LILRA3 is associated with MS and Sjögren's syndrome. An impairment of the immune response leads to a predisposition for B-NHL, so we wanted to study whether the deletion of LILRA3 is also a risk factor for B-NHL, as well as the function of LILRA3. We discovered that the frequency of the homozygous LILRA3 deletion was significantly higher in B-NHL (6%) than in blood donors (3%) (P = 0...
2013: PloS One
María R López-Álvarez, Des C Jones, Wei Jiang, James A Traherne, John Trowsdale
Leukocyte immunoglobulin-like receptors (LILR) are cell surface molecules that regulate the activities of myelomonocytic cells through the balance of inhibitory and activation signals. LILR genes are located within the leukocyte receptor complex (LRC) on chromosome 19q13.4 adjacent to KIR genes, which are subject to allelic and copy number variation (CNV). LILRB3 (ILT5) and LILRA6 (ILT8) are highly polymorphic receptors with similar extracellular domains. LILRB3 contains inhibitory ITIM motifs and LILRA6 is coupled to an adaptor with activating ITAM motifs...
February 2014: Immunogenetics
Terry H Y Lee, Ainslie Mitchell, Sydney Liu Lau, Hongyan An, Poornima Rajeaskariah, Valerie Wasinger, Mark Raftery, Katherine Bryant, Nicodemus Tedla
The leukocyte immunoglobulin-like receptor (LILR) A3 is a member of the highly homologous activating and inhibitory receptors expressed on leukocytes. LILRA3 is a soluble receptor of unknown functions but is predicted to act as a broad antagonist to other membrane-bound LILRs. Functions of LILRA3 are unclear primarily because of the lack of high quality functional recombinant protein and insufficient knowledge regarding its ligand(s). Here, we expressed and characterized recombinant LILRA3 (rLILRA3) proteins produced in 293T cells, Escherichia coli, and Pichia pastoris...
November 15, 2013: Journal of Biological Chemistry
Yang Jiao, Li Wang, Xin Gu, Sha Tao, Lu Tian, Rong Na, Zhuo Chen, Jian Kang, Siqun L Zheng, Jianfeng Xu, Jielin Sun, Jun Qi
A recent prostate cancer (PCa) genome-wide association study (GWAS) identified rs103294, a single nucleotide polymorphism (SNP) located on LILRA3, a key component in the regulation of inflammatory inhibition, to be significantly associated with PCa risk in a Chinese population. Because inflammation may be a common etiological risk factor between PCa and benign prostatic hyperplasia (BPH), the current study was conducted to investigate the association of rs103294 with BPH risk. rs103294 was genotyped in a Chinese population of 426 BPH cases and 1,008 controls from Xinhua Hospital in Shanghai, China...
2013: International Journal of Molecular Sciences
Andrzej Wiśniewski, Marta Wagner, Izabela Nowak, Małgorzata Bilińska, Anna Pokryszko-Dragan, Monika Jasek, Piotr Kuśnierczyk
Recently published studies have implicated the deletion polymorphism in LILRA3 gene, as being associated with multiple sclerosis (MS). A total of 309 patients diagnosed with MS and 379 unrelated healthy volunteers were typed for 6.7-kbp deletion in LILRA3 gene. Simultaneously, presence or absence of HLA-DRB1(∗)1501 allele was established to assess the possibility of interaction between LILRA3 deletion and HLA-DRB1(∗)1501 status. In contrast to previous reports, we did not find any association of LILRA3 deletion with MS susceptibility...
March 2013: Human Immunology
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