Now showing items 1-14 of 14

    • Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder 

      Laplana Lafaja, Marina; Royo Sánchez-Palencia, José Luis; Aluja Fabregat, Antón; López, Ricard; Heine-Suñer, Damià; Fibla Palazón, Joan (Hindawi Publishing Corporation, 2014)
      Autism spectrum disorder (ASD) is a highly heritable disease (∼0.9) with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication ...
    • Association of BST-2 Gene Variants With HIV Disease Progression Underscores the Role of BST-2 in HIV Type 1 Infection 

      Laplana Lafaja, Marina; Caruz, Antonio; Pineda, Juan Antonio; Puig, Teresa; Fibla Palazón, Joan (Oxford University Press, 2013-02-01)
      We tested bone marrow stromal cell antigen 2 (BST-2) gene variants rs3217318, a 19-base-pair insertion/deletion polymorphism in the promoter region, and rs10415893, a tag single-nucleotide polymorphism in the 3′ untranslated ...
    • Association of complement receptor 2 polymorphisms withinnate resistance to HIV-1 infection 

      Herrero, Rocío; Real, Luis M.; Rivero-Juárez, Antonio; Pineda, Juan Antonio; Camacho, Ángela; Macías, Juan; Laplana Lafaja, Marina; Konieczny, Piotr; Márquez, Francisco J.; Souto, Juan Carlos; Soria, José Manuel; Saulle, Irma; Lo Caputo, Sergio; Biasin, Mara; Rivero, Antonio; Fibla Palazón, Joan; Caruz, Antonio (Springer Nature, 2015-03)
      HIV-1 induces activation of complement through the classical and lectin pathways. However, the virus incorporates several membrane-bound or soluble regulators of complement activation (RCA) that inactivate complement. HIV-1 ...
    • Distribution of functional polymorphic variants of inflammation-related genes RANTES and CCR5 in long-lived individuals 

      Laplana Lafaja, Marina; Fibla Palazón, Joan (Elsevier, 2012)
      Although persistent inflammation has been related to unsuccessful aging, a pro-inflammatory status is the common phenotype in older people. To assess for a genetic component in the inflammatory status of the oldest we ...
    • Genetic associations of the vitamin D and antiviral pathways with natural resistance to HIV-1 infection are influenced by interpopulation variability 

      Aguilar-Jiménez, Wbeimar; Zapata, Wildeman; Rivero-Juárez, Antonio; Pineda, Juan Antonio; Laplana Lafaja, Marina; Taborda, Natalia A.; Biasin, Mara; Clerici, Mario; Caruz, Antonio; Fibla Palazón, Joan; Rugeles, Maía T. (Elsevier, 2019)
      Vitamin D (VitD) may modulate anti-HIV-1 responses modifying the risk to acquire the HIV-1-infection. We performed a nested case-control exploratory study involving 413 individuals; HIV-1-exposed seropositives (cases) and ...
    • Lack of protective effect of chloroquine derivatives on COVID-19 disease in a Spanish sample of chronically treated patients 

      Laplana Lafaja, Marina; Yuguero Torres, Oriol; Fibla Palazón, Joan (2020)
      Background The search for a SARS-CoV-2 treatment has emerged as a worldwide priority. We evaluated the role of chloroquine and its derivatives in COVID-19 in Spanish individuals. Methods We performed a survey addressed ...
    • Lack of protective effect of chloroquine derivatives on COVID-19 disease in a Spanish sample of chronically treated patients 

      Laplana Lafaja, Marina; Yuguero Torres, Oriol; Fibla Palazón, Joan (Public Library of Science, 2020)
      Background The search for a SARS-CoV-2 treatment has emerged as a worldwide priority. We evaluated the role of chloroquine and its derivatives in COVID-19 in Spanish individuals. Methods We performed a survey addressed ...
    • Pleiotropic analysis of lung cancer and blood triglycerides 

      Zuber, Verena; Marconett, Crystal N.; Shi, Jianxin; Hua, Xing; Wheeler, William; Yang, Chenchen; Song, Lei; Dale, Anders M.; Laplana Lafaja, Marina; Risch, Angela; Witoelar, Aree; Thompson, Wesley K.; Schork, Andrew J.; Bettella, Francesco; Wang, Yunpeng; Djurovic, Srdjan; Zhou, Beiyun; Borok, Zea; van der Heijden, Henricus F. M.; Graaf, Jacqueline de; Swinkels, Dorine; Aben, Katja K.; McKay, James D.; Hung, Rayjean J.; Bikeböller, Heike; Stevens, Victoria L.; Albanes, Demetrius; Caporaso, Neil E.; Han, Younghun; Wei, Yongyue; Panadero, Maria Ángeles; Mayordomo, José I.; Christiani, David C.; Kiemeney, Lambertus; Andreassen, O. A.; Houlston, Richard; Amos, Christopher I.; Chatterjee, Nilanjan; Laird-Offringa, Ite A.; Mills, Ian G.; Landi, Maria Teresa (Oxford University Press, 2016)
      Epidemiologically related traits may share genetic risk factors, and pleiotropic analysis could identify individual loci associated with these traits. Because of their shared epidemiological associations, we conducted ...
    • Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer 

      Wang, Yufei; McKay, James D.; Rafnar, Thorunn; Wang, Zhaoming; Timofeeva, Maria N.; Broderick, Peter; Zong, Xuchen; Laplana Lafaja, Marina; Wei, Yongyue; Han, Younghun; Lloyd, Amy; Delahaye-Sourdeix, Manon; Chubb, Daniel; Gaborieau, Valerie; Wheeler, William; Chatterjee, Nilanjan; Thorleifsson, Gudmar; Sulem, Patrick; Liu, Geoffrey; Kaaks, Rudolf; Henrion, Marc; Kinnersley, Ben; Vallée, Maxime; LeCalvez-Kelm, Florence; Stevens, Victoria L.; Gapstur, Susan M.; Chen, Wei V.; Zaridze, David; Szeszenia-Dabrowska, Neonilia; Lissowska, Jolanta; Rudnai, Peter; Fabianova, Eleonora; Mates, Dana; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Krokan, Hans E.; Gabrielsen, Maiken Elvestad; Skorpen, Frank; Vatten, Lars (Springer Nature, 2014)
      We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and ...
    • SIRPB1 copy-number polymorphism as candidate quantitative trait locus for impulsive-disinhibited personality 

      Laplana Lafaja, Marina; Royo Sánchez-Palencia, José Luis; García Rodríguez, Luis Francisco; Aluja Fabregat, Antón; Gómez-Skarmeta, José Luis; Fibla Palazón, Joan (John Wiley & Sons, 2014-10-26)
      Impulsive-disinhibited personality (IDP) is a behavioral trait mainly characterized by seeking immediate gratification at the expense of more enduring or long-term gains. This trait has a major role in the development of ...
    • Tagging long-lived individuals through vitamin-D receptor (VDR) haplotypes 

      Laplana Lafaja, Marina; Sánchez de la Torre, Manuel; Aguiló, Alicia; Casado, Ignasi; Flores, Miquel; Sánchez-Pellicer, Ramon; Fibla Palazón, Joan (Springer, 2010)
      Longevity is a complex phenomenon involving multiple environmental and biological factors. Genetic studies of longevity have focussed on DNA repair, oxidative damage correction and immune-related genes. Vitamin-D works by ...
    • Toll Like Receptor 2 promoter -196 to -174 deletion affects CD4 levels along HIV infection progression 

      Laplana Lafaja, Marina; Bravo, M. J.; Fernández-Fuertes, M.; Ruiz-García, C.; Alarcón-Martin, E.; Colmenero, J. D.; Caruz, Antonio; Fibla Palazón, Joan; Real, Luis M.; Royo Sánchez-Palencia, José Luis (Infectious Diseases Society of AmericaOxford University Press, 2020-06-09)
      TLR2 plays a key role in innate immune response recognizing molecular patterns expressed by pathogens. rs111200466 is a TLR2 promoter Insertion/Deletion polymorphism with contradictory data about its role in HIV-1 infection. ...
    • Vitamin D Receptor polymorphisms and risk of enveloped virus infection: a meta-analysis 

      Laplana Lafaja, Marina; Royo Sánchez-Palencia, José Luis; Fibla Palazón, Joan (Elsevier, 2018-08-01)
      Introduction Vitamin-D plays a role regulating the immune response against to viral infection. In this sense, vitamin-D deficiency may confer increased susceptibility to enveloped virus infection such as HIV, Hepatitis, ...
    • Vitamin-D pathway genes and HIV-1 disease progression in injection drug users 

      Laplana Lafaja, Marina; Sánchez de la Torre, Manuel; Puig, Teresa; Caruz, Antonio; Fibla Palazón, Joan (Elsevier, 2014-04-21)
      Vitamin-D has pleiotropic effects on calcium and bone metabolism, cellular growth control, cell differentiation and modulation of both innate and acquired immune response. Previous studies revealed the association of ...