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Genome-Wide Meta-Analysis of Homocysteine and Methionine Metabolism Identifies Five One Carbon Metabolism Loci and a Novel Association of ALDH1L1 with Ischemic Stroke
by Stephen R. Williams, Qiong Yang, Fang Chen, Xuan Liu, Keith L. Keene, Paul Jacques, Wei-Min Chen, Galit Weinstein, Fang-Chi Hsu, Alexa Beiser, Liewei Wang, Ebony Bookman, Kimberly F. Doheny, Philip A. Wolf, Michelle Zilka, Jacob Selhub, Sarah Nelson, Stephanie M. Gogarten, Bradford B. Worrall, Sudha Seshadri, Michèle M. Sale, the Genomics and Randomized Trials Network , the Framingham Heart Study Circulating homocysteine levels (tHcy), a product of the folate one carbon metabolism pathway (FOCM) through the demethylation of methionine, are heritable and are associated with an increased risk of common diseases such as...
Source: PLoS Genetics - March 20, 2014 Category: Genetics & Stem Cells Authors: Stephen R. Williams et al. Source Type: research

A Novel MMP12 Locus Is Associated with Large Artery Atherosclerotic Stroke Using a Genome-Wide Age-at-Onset Informed Approach
by Matthew Traylor, Kari-Matti Mäkelä, Laura L. Kilarski, Elizabeth G. Holliday, William J. Devan, Mike A. Nalls, Kerri L. Wiggins, Wei Zhao, Yu-Ching Cheng, Sefanja Achterberg, Rainer Malik, Cathie Sudlow, Steve Bevan, Emma Raitoharju, METASTROKE, International Stroke Genetics Consortium, Wellcome Trust Case Consortium 2 (WTCCC2) , Niku Oksala, Vincent Thijs, Robin Lemmens, Arne Lindgren, Agnieszka Slowik, Jane M. Maguire, Matthew Walters, Ale Algra, Pankaj Sharma, John R. Attia, Giorgio B. Boncoraglio, Peter M. Rothwell, Paul I. W. de Bakker, Joshua C. Bis, Danish Saleheen, Steven J. Kittner, Braxton D. Mitchell, Jonat...
Source: PLoS Genetics - July 31, 2014 Category: Genetics & Stem Cells Authors: Matthew Traylor et al. Source Type: research

Natural Genetic Variation of Integrin Alpha L (Itgal) Modulates Ischemic Brain Injury in Stroke
In this study, genome-wide association mapping using 32 inbred mouse strains and an additional linkage scan for infarct volume confirmed that the size of the infarct is determined by ancestral alleles of the causative gene(s). The genetically isolated Civq1 locus in reciprocal recombinant congenic mice refined the critical interval and demonstrated that infarct size is determined by both vascular (collateral vessel anatomy) and non-vascular (neuroprotection) effects. Through the use of interval-specific SNP haplotype analysis, we further refined the Civq1 locus and identified integrin alpha L (Itgal) as one of the causativ...
Source: PLoS Genetics - October 10, 2013 Category: Genetics & Stem Cells Authors: Sehoon Keum et al. Source Type: research

Pleiotropic Associations of Allelic Variants in a 2q22 Region with Risks of Major Human Diseases and Mortality
by Alexander M. Kulminski, Liang He, Irina Culminskaya, Yury Loika, Yelena Kernogitski, Konstantin G. Arbeev, Elena Loiko, Liubov Arbeeva, Olivia Bagley, Matt Duan, Arseniy Yashkin, Fang Fang, Mikhail Kovtun, Svetlana V. Ukraintseva, Deqing Wu, Anatoliy I. Yashin Gaining insights into genetic predisposition to age-related diseases and lifespan is a challenging task complicated by the elusive role of evolution in these phenotypes. To gain more insights, we combined methods of genome-wide and candidate-gene studies. Genome-wide scan in the Atherosclerosis Ri sk in Communities (ARIC) Study (N = 9,573) was used to pre-select ...
Source: PLoS Genetics - November 9, 2016 Category: Genetics & Stem Cells Authors: Alexander M. Kulminski Source Type: research

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease
by Laura M. Raffield, Jacob C. Ulirsch, Rakhi P. Naik, Samuel Lessard, Robert E. Handsaker, Deepti Jain, Hyun M. Kang, Nathan Pankratz, Paul L. Auer, Erik L. Bao, Joshua D. Smith, Leslie A. Lange, Ethan M. Lange, Yun Li, Timothy A. Thornton, Bessie A. Young, Goncalo R. Abecasis, Cathy C. Laurie, Deborah A. Nickerson, Steven A. McCarroll, Adolfo Correa, James G. Wilson, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology& Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups , Guillaume Lettre, Vijay G. Sankaran, Alex P. Reiner Co-inheritance of α-thalassemia has a significant protectiv...
Source: PLoS Genetics - March 28, 2018 Category: Genetics & Stem Cells Authors: Laura M. Raffield Source Type: research

Genomic profiling of human vascular cells identifies < i > TWIST1 < /i > as a causal gene for common vascular diseases
by Sylvia T. Nurnberg, Marie A. Guerraty, Robert C. Wirka, H. Shanker Rao, Milos Pjanic, Scott Norton, Felipe Serrano, Ljubica Perisic, Susannah Elwyn, John Pluta, Wei Zhao, Stephanie Testa, YoSon Park, Trieu Nguyen, Yi-An Ko, Ting Wang, Ulf Hedin, Sanjay Sinha, Yoseph Barash, Christopher D. Brown, Thomas Quertermous, Daniel J. Rader Genome-wide association studies have identified multiple novel genomic loci associated with vascular diseases. Many of these loci are common non-coding variants that affect the expression of disease-relevant genes within coronary vascular cells. To identify such genes on a genome-wide level, ...
Source: PLoS Genetics - January 8, 2020 Category: Genetics & Stem Cells Authors: Sylvia T. Nurnberg Source Type: research

Trans-Ancestral Studies Fine Map the SLE-Susceptibility Locus TNFSF4
by Harinder Manku, Carl D. Langefeld, Sandra G. Guerra, Talat H. Malik, Marta Alarcon-Riquelme, Juan-Manuel Anaya, Sang-Cheol Bae, Susan A. Boackle, Elizabeth E. Brown, Lindsey A. Criswell, Barry I. Freedman, Patrick M. Gaffney, Peter A. Gregersen, Joel M. Guthridge, Sang-Hoon Han, John B. Harley, Chaim O. Jacob, Judith A. James, Diane L. Kamen, Kenneth M. Kaufman, Jennifer A. Kelly, Javier Martin, Joan T. Merrill, Kathy L. Moser, Timothy B. Niewold, So-Yeon Park, Bernardo A. Pons-Estel, Amr H. Sawalha, R. Hal Scofield, Nan Shen, Anne M. Stevens, Celi Sun, Gary S. Gilkeson, Jeff C. Edberg, Robert P. Kimberly, Swapan K. Nat...
Source: PLoS Genetics - July 18, 2013 Category: Genetics & Stem Cells Authors: Harinder Manku et al. Source Type: research

High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms
by Mitja I. Kurki, Emília Ilona Gaál, Johannes Kettunen, Tuuli Lappalainen, Androniki Menelaou, Verneri Anttila, Femke N. G. van 't Hof, Mikael von und zu Fraunberg, Seppo Helisalmi, Mikko Hiltunen, Hanna Lehto, Aki Laakso, Riku Kivisaari, Timo Koivisto, Antti Ronkainen, Jaakko Rinne, Lambertus A. L. Kiemeney, Sita H. Vermeulen, Mari A. Kaunisto, Johan G. Eriksson, Arpo Aromaa, Markus Perola, Terho Lehtimäki, Olli T. Raitakari, Veikko Salomaa, Murat Gunel, Emmanouil T. Dermitzakis, Ynte M. Ruigrok, Gabriel J. E. Rinkel, Mika Niemelä, Juha Hernesniemi, Samuli Ripatti, Paul I. W. de Bakker, Aarno Palotie, Juha E. Jääsk...
Source: PLoS Genetics - January 30, 2014 Category: Genetics & Stem Cells Authors: Mitja I. Kurki et al. Source Type: research

Correction: Genome-Wide Meta-Analysis of Homocysteine and Methionine Metabolism Identifies Five One Carbon Metabolism Loci and a Novel Association of ALDH1L1 with Ischemic Stroke
by The PLOS Genetics Staff
Source: PLoS Genetics - July 18, 2014 Category: Genetics & Stem Cells Authors: The PLOS Genetics Staff Source Type: research

The Association of the Vanin-1 N131S Variant with Blood Pressure Is Mediated by Endoplasmic Reticulum-Associated Degradation and Loss of Function
by Ya-Juan Wang, Bamidele O. Tayo, Anupam Bandyopadhyay, Heming Wang, Tao Feng, Nora Franceschini, Hua Tang, Jianmin Gao, Yun Ju Sung, the COGENT BP consortium , Robert C. Elston, Scott M. Williams, Richard S. Cooper, Ting-Wei Mu, Xiaofeng Zhu High blood pressure (BP) is the most common cardiovascular risk factor worldwide and a major contributor to heart disease and stroke. We previously discovered a BP-associated missense SNP (single nucleotide polymorphism)–rs2272996–in the gene encoding vanin-1, a glycosylphosphatidylinositol (GPI)-anchored membrane pantetheinase. In the present study, we first replicated the asso...
Source: PLoS Genetics - September 18, 2014 Category: Genetics & Stem Cells Authors: Ya-Juan Wang et al. Source Type: research

< i > PHACTR1 < /i > Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance
by Soto Romuald Kiando, Nathan R. Tucker, Luis-Jaime Castro-Vega, Alexander Katz, Valentina D ’Escamard, Cyrielle Tréard, Daniel Fraher, Juliette Albuisson, Daniella Kadian-Dodov, Zi Ye, Erin Austin, Min-Lee Yang, Kristina Hunker, Cristina Barlassina, Daniele Cusi, Pilar Galan, Jean-Philippe Empana, Xavier Jouven, Anne-Paule Gimenez-Roqueplo, Patrick Bruneval, Esther Soo Hyun Kim, Jeffrey W. Olin, Heather L. Gornik, Michel Azizi, Pierre-François Plouin, Patrick T. Ellinor, Iftikhar J. Kullo, David J. Milan, Santhi K. Ganesh, Pierre Boutouyrie, Jason C. Kovacic, Xavier Jeunemaitre, Nabila Bouatia-Naji Fibromuscular dys...
Source: PLoS Genetics - October 27, 2016 Category: Genetics & Stem Cells Authors: Soto Romuald Kiando Source Type: research

Knock-out of a mitochondrial sirtuin protects neurons from degeneration in < i > Caenorhabditis elegans < /i >
by Rachele Sangaletti, Massimo D ’Amico, Jeff Grant, David Della-Morte, Laura Bianchi Sirtuins are NAD⁺-dependent deacetylases, lipoamidases, and ADP-ribosyltransferases that link cellular metabolism to multiple intracellular pathways that influence processes as diverse as cell survival, longevity, and cancer growth. Sirtuins influence the extent of neuronal death in stroke. Howe ver, different sirtuins appear to have opposite roles in neuronal protection. InCaenorhabditis elegans, we found that knock-out of mitochondrial sirtuinsir-2.3, homologous to mammalian SIRT4, is protective in both chemical ischemia and hypera...
Source: PLoS Genetics - August 18, 2017 Category: Genetics & Stem Cells Authors: Rachele Sangaletti Source Type: research

p53-dependent programmed necrosis controls germ cell homeostasis during spermatogenesis
by Francesco Napoletano, Benjamin Gibert, Keren Yacobi-Sharon, St éphane Vincent, Clémentine Favrot, Patrick Mehlen, Victor Girard, Margaux Teil, Gilles Chatelain, Ludivine Walter, Eli Arama, Bertrand Mollereau The importance of regulated necrosis in pathologies such as cerebral stroke and myocardial infarction is now fully recognized. However, the physiological relevance of regulated necrosis remains unclear. Here, we report a conserved role for p53 in regulating necrosis inDrosophila and mammalian spermatogenesis. We found thatDrosophila p53 is required for the programmed necrosis that occurs spontaneously in mitotic ...
Source: PLoS Genetics - September 25, 2017 Category: Genetics & Stem Cells Authors: Francesco Napoletano Source Type: research

Causal relationships between obesity and the leading causes of death in women and men
by Jenny C. Censin, Sanne A. E. Peters, Jonas Bovijn, Teresa Ferreira, Sara L. Pulit, Reedik M ägi, Anubha Mahajan, Michael V. Holmes, Cecilia M. Lindgren Obesity traits are causally implicated with risk of cardiometabolic diseases. It remains unclear whether there are similar causal effects of obesity traits on other non-communicable diseases. Also, it is largely unexplored whether there are any sex-specific differences in the causal effects of obe sity traits on cardiometabolic diseases and other leading causes of death. We constructed sex-specific genetic risk scores (GRS) for three obesity traits; body mass index (BM...
Source: PLoS Genetics - October 23, 2019 Category: Genetics & Stem Cells Authors: Jenny C. Censin Source Type: research

The Triangulation WIthin a STudy (TWIST) framework for causal inference within pharmacogenetic research
by Jack Bowden, Luke Pilling, Deniz T ürkmen, Chia-Ling Kuo, David Melzer In this paper we review the methodological underpinnings of the general pharmacogenetic approach for uncovering genetically-driven treatment effect heterogeneity. This typically utilises only individuals who are treated and relies on fairly strong baseline assumptions to estimate what we term the ‘genetically moderated treatment effect’ (GMTE). When these assumptions are seriously violated, we show that a robust but less efficient estimate of the GMTE that incorporates information on the population of untreated individuals can instead be used. ...
Source: PLoS Genetics - September 8, 2021 Category: Genetics & Stem Cells Authors: Jack Bowden Source Type: research

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