M
Mark N. Kvale
Researcher at University of California, San Francisco
Publications - 45
Citations - 3276
Mark N. Kvale is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Genome-wide association study & Genetic epidemiology. The author has an hindex of 22, co-authored 39 publications receiving 2660 citations.
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Journal ArticleDOI
Narcolepsy is strongly associated with the T-cell receptor alpha locus.
Joachim Hallmayer,Juliette Faraco,Ling Lin,Stephanie Hesselson,Juliane Winkelmann,Minae Kawashima,Minae Kawashima,Geert Mayer,Giuseppe Plazzi,Sona Nevsimalova,Patrice Bourgin,Sheng Seung-Chul Hong,Yutaka Honda,Makoto Honda,Birgit Högl,William T. Longstreth,Jacques Montplaisir,David Kemlink,Mali Einen,Justin Chen,Stacy L. Musone,Matthew Akana,Taku Miyagawa,Jubao Duan,Alex Desautels,Christine Erhardt,Per Egil Hesla,Francesca Poli,Birgit Frauscher,Jong-Hyun Jeong,Sung-Pil Lee,Thanh G.N. Ton,Mark N. Kvale,Libor Kolesar,Marie Dobrovolna,Gerald T. Nepom,Daniel R. Salomon,H-Erich Wichmann,Guy A. Rouleau,Christian Gieger,Douglas F. Levinson,Pablo V. Gejman,Pablo V. Gejman,Thomas Meitinger,Terry Young,Paul E. Peppard,Katsushi Tokunaga,Pui-Yan Kwok,Neil Risch,Neil Risch,Emmanuel Mignot,Emmanuel Mignot +51 more
TL;DR: The authors found association between narcolepsy and polymorphisms in the TRA@ (T-cell receptor alpha) locus, with highest significance at rs1154155 (average allelic odds ratio 1.69, genotypic odds ratios 1.94 and 2.55, P < 10(-21), 1,830 cases, 2,164 controls).
Journal ArticleDOI
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
Yambazi Banda,Mark N. Kvale,Thomas J. Hoffmann,Stephanie Hesselson,Dilrini K. Ranatunga,Hua Tang,Chiara Sabatti,Lisa A. Croen,Brad Dispensa,Mary Henderson,Carlos Iribarren,Eric Jorgenson,Lawrence H. Kushi,Dana Ludwig,Diane Olberg,Charles P. Quesenberry,Sarah Rowell,Marianne Sadler,Lori C. Sakoda,Stanley Sciortino,Ling Shen,David Smethurst,Carol P. Somkin,Stephen K. Van Den Eeden,Lawrence Walter,Rachel A. Whitmer,Pui-Yan Kwok,Catherine Schaefer,Neil Risch,Neil Risch +29 more
TL;DR: The parent–child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies.
Journal ArticleDOI
Common variants in P2RY11 are associated with narcolepsy
Birgitte Rahbek Kornum,Minae Kawashima,Minae Kawashima,Juliette Faraco,Ling Lin,Thomas J Rico,Stephanie Hesselson,Robert C. Axtell,Hedwich F. Kuipers,Karin Weiner,Alexandra Hamacher,Matthias U. Kassack,Fang Han,Stine Knudsen,Jing Li,Xiaosong Dong,Juliane Winkelmann,Giuseppe Plazzi,Sona Nevsimalova,Seung-Chul Hong,Yutaka Honda,Makoto Honda,Birgit Högl,Thanh G.N. Ton,Jacques Montplaisir,Patrice Bourgin,David Kemlink,Yu-Shu Huang,Simon C. Warby,Mali Einen,Jasmin L Eshragh,Taku Miyagawa,Alex Desautels,Elisabeth Ruppert,Per Egil Hesla,Francesca Poli,Fabio Pizza,Birgit Frauscher,Jong-Hyun Jeong,Sung-Pil Lee,Kingman P. Strohl,William T. Longstreth,Mark N. Kvale,Marie Dobrovolna,Maurice M. Ohayon,Gerald T. Nepom,H-Erich Wichmann,Guy A. Rouleau,Christian Gieger,Douglas F. Levinson,Pablo V. Gejman,Thomas Meitinger,Paul E. Peppard,Terry Young,Poul Jennum,Lawrence Steinman,Katsushi Tokunaga,Pui-Yan Kwok,Neil Risch,Neil Risch,Joachim Hallmayer,Emmanuel Mignot +61 more
TL;DR: A SNP in the 3′ untranslated region of P2RY11, the purinergic receptor subtype P2Y11 gene, is identified as an important regulator of immune-cell survival, with possible implications in narcolepsy and other autoimmune diseases.
Journal ArticleDOI
A large electronic-health-record-based genome-wide study of serum lipids.
Thomas J. Hoffmann,Elizabeth Theusch,Tanushree Haldar,Dilrini K. Ranatunga,Eric Jorgenson,Marisa W. Medina,Mark N. Kvale,Pui-Yan Kwok,Catherine Schaefer,Ronald M. Krauss,Carlos Iribarren,Neil Risch,Neil Risch +12 more
TL;DR: Using EHR pharmacy data, both LDL and triglyceride genetic risk scores were strongly predictive of age at initiation of lipid-lowering treatment and highlight the value of longitudinal EHRs for identifying new genetic features of cholesterol and lipoprotein metabolism with implications for lipid treatment and risk of coronary heart disease.
Journal ArticleDOI
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array.
Thomas J. Hoffmann,Mark N. Kvale,Stephanie Hesselson,Yiping Zhan,Christine Aquino,Yang Cao,Simon Cawley,Elaine Chung,Sheryl Connell,Jasmin L Eshragh,Marcia Ewing,Jeremy Gollub,Mary Henderson,Earl Hubbell,Carlos Iribarren,Jay Kaufman,Richard Lao,Yontao Lu,Dana Ludwig,Gurpreet K. Mathauda,William B. McGuire,Gangwu Mei,Sunita Miles,Matthew M. Purdy,Charles P. Quesenberry,Dilrini K. Ranatunga,Sarah Rowell,Marianne Sadler,Michael H. Shapero,Ling Shen,Tanushree R. Shenoy,David Smethurst,Stephen K. Van Den Eeden,Larry Walter,Eunice Wan,Reid Wearley,Teresa Webster,Wen Cc,Li Weng,Rachel A. Whitmer,Alan Williams,Simon Wong,Chia Zau,Andrea Finn,Catherine Schaefer,Pui-Yan Kwok,Neil Risch,Neil Risch +47 more
TL;DR: The development of a next-generation microarray based on the new highly-efficient Affymetrix Axiom genotyping technology that is used to genotype individuals of European ancestry from the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH).