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1. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

Author

Louise A. Donnelly, Veronique Vitart, Alan F. Wright, Nina Smolej-Narančić, Martin Aringer, Philip Riches, William A. Richardson, Irena Martinović Klarić, James A B Floyd, Lina Zgaga, Andrew D. Morris, Ozren Polasek, Barbara Gorgoni, Susan Campbell, Stuart H. Ralston, Colin N. A. Palmer, Igor Rudan, Peter Hohenstein, Branka Janićijević, Juergen Graessler, Caroline Hayward, Anthony M. Marinaki, Joanne E. Morgan, Xinhua Shu, Paul M. McKeigue, James F. Wilson, Charley H Kimber, Sarah H. Wild, Albert Tenesa, Nicola K. Gray, Marijana Peričić, Sara Knott, Pavao Rudan, Lynette D. Fairbanks, Ivana Kolcic, Harry Campbell, Zrinka Biloglav, Tatjana Škarić-Jurić, Lovorka Barac-Lauc, and Nicholas D. Hastie

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Gout, Croatia, Genetic Linkage, Molecular Sequence Data, Population, Glucose Transport Proteins, Facilitative, Biological Transport, Active, Organic Anion Transporters, Fructose, Biology, Polymorphism, Single Nucleotide, Urate transport, Excretion, Xenopus laevis, chemistry.chemical_compound, Germany, Internal medicine, Genetics, medicine, Animals, Humans, Hyperuricemia, education, Aged, Aged, 80 and over, education.field_of_study, Genome, Human, nutritional and metabolic diseases, SLC2A9 gene, uric acid, urate excretion, gout, genome-wide association study, Middle Aged, medicine.disease, Uric Acid, Endocrinology, chemistry, Case-Control Studies, Oocytes, biology.protein, Uric acid, Female, SLC22A12, Biomarkers, SLC2A9
Abstract

Uric acid is the end product of purine metabolism in humans and great apes, which have lost hepatic uricase activity, leading to uniquely high serum uric acid concentrations (200-500 microM) compared with other mammals (3-120 microM). About 70% of daily urate disposal occurs via the kidneys, and in 5-25% of the human population, impaired renal excretion leads to hyperuricemia. About 10% of people with hyperuricemia develop gout, an inflammatory arthritis that results from deposition of monosodium urate crystals in the joint. We have identified genetic variants within a transporter gene, SLC2A9, that explain 1.7-5.3% of the variance in serum uric acid concentrations, following a genome-wide association scan in a Croatian population sample. SLC2A9 variants were also associated with low fractional excretion of uric acid and/or gout in UK, Croatian and German population samples. SLC2A9 is a known fructose transporter, and we now show that it has strong uric acid transport activity in Xenopus laevis oocytes.

Published
2008

2. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Author

Sophie H. Van Wingerden, Wei V. Zhuang, Mladen Boban, John R. B. Perry, Joop S.E. Laven, Shah Ebrahim, Andrea D. Coviello, Barbara McKnight, Laura Crisponi, Sharon L.R. Kardia, Daniel I. Chasman, Lorna M. Lopez, George Dedoussis, Stefania Bandinelli, Nora Franceschini, Florian Ernst, A. Cecile J.W. Janssens, Yvonne T. van der Schouw, Henri Wallaschofski, Jari Lahti, Triin Laisk, Elizabeth A. Streeten, Joanne M. Murabito, Liana Ferreli, Harold Snieder, Dale R. Nyholt, Lenore J. Launer, Panagiotis Deloukas, Melissa E. Garcia, Eco J. C. de Geus, H.-Erich Wichmann, John M. Starr, Eva Albrecht, Paul M. Ridker, N. Charlotte Onland-Moret, Petra H.M. Peeters, Massimo Mangino, Jacques S. Beckmann, Stephen J. Chanock, Grant W. Montgomery, Julie E. Buring, Barbara Thorand, Diederick E. Grobbee, Irena Martinović Klarić, Constance Chen, So-Youn Shin, Ozren Polasek, Daniel F. Gudbjartsson, Patrick Sulem, Carla H. van Gils, Eleonora Porcu, Cinzia Sala, Tim D. Spector, Alexander N. Parker, Ellen W. Demerath, Guillaume Paré, Krista Fischer, Simon N. Stacey, Mara Marongiu, Lina Zgaga, Jouke-Jan Hottenga, Unnur Styrkarsdottir, Debbie A Lawlor, Douglas P. Kiel, Guangju Zhai, Kari Stefansson, Lisette Stolk, Igor Rudan, David Schlessinger, Katri R Currency Signikkönen, Z. Kutalik, Ian J. Deary, Frank J.M. Broekmans, Ulf de Faire, Vincent Mooser, Luigi Ferrucci, Maria G. Stathopoulou, Pio D'Adamo, Marek Zygmunt, Linda Broer, James F. Wilson, Lovorka Barać Lauc, Angelo Scuteri, Patrik K. E. Magnusson, Frank B. Hu, Jennifer A. Smith, Toomas Haller, Giorgio Pistis, Colette J M Wijnands-van Gent, Emil Rehnberg, Marlies Voorhuis, Anna Murray, David Melzer, Chunyan He, Tamara B. Harris, Merli Hass, Patrick F. McArdle, Valur Emilsson, Gérard Waeber, Manuela Uda, Nancy L. Pedersen, Jenny A. Visser, Behrooz Z. Alizadeh, Andres Salumets, Andrew D. Johnson, Gonneke Willemsen, Sheila Ulivi, Tmu Esko, Vilmundur Gudnason, Bart C.J.M. Fauser, Maja Barbalić, Henry Völzke, Ronald P. Stolk, Aarno Palotie, Peter Van Nierop, Thor Aspelund, Elisabeth Widen, Caroline Hayward, Johan G. Eriksson, Alan F. Wright, Marilyn C. Cornelis, Tanguy Corre, Eric Boerwinkle, Ben A. Oostra, Alice M. Arnold, Kathleen Stirrups, Yvonne V. Louwers, M. Carola Zillikens, Anne B. Newman, Jerome I. Rotter, Jianjun Liu, Per Hall, Aaron R. Folsom, David Karasik, Yan V. Sun, Albert Hofman, Gudny Eiriksdottir, Andrew B. Singleton, Victor J M Pop, Pau Navarro, Tatijana Zemunik, Andres Metspalu, Andrew S. Plump, Cornelia M. van Duijn, Dorret I. Boomsma, Harry Campbell, Nicole Soranzo, Bruce M. Psaty, Enda M. Byrne, Christian Gieger, Albert Tenesa, Nicholas G. Martin, Unnur Thorsteinsdottir, Kathryn L. Lunetta, Laufey Tryggvadottir, Serena Sanna, Kim Tsui, Ivana Kolcic, Laura M. Yerges-Armstrong, Jacqueline M. Vink, Bruce H. R. Wolffenbuttel, Daniela Toniolo, Peter M. Visscher, Rob M. van Dam, Erik Ingelsson, Sandra Lai, Corrado Masciullo, Albert V. Smith, Paolo Gasparini, Sarah E. Medland, Nicole L. Glazer, Peter Kraft, André G. Uitterlinden, David J. Hunter, Andrea Burri, Jules J. Keyzer, Susan E. Hankinson, Gail Davies, Andrew C. Heath, Biological Psychology, EMGO+ - Mental Health, Internal Medicine, Epidemiology, Obstetrics & Gynecology, Surgery, Hematology, Clinical Genetics, Study T.L., Lisette, Stolk, John R. B., Perry, Daniel I., Chasman, Chunyan, He, Massimo, Mangino, Patrick, Sulem, Maja, Barbalic, Linda, Broer, Enda M., Byrne, Florian, Ernst, Tõnu, Esko, Nora, Franceschini, Daniel F., Gudbjartsson, Jouke Jan, Hottenga, Peter, Kraft, Patrick F., Mcardle, Eleonora, Porcu, So Youn, Shin, Albert V., Smith, Sophie van, Wingerden, Guangju, Zhai, Wei V., Zhuang, Eva, Albrecht, Behrooz Z., Alizadeh, Thor, Aspelund, Stefania, Bandinelli, Lovorka Barac, Lauc, Jacques S., Beckmann, Mladen, Boban, Eric, Boerwinkle, Frank J., Broekman, Andrea, Burri, Harry, Campbell, Stephen J., Chanock, Constance, Chen, Marilyn C., Corneli, Tanguy, Corre, Andrea D., Coviello, D'Adamo, ADAMO PIO, Gail, Davie, Ulf de, Faire, Eco J. C., de Geu, Ian J., Deary, George V. Z., Dedoussi, Panagiotis, Delouka, Shah, Ebrahim, Gudny, Eiriksdottir, Valur, Emilsson, Johan G., Eriksson, Bart C. J. M., Fauser, Liana, Ferreli, Luigi, Ferrucci, Krista, Fischer, Aaron R., Folsom, Melissa E., Garcia, Gasparini, Paolo, Christian, Gieger, Nicole, Glazer, Diederick E., Grobbee, Per, Hall, Toomas, Haller, Susan E., Hankinson, Merli, Ha, Caroline, Hayward, Andrew C., Heath, Albert, Hofman, Erik, Ingelsson, A. Cecile J. W., Janssen, Andrew D., Johnson, David, Karasik, Sharon L. R., Kardia, Jules, Keyzer, Douglas P., Kiel, Ivana, Kolcic, Zoltán, Kutalik, Jari, Lahti, Sandra, Lai, Triin, Laisk, Joop S. E., Laven, Debbie A., Lawlor, Jianjun, Liu, Lorna M., Lopez, Yvonne V., Louwer, Patrik K. E., Magnusson, Mara, Marongiu, Nicholas G., Martin, Irena Martinovic, Klaric, Corrado, Masciullo, Barbara, Mcknight, Sarah E., Medland, David, Melzer, Vincent, Mooser, Pau, Navarro, Anne B., Newman, Dale R., Nyholt, N., Charlotte Onland Moret, Aarno, Palotie, Guillaume, Paré, Alex N., Parker, Nancy L., Pedersen, Petra H. M., Peeter, Giorgio, Pisti, Andrew S., Plump, Ozren, Polasek, Victor J. M., Pop, Bruce M., Psaty, Katri, Räikkönen, Emil, Rehnberg, Jerome I., Rotter, Igor, Rudan, Cinzia, Sala, Andres, Salumet, Angelo, Scuteri, Andrew, Singleton, Jennifer A., Smith, Harold, Snieder, Nicole, Soranzo, Simon N., Stacey, John M., Starr, Maria G., Stathopoulou, Kathleen, Stirrup, Ronald P., Stolk, Unnur, Styrkarsdottir, Yan V., Sun, Albert, Tenesa, Barbara, Thorand, Daniela, Toniolo, Laufey, Tryggvadottir, Kim, Tsui, Sheila, Ulivi, Rob M., van Dam, Yvonne T., van der Schouw, Carla H., van Gil, Peter van, Nierop, Jacqueline M., Vink, Peter M., Visscher, Marlies, Voorhui, Gérard, Waeber, Henri, Wallaschofski, H., Erich Wichmann, Elisabeth, Widen, Colette J. M., Wijnands van Gent, Gonneke, Willemsen, James F., Wilson, Bruce H. R., Wolffenbuttel, Alan F., Wright, Laura M., Yerges Armstrong, Tatijana, Zemunik, Lina, Zgaga, M., Carola Zilliken, Marek, Zygmunt, The LifeLines Cohort, Study, Alice M., Arnold, Dorret I., Boomsma, Julie E., Buring, Laura, Crisponi, Ellen W., Demerath, Vilmundur, Gudnason, Tamara B., Harri, Frank B., Hu, David J., Hunter, Lenore J., Launer, Andres, Metspalu, Grant W., Montgomery, Ben A., Oostra, Paul M., Ridker, Serena, Sanna, David, Schlessinger, Tim D., Spector, Kari, Stefansson, Elizabeth A., Streeten, Unnur, Thorsteinsdottir, Manuela, Uda, André G., Uitterlinden, Cornelia M., van Duijn, Henry, Völzke, Anna, Murray, Joanne M., Murabito, Jenny A., Visser, Kathryn L., Lunetta, Faculteit Medische Wetenschappen/UMCG, Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Lifestyle Medicine (LM), and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Subjects
Netherlands Twin Register (NTR), Candidate gene, Menopause, dna repair, DNA Repair, PROTEIN, Genome-wide association study, DNA-Directed DNA Polymerase, medicine.disease_cause, Bioinformatics, DISEASE, PREMATURE OVARIAN FAILURE, 0302 clinical medicine, NATURAL MENOPAUSE, MUTATION, GENE-EXPRESSION, Genetics, 0303 health sciences, Mutation, 030219 obstetrics & reproductive medicine, Age Factors, 3. Good health, Premature ovarian failure, DNA Polymerase gamma, menopause, loci, genetics, Female, DNA repair, DNA Primase, Biology, Polymorphism, Single Nucleotide, White People, Article, 03 medical and health sciences, FOLLICLE-STIMULATING-HORMONEPREMATURE OVARIAN FAILUREGENOME-WIDE ASSOCIATIONGENE-EXPRESSIONONSETPOLYMORPHISMSMUTATIONHERITABILITYCHROMOSOMEMENARCHE, medicine, Humans, GENOME-WIDE ASSOCIATION, Gene, POLYMORPHISMS, 030304 developmental biology, Genetic association, DNA Helicases, Immunity, Proteins, medicine.disease, FOLLICLE-STIMULATING-HORMONE, DNA Repair Enzymes, Exodeoxyribonucleases, Genetic Loci, ONSET, Genome-Wide Association Study
Abstract

To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 - 10 g8). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-I °B signaling and mitochondrial dysfunction as biological processes related to timing of menopause. © 2012 Nature America, Inc. All rights reserved.

Published
2012

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