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Pregled bibliografske jedinice broj: 415135

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

Kolz, Melanie; Johnson, Toby; Sanna, Serena; Teumer, Alexander; Vitart, Veronique; Perola, Markus; Mangino, Massimo; Albrecht, Eva; Wallace, Chris; Farrall, Martin et al.
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations // PLOS genetics, 5 (2009), 6; e1000504, 10 doi:10.1371/journal.pgen.1000504 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 415135 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

Autori
Kolz, Melanie ; Johnson, Toby ; Sanna, Serena ; Teumer, Alexander ; Vitart, Veronique ; Perola, Markus ; Mangino, Massimo ; Albrecht, Eva ; Wallace, Chris ; Farrall, Martin ; Johansson, Åsa ; Nyholt, Dale R. ; Aulchenko, Yurii ; Beckmann, Jacques S. ; Bergmann, Sven ; Bochud, Murielle ; Brown, Morris ; Campbell, Harry ; Connell, John ; Dominiczak, Anna ; Homuth, Georg ; Lamina, Claudia ; McCarthy, Mark I. ; Meitinger, Thomas ; Mooser, Vincent ; Munroe, Patricia ; Nauck, Matthias ; Peden, John ; Prokisch, Holger ; Salo, Perttu ; Salomaa, Veikko ; Samani, Nilesh J. ; Schlessinger, David ; Uda, Manuela ; Völker, Uwe ; Waeber, Gérard ; Waterworth, Dawn ; Wang-Sattler, Rui ; Wright, Alan F. ; Adamski, Jerzy ; Whitfield, John B. ; Gyllensten, Ulf ; Wilson, James F. ; Rudan, Igor ; Pramstaller, Peter ; Watkins, Hugh ; Doering, Angela ; Wichmann, H. Erich ; Spector, Tim D. ; Peltonen, Leena ; Völzke, Henry ; Nagaraja, Ramaiah ; Vollenweider, Peter ; Caulfield, Mark ; Illig, Thomas ; Gieger, Christian

Izvornik
PLOS genetics (1553-7390) 5 (2009), 6; E1000504, 10

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
uric acid ; genome-wide association study ; quantitative traits ; genetics

Sažetak
Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis of genome- wide association scans from 14 studies totalling 28, 141 participants of European descent, resulting in identification of 954 SNPs distributed across nine loci that exceeded the threshold of genome-wide significance, five of which are novel. Overall, the common variants associated with serum uric acid levels fall in the following nine regions: SLC2A9 (p = 5.2x10(-201)), ABCG2 (p = 3.1x10(-26)), SLC17A1 (p = 3.0x10(-14)), SLC22A11 (p = 6.7x10(-14)), SLC22A12 (p = 2.0x10(-9)), SLC16A9 (p = 1.1x10(-8)), GCKR (p = 1.4x10(-9)), LRRC16A (p = 8.5x10(-9)), and near PDZK1 (p = 2.7x10(-9)). Identified variants were analyzed for gender differences. We found that the minor allele for rs734553 in SLC2A9 has greater influence in lowering uric acid levels in women and the minor allele of rs2231142 in ABCG2 elevates uric acid levels more strongly in men compared to women. To further characterize the identified variants, we analyzed their association with a panel of metabolites. rs12356193 within SLC16A9 was associated with DL-carnitine (p = 4.0x10(-26)) and propionyl-L- carnitine (p = 5.0x10(-8)) concentrations, which in turn were associated with serum UA levels (p = 1.4x10(-57) and p = 8.1x10(-54), respectively), forming a triangle between SNP, metabolites, and UA levels. Taken together, these associations highlight additional pathways that are important in the regulation of serum uric acid levels and point toward novel potential targets for pharmacological intervention to prevent or treat hyperuricemia. In addition, these findings strongly support the hypothesis that transport proteins are key in regulating serum uric acid levels.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita



POVEZANOST RADA

Projekti:
MZOS-216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Polašek, Ozren, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Igor Rudan (autor)

Poveznice na cjeloviti tekst rada:

doi journals.plos.org

Citiraj ovu publikaciju:

Kolz, Melanie; Johnson, Toby; Sanna, Serena; Teumer, Alexander; Vitart, Veronique; Perola, Markus; Mangino, Massimo; Albrecht, Eva; Wallace, Chris; Farrall, Martin et al.
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations // PLOS genetics, 5 (2009), 6; e1000504, 10 doi:10.1371/journal.pgen.1000504 (međunarodna recenzija, članak, znanstveni)
Kolz, M., Johnson, T., Sanna, S., Teumer, A., Vitart, V., Perola, M., Mangino, M., Albrecht, E., Wallace, C. & Farrall, M. (2009) Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLOS genetics, 5 (6), e1000504, 10 doi:10.1371/journal.pgen.1000504.
@article{article, author = {Kolz, Melanie and Johnson, Toby and Sanna, Serena and Teumer, Alexander and Vitart, Veronique and Perola, Markus and Mangino, Massimo and Albrecht, Eva and Wallace, Chris and Farrall, Martin and Johansson, \AAsa and Nyholt, Dale R. and Aulchenko, Yurii and Beckmann, Jacques S. and Bergmann, Sven and Bochud, Murielle and Brown, Morris and Campbell, Harry and Connell, John and Dominiczak, Anna and Homuth, Georg and Lamina, Claudia and McCarthy, Mark I. and Meitinger, Thomas and Mooser, Vincent and Munroe, Patricia and Nauck, Matthias and Peden, John and Prokisch, Holger and Salo, Perttu and Salomaa, Veikko and Samani, Nilesh J. and Schlessinger, David and Uda, Manuela and V\"{o}lker, Uwe and Waeber, G\'{e}rard and Waterworth, Dawn and Wang-Sattler, Rui and Wright, Alan F. and Adamski, Jerzy and Whitfield, John B. and Gyllensten, Ulf and Wilson, James F. and Rudan, Igor and Pramstaller, Peter and Watkins, Hugh and Doering, Angela and Wichmann, H. Erich and Spector, Tim D. and Peltonen, Leena and V\"{o}lzke, Henry and Nagaraja, Ramaiah and Vollenweider, Peter and Caulfield, Mark and Illig, Thomas and Gieger, Christian}, year = {2009}, pages = {10}, DOI = {10.1371/journal.pgen.1000504}, chapter = {e1000504}, keywords = {uric acid, genome-wide association study, quantitative traits, genetics}, journal = {PLOS genetics}, doi = {10.1371/journal.pgen.1000504}, volume = {5}, number = {6}, issn = {1553-7390}, title = {Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations}, keyword = {uric acid, genome-wide association study, quantitative traits, genetics}, chapternumber = {e1000504} }
@article{article, author = {Kolz, Melanie and Johnson, Toby and Sanna, Serena and Teumer, Alexander and Vitart, Veronique and Perola, Markus and Mangino, Massimo and Albrecht, Eva and Wallace, Chris and Farrall, Martin and Johansson, \AAsa and Nyholt, Dale R. and Aulchenko, Yurii and Beckmann, Jacques S. and Bergmann, Sven and Bochud, Murielle and Brown, Morris and Campbell, Harry and Connell, John and Dominiczak, Anna and Homuth, Georg and Lamina, Claudia and McCarthy, Mark I. and Meitinger, Thomas and Mooser, Vincent and Munroe, Patricia and Nauck, Matthias and Peden, John and Prokisch, Holger and Salo, Perttu and Salomaa, Veikko and Samani, Nilesh J. and Schlessinger, David and Uda, Manuela and V\"{o}lker, Uwe and Waeber, G\'{e}rard and Waterworth, Dawn and Wang-Sattler, Rui and Wright, Alan F. and Adamski, Jerzy and Whitfield, John B. and Gyllensten, Ulf and Wilson, James F. and Rudan, Igor and Pramstaller, Peter and Watkins, Hugh and Doering, Angela and Wichmann, H. Erich and Spector, Tim D. and Peltonen, Leena and V\"{o}lzke, Henry and Nagaraja, Ramaiah and Vollenweider, Peter and Caulfield, Mark and Illig, Thomas and Gieger, Christian}, year = {2009}, pages = {10}, DOI = {10.1371/journal.pgen.1000504}, chapter = {e1000504}, keywords = {uric acid, genome-wide association study, quantitative traits, genetics}, journal = {PLOS genetics}, doi = {10.1371/journal.pgen.1000504}, volume = {5}, number = {6}, issn = {1553-7390}, title = {Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations}, keyword = {uric acid, genome-wide association study, quantitative traits, genetics}, chapternumber = {e1000504} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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