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Pregled bibliografske jedinice broj: 326803

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


Vitart, Veronique; Rudan, Igor; Hayward, Caroline; Gray, Nicola K.; Floyd, James; Palmer, Colin N. A.; Knott, Sara A.; Kolcic, Ivana; Polašek, Ozren; Graessler, Juergen et al.
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout // Nature Genetics, 40 (2008), 4; 437-442 (međunarodna recenzija, članak, znanstveni)


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

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

Izvornik
Nature Genetics (1061-4036) 40 (2008), 4; 437-442

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

Ključne riječi
SLC2A9 gene; uric acid; urate excretion; gout; genome-wide association study

Sažetak
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 lM) compared with other mammals (3?120 lM)1. About 70% of daily urate disposal occurs via the kidneys, and in 5?25% of the human population, impaired renal excretion leads to hyperuricemia2. 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 transporter3, and we now show that it has strong uric acid transport activity in Xenopus laevis oocytes.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Javno zdravstvo i zdravstvena zaštita, Etnologija i antropologija



POVEZANOST RADA


Projekt / tema
196-1962766-2747 - Kompleksna obilježja i zdravlje stanovništva od djetinjstva do duboke starosti (Nina Smolej-Narančić, )
196-1962766-2751 - Populacijska struktura Hrvatske - antropogenetički pristup (Pavao Rudan, )
196-1962766-2763 - Molekularno-genetička obilježja populacija utemeljitelja - Romi kao model (Branka Janićijević, )
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Ozren Polašek, )

Ustanove
Medicinski fakultet, Zagreb,
Institut za antropologiju,
Medicinski fakultet, Split

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


Uključenost u ostale bibliografske baze podataka:


  • Biological Sciences
  • EMBASE (Excerpta Medica)
  • Human Genome Abstracts
  • MEDLINE