Pregled bibliografske jedinice broj: 326803
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout
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)
CROSBI ID: 326803 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
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
Projekti:
196-1962766-2747 - Kompleksna obilježja i zdravlje stanovništva od djetinjstva do duboke starosti (Smolej-Narančić, Nina, MZOS ) ( CroRIS)
196-1962766-2751 - Populacijska struktura Hrvatske - antropogenetički pristup (Rudan, Pavao, MZOS ) ( CroRIS)
196-1962766-2763 - Molekularno-genetička obilježja populacija utemeljitelja - Romi kao model (Janićijević, Branka, MZOS ) ( CroRIS)
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Polašek, Ozren, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb,
Institut za antropologiju,
Medicinski fakultet, Split
Profili:
Irena Martinović Klarić
(autor)
Lovorka Barać Lauc
(autor)
Ozren Polašek
(autor)
Igor Rudan
(autor)
Marijana Peričić Salihović
(autor)
Ivana Kolčić
(autor)
Tatjana Škarić-Jurić
(autor)
Branka Janićijević
(autor)
Pavao Rudan
(autor)
Zrinka Biloglav
(autor)
Lina Zgaga
(autor)
Nina Smolej-Narančić
(autor)
Citiraj ovu publikaciju:
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