Napredna pretraga

Pregled bibliografske jedinice broj: 568318

Genome-Wide Association of Serum Uric Acid Concentration : Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia


Karns, Rebekah; Zhang, Ge; Sun, Guangyun; Indugula, Subba Rao; Cheng; Hong; Havaš- Auguštin, Dubravka; Novokmet, Natalija; Rudan, Dusko; Duraković, Zijad et al.
Genome-Wide Association of Serum Uric Acid Concentration : Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia // Annals of human genetics, 76 (2012), 2; 121-127 doi:10.1111/j.1469-1809.2011.00698.x (međunarodna recenzija, članak, znanstveni)


Naslov
Genome-Wide Association of Serum Uric Acid Concentration : Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia

Autori
Karns, Rebekah ; Zhang, Ge ; Sun, Guangyun ; Indugula, Subba Rao ; Cheng ; Hong ; Havaš- Auguštin, Dubravka ; Novokmet, Natalija ; Rudan, Dusko ; Duraković, Zijad ; Missoni, Saša ; Chakraborty, Ranajit ; Rudan, Pavao ; Deka, Ranjan

Izvornik
Annals of human genetics (0003-4800) 76 (2012), 2; 121-127

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

Ključne riječi
Serum uric acid; genome-wide association; Adriatic island population

Sažetak
A genome-wide association study of serum uric acid (SUA) laevels was performed in a relatively isolated population of European descent from an island of the Adriatic coast of Croatia. The study sample included 532 unrelated and 768 related individuals from 235 pedigrees. Inflation due to relatedness was controlled by using genomic control. Genetic association was assessed with 2, 241, 249 single nucleotide polymorphisms (SNPs) in 1300 samples after adjusting for age and gender. Our study replicated four previously reported SUA loci (SLC2A9, ABCG2, RREB1, and SLC22A12). The strongest association was found with a SNP in SLC2A9 (rs13129697, P= 2.33×10(-19) ), which exhibited significant gender-specific effects, 35.76 μmol/L (P= 2.11×10(-19) ) in females and 19.58 μmol/L (P= 5.40×10(-5) ) in males. Within this region of high linkage disequilibrium, we also detected a strong association with a nonsynonymous SNP, rs16890979 (P= 2.24×10(-17) ), a putative causal variant for SUA variation. In addition, we identified several novel loci suggestive of association with uric acid levels (SEMA5A, TMEM18, SLC28A2, and ODZ2), although the P-values (P < 5×10(-6) ) did not reach the threshold of genome-wide significance. Together, these findings provide further confirmation of previously reported uric-acid- related genetic variants and highlight suggestive new loci for additional investigation.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita, Etnologija i antropologija



POVEZANOST RADA


Projekt / tema
196-0342282-0291 - Promjene funkcija organa starenjem, radna sposobnost i biološka dob (Miran Čoklo, )
196-1962766-2751 - Populacijska struktura Hrvatske - antropogenetički pristup (Pavao Rudan, )

Ustanove
Institut za antropologiju

Citiraj ovu publikaciju

Karns, Rebekah; Zhang, Ge; Sun, Guangyun; Indugula, Subba Rao; Cheng; Hong; Havaš- Auguštin, Dubravka; Novokmet, Natalija; Rudan, Dusko; Duraković, Zijad et al.
Genome-Wide Association of Serum Uric Acid Concentration : Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia // Annals of human genetics, 76 (2012), 2; 121-127 doi:10.1111/j.1469-1809.2011.00698.x (međunarodna recenzija, članak, znanstveni)
Karns, R., Zhang, G., Sun, G., Indugula, S., Cheng, Hong, Havaš- Auguštin, D., Novokmet, N., Rudan, D. & Duraković, Z. (2012) Genome-Wide Association of Serum Uric Acid Concentration : Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia. Annals of human genetics, 76 (2), 121-127 doi:10.1111/j.1469-1809.2011.00698.x.
@article{article, year = {2012}, pages = {121-127}, DOI = {10.1111/j.1469-1809.2011.00698.x}, keywords = {serum uric acid, genome-wide association, Adriatic island population}, journal = {Annals of human genetics}, doi = {10.1111/j.1469-1809.2011.00698.x}, volume = {76}, number = {2}, issn = {0003-4800}, title = {Genome-Wide Association of Serum Uric Acid Concentration : Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia}, keyword = {serum uric acid, genome-wide association, Adriatic island population} }

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:


  • MEDLINE


Citati