crta
Hrvatska znanstvena Sekcija img
bibliografija
3 gif
 Naslovna
 O projektu
 FAQ
 Kontakt
4 gif
Pregledavanje radova
Jednostavno pretraživanje
Napredno pretraživanje
Skupni podaci
Upis novih radova
Upute
Ispravci prijavljenih radova
Ostale bibliografije
Slični projekti
 Bibliografske baze podataka

Pregled bibliografske jedinice broj: 729022

Časopis

Autori: Parsa, A; ...; Zgaga, Lina; Zemunik, Tatijana; Boban, Mladen; ...; Polašek, Ozren; ...Rudan, Igor; ...Böger, C.A.
Naslov: Common variants in Mendelian kidney disease genes and their association with renal function
( Common variants in Mendelian kidney disease genes and their association with renal function )
Izvornik: Journal of the American Society of Nephrology (1046-6673) 24 (2013), 12; 2105-2107
Vrsta rada: članak
Ključne riječi: Kidney disease; renal function; genetic variants
( Kidney disease; renal function; genetic variants )
Sažetak:
Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74, 354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56, 246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.
Izvorni jezik: eng
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti
URL Internet adrese: http://jasn.asnjournals.org/content/24/12/2105
Broj citata:
Altmetric:
DOI: 10.1681/ASN.2012100983
URL cjelovitog teksta:
Google Scholar: Common variants in Mendelian kidney disease genes and their association with renal function
Upisao u CROSBI: Tatijana Zemunik (tatijana.zemunik@mefst.hr), 11. Stu. 2014. u 14:11 sati



  Verzija za printanje   za tiskati


upomoc
foot_4