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Pattaro, C.* ; Aulchenko, Y.S.* ; Isaacs, A.* ; Vitart, V.* ; Hayward, C.* ; Franklin, C.S.* ; Polasek, O.* ; Kolcic, I.* ; Biloglav, Z.* ; Campbell, S.* ; Hastie, N.* ; Lauc, G.* ; Meitinger, T. ; Oostra, B.A.* ; Gyllensten, U.* ; Wilson, J.F.* ; Pichler, I.* ; Hicks, A.A.* ; Campbell, H.* ; Wright, A.F.* ; Rudan, I.* ; van Duijn, C.M.* ; Riegler, P.* ; Marroni, F.* ; Pramstaller, P.P.*

Genome-wide linkage analysis of serum creatinine in three isolated European populations.

Kidney Int. 76, 297-306 (2009)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
There is increasing evidence for a role of genetic predisposition in the etiology of kidney disease, but linkage scans have been poorly replicated. Here we performed a genome-wide linkage analysis of serum creatinine on 2859 individuals from isolated villages in South Tyrol (Italy), Rucphen (The Netherlands) and Vis Island (Croatia), populations that have been stable and permanently resident in their region. Linkage of serum creatinine levels to loci on chromosomes 7p14, 9p21, 11p15, 15q15-21, 16p13, and 18p11 was successfully replicated in at least one discovery population or in the pooled analysis. A novel locus was found on chromosome 10p11. Linkage to chromosome 22q13, independent of diabetes and hypertension, was detected over a region containing the non-muscle myosin heavy chain type II isoform A (MYH9) gene (LOD score = 3.52). In non-diabetic individuals, serum creatinine was associated with this gene in two of the three populations and in meta-analysis (SNP rs11089788, P-value = 0.0089). In populations sharing a homogeneous environment and genetic background, heritability of serum creatinine was higher than in outbred populations, with consequent detection of a larger number of loci than reported before. Our finding of a replicated association of serum creatinine with the MYH9 gene, recently linked to pathological renal conditions in African Americans, suggests that this gene may also influence kidney function in healthy Europeans.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter creatinine; heritability; isolated populations; linkage; MYH9; renal function; glomerular-filtration-rate; stage renal-disease; genes-controlling variation; chronic kidney-disease; african-americans; diabetic-nephropathy; fanconi syndrome; utah pedigrees; complex traits; south tyrol
ISSN (print) / ISBN 0085-2538
e-ISSN 1523-1755
Zeitschrift Kidney International
Quellenangaben Band: 76, Heft: 3, Seiten: 297-306 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Begutachtungsstatus Peer reviewed