Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-11-11
pubmed:abstractText
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.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1523-1755
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
76
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
297-306
pubmed:meshHeading
pubmed-meshheading:19387472-Adolescent, pubmed-meshheading:19387472-Adult, pubmed-meshheading:19387472-Aged, pubmed-meshheading:19387472-Aged, 80 and over, pubmed-meshheading:19387472-Creatinine, pubmed-meshheading:19387472-Europe, pubmed-meshheading:19387472-European Continental Ancestry Group, pubmed-meshheading:19387472-Female, pubmed-meshheading:19387472-Genome, Human, pubmed-meshheading:19387472-Genome-Wide Association Study, pubmed-meshheading:19387472-Humans, pubmed-meshheading:19387472-Lod Score, pubmed-meshheading:19387472-Male, pubmed-meshheading:19387472-Middle Aged, pubmed-meshheading:19387472-Molecular Motor Proteins, pubmed-meshheading:19387472-Myosin Heavy Chains, pubmed-meshheading:19387472-Polymorphism, Single Nucleotide, pubmed-meshheading:19387472-Quantitative Trait, Heritable, pubmed-meshheading:19387472-Young Adult
pubmed:year
2009
pubmed:articleTitle
Genome-wide linkage analysis of serum creatinine in three isolated European populations.
pubmed:affiliation
Institute of Genetic Medicine, European Academy Bozen/Bolzano (EURAC), Bolzano, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't