Linkage of serum creatinine and glomerular filtration rate to chromosome 2 in Utah pedigrees

Steven Hunt, Hilary Coon, Sandra J. Hasstedt, Richard M. Cawthon, Nicola J. Camp, Lily L. Wu, Paul N. Hopkins

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Background Serum creatinine and creatinine clearance are used as indicators of renal function and may indicate a propensity for development of end-stage renal disease. Identifying genes related to future decreases in renal function could be important in assessing risk and defining abnormal mechanisms amenable to preventive measures. Although creatinine clearance is a better measure of renal function than serum creatinine, proper and complete urine collections in large population studies are sometimes problematic. This can lead to a loss in power to detect linkage. Therefore, in this study we also investigated serum creatinine and estimated glomerular filtration rates (GFR), both of which are more reliably measured. Methods Linkage was tested in a genome scan using 49 large Utah pedigrees examined three times over 10 years to detect regions harboring genes related to reduced renal function. Results Heritability of serum creatinine ranged from 25% to 31% across three examinations, and heritability of GFR ranged from 37% to 42%. The highest log of the odds (LOD) score for serum creatinine was found on chromosome 2 at 145 cM on the Marshfield map (D2S1334). Consistent nonparametric linkage for serum creatinine was found for all three examinations (LOD = 3.15, 2.75, and 2.00, respectively). Estimates of GFR also showed linkage to this region. Conclusions The consistency of linkage to chromosome 2 over longitudinally repeated measurements increases the likelihood that this region harbors a gene influencing phenotypic variation in serum creatinine and GFR. Identification of this gene could help to predict which individuals are most likely to progress to renal disease.

Original languageEnglish
Pages (from-to)511-515
Number of pages5
JournalAmerican Journal of Hypertension
Volume17
Issue number6
DOIs
Publication statusPublished - Jun 2004
Externally publishedYes

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Chromosomes, Human, Pair 2
Pedigree
Glomerular Filtration Rate
Creatinine
Serum
Kidney
Genes
Urine Specimen Collection
Chronic Kidney Failure
Genome

Keywords

  • Creatinine clearance
  • glomerular filtration rate
  • linkage analysis
  • pedigrees
  • renal disease

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Linkage of serum creatinine and glomerular filtration rate to chromosome 2 in Utah pedigrees. / Hunt, Steven; Coon, Hilary; Hasstedt, Sandra J.; Cawthon, Richard M.; Camp, Nicola J.; Wu, Lily L.; Hopkins, Paul N.

In: American Journal of Hypertension, Vol. 17, No. 6, 06.2004, p. 511-515.

Research output: Contribution to journalArticle

Hunt, Steven ; Coon, Hilary ; Hasstedt, Sandra J. ; Cawthon, Richard M. ; Camp, Nicola J. ; Wu, Lily L. ; Hopkins, Paul N. / Linkage of serum creatinine and glomerular filtration rate to chromosome 2 in Utah pedigrees. In: American Journal of Hypertension. 2004 ; Vol. 17, No. 6. pp. 511-515.
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