Original scientific paper
Common Variants in SLC17A3 Gene Affect Intra-personal Variation in Serum Uric Acid Levels in Longitudinal Time Series
Ozren Polašek
; Andrija Štampar School of Public Health, University of Zagreb Medical School, Zagreb, Croatia
Iris Jerončić
; University of Split School of Medicine, Split, Croatia
Rosanda Mulić
; University of Split School of Medicine, Split, Croatia
Zorana Klišmanić
; University of Split School of Medicine, Split, Croatia
Marina Pehlić
; University of Split School of Medicine, Split, Croatia
Tatijana Zemunik
; School of Medicine, Split, Croatia
Ivana Kolčić
; Andrija Štampar School of Public Health, University of Zagreb Medical School, Zagreb, Croatia
Abstract
Aim To investigate whether intra-personal variation in serum
uric acid concentration is influenced by genes that
were described to be associated with serum uric acid levels
in cross-sectional studies.
Methods The study included 92 participants from the isolated
community of the Croatian island of Vis. For each participant,
two uric acid concentration measurements were
available, one from 2002 and one from 2003. Changes in
uric acid concentration were correlated with a set of 8
genes known to affect it: PDZK1, GCKR, SLC2A9, ABCG2,
LRRC16A, SLC17A3, SLC16A9, and SLC22A12.
Results Thirteen participants (14%) had uric acid concentration
change greater than 130 μmol/L. Greater variability
of uric acid concentration was recorded in women (coefficient
of variation 49% vs 12% in men). Two single-nucleotide
polymorphisms (SNP) belonging to SLC17A3 gene
(rs9393672 and rs942379) yielded significant association
with serum uric acid concentration changes in women.
These two SNPs explained 0.2%-1.3% of variance for 2002
or 2003 uric acid measurement and 1.1%-1.8% of variance
for the average value of these two measurements.
Conclusions Repeated measurements offer a possibility
to enrich the percent of explained variance and contribute
to the understanding of the “missing heritability” concept.
Although a number of genes have been shown to affect
serum uric acid concentration, SLC17A3 seems to have a
major role in determination of serum uric acid repeated
measurements variation.
Keywords
uric acid; SLC17A3; repeated measurement; genome-wide association; missing heritability, Croatia
Hrčak ID:
53504
URI
Publication date:
15.2.2010.
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