Polasek Ozren, Jeroncić Iris, Mulić Rosanda, Klismanic Zorana, Pehlić Marina, Zemunik Tatijana, Kolcić Ivana
Andrija Stampar School of Public Health, Medical School, University of Zagreb, Rockefellerova 4, 10000 Zagreb, Croatia.
Croat Med J. 2010 Feb;51(1):32-9. doi: 10.3325/cmj.2010.51.32.
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.
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.
Thirteen participants (14%) had uric acid concentration change greater than 130 micromol/L. Greater variability of uric acid concentration was recorded in women (coefficient of variation 49% vs 12% in men). Two SNPs belonging to SLC17A3 gene (rs9393672 and rs942379) yielded significant association with serum uric acid concentration changes in women. These two single-nucleotide polymorphisms (SNP) 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.
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.
研究血清尿酸浓度的个体内差异是否受横断面研究中描述的与血清尿酸水平相关基因的影响。
该研究纳入了来自克罗地亚维斯岛孤立社区的92名参与者。每位参与者有两次尿酸浓度测量值，一次来自2002年，一次来自2003年。尿酸浓度的变化与已知影响尿酸浓度的8个基因组成的集合相关：PDZK1、GCKR、SLC2A9、ABCG2、LRRC16A、SLC17A3、SLC16A9和SLC22A12。
13名参与者（14%）的尿酸浓度变化大于130微摩尔/升。女性记录到的尿酸浓度变异性更大（变异系数为49%，男性为12%）。属于SLC17A3基因的两个单核苷酸多态性（SNP）（rs9393672和rs942379）与女性血清尿酸浓度变化显著相关。这两个单核苷酸多态性（SNP）解释了2002年或2003年尿酸测量值0.2%-至1.3%的方差，以及这两次测量平均值1.1%-至1.8%的方差。
重复测量为提高可解释方差的百分比提供了可能，并有助于理解“缺失遗传率”概念。尽管已显示许多基因会影响血清尿酸浓度，但SLC17A3似乎在血清尿酸重复测量变异的决定中起主要作用。
