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Predictive value of 8 genetic loci for serum uric acid concentration

机译:8个遗传位点对血尿酸浓度的预测价值

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摘要

Aim. To investigate the value of genomic information in prediction of individual serum uric acid concentrations. ----- Methods. Three population samples were investigated: from isolated Adriatic island communities of Vis (n=980) and Korcula (n=944), and from general population of the city of Split (n=507). Serum uric acid concentration was correlated with the genetic risk score based on 8 previously described genes: PDZK1, GCKR, SLC2A9, ABCG2, LRRC16A, SLC17A1, SLC16A9, and SLC22A12, represented by a total of 16 single-nucleotide polymorphisms (SNP). The data were analyzed using classification and regression tree (CART) and general linear modeling. ----- Results. The most important variables for uric acid prediction with CART were genetic risk score in men and age in women. The percent of variance for any single SNP in predicting serum uric acid concentration varied from 0.0%-2.0%. The use of genetic risk score explained 0.1%-2.5% of uric acid variance in men and 3.9%-4.9% in women. The highest percent of variance was obtained when age, sex, and genetic risk score were used as predictors, with a total of 30.9% of variance in pooled analysis. ----- Conclusion. Despite overall low percent of explained variance, uric acid seems to be among the most predictive human quantitative traits based on the currently available SNP information. The use of genetic risk scores is a valuable approach in genetic epidemiology and increases the predictability of human quantitative traits based on genomic information compared with single SNP approach.
机译:目标。调查基因组信息在预测个体血清尿酸浓度中的价值。 - - - 方法。调查了三个人口样本:来自Vis(n = 980)和Korcula(n = 944)的孤立的亚得里亚海岛屿社区,以及来自斯普利特市的一般人口(n = 507)。血清尿酸浓度与基于8个先前描述的基因的遗传风险评分相关:PDZK1,GCKR,SLC2A9,ABCG2,LRRC16A,SLC17A1,SLC16A9和SLC22A12,以总共16个单核苷酸多态性(SNP)表示。使用分类和回归树(CART)和常规线性建模来分析数据。 -----结果。用CART预测尿酸的最重要变量是男性的遗传风险评分和女性的年龄。在预测血清尿酸浓度时,任何单个SNP的差异百分比在0.0%-2.0%之间。遗传风险评分的使用解释了男性尿酸变异的0.1%-2.5%和女性3.9%-4.9%。当使用年龄,性别和遗传风险评分作为预测因子时,获得最高的差异百分比,在汇总分析中,差异总计为30.9%。 -----结论。尽管总的解释方差百分比很低,但根据目前可获得的SNP信息,尿酸似乎是最具预测性的人类定量性状之一。遗传风险评分的使用在遗传流行病学中是一种有价值的方法,与单SNP方法相比,基于基因组信息可提高人类定量性状的可预测性。

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