SLC2A9 G844A 和 SLC22A12 C246T 变异对儿童血清尿酸浓度的长期影响。
Long-term effects of the SLC2A9 G844A and SLC22A12 C246T variants on serum uric acid concentrations in children.
机构信息
Department of Preventive Medicine, College of Medicine, Ewha Womans University, 1071, Anyangcheon-ro, Yangcheon-ku, Seoul, 158-710, Korea.
Clinical Trial Center, Mokdong Hospital, Ewha Womans University, Seoul, Korea.
出版信息
BMC Pediatr. 2018 Sep 6;18(1):296. doi: 10.1186/s12887-018-1272-y.
BACKGROUND
We evaluated the effects of two single-nucleotide polymorphisms on UA concentrations in the first decade of life using repeated-measures data.
METHODS
We included all subjects who were followed-up at least once and for whom we had both UA and genotypic data (i.e., 375, 204, 307, and 363 patients aged 3, 5, 7, and 9 years, respectively). All participated in the Ewha Birth and Growth Cohort study. We used a mixed model analysis to estimate the longitudinal association of serum UA concentration due to the rs3825017 (SLC22A12 c. 246C > T) and rs16890979 (SLC2A9 c. 844G > A) genotypes.
RESULTS
Overall, the tracking coefficient of UA concentrations in children 3 to 9 years of age was 0.31, and was higher in boys than in girls (0.34 vs. 0.29, respectively). Regarding individual variance, serum UA concentrations decreased as age increased (β = - 0.07, p < 0.05), but there were no significant differences by sex. The effects of rs3825017 on UA concentration were significant in boys, but not in girls. Boys with the T allele of rs3825017 had higher concentrations than their counterparts regardless of the time of follow-up. The rs16890979 genotypes were not significantly associated with serum UA concentration in either sex.
CONCLUSION
This study showed that rs3825017 in the SLC22A12 gene was associated with UA concentration in childhood.
背景
我们使用重复测量数据评估了两个单核苷酸多态性对生命最初十年 UA 浓度的影响。
方法
我们纳入了所有至少随访一次且同时具有 UA 和基因型数据的受试者（即分别为 3 岁、5 岁、7 岁和 9 岁的 375、204、307 和 363 名患者）。所有受试者均参与了 Ewha 出生和生长队列研究。我们使用混合模型分析来估计血清 UA 浓度与 rs3825017（SLC22A12 c.246C > T）和 rs16890979（SLC2A9 c.844G > A）基因型之间的纵向关联。
结果
总体而言，3 至 9 岁儿童 UA 浓度的追踪系数为 0.31，男孩高于女孩（分别为 0.34 和 0.29）。就个体方差而言，血清 UA 浓度随年龄增长而降低（β=−0.07，p<0.05），但性别间无显著差异。rs3825017 对 UA 浓度的影响在男孩中显著，但在女孩中不显著。无论随访时间如何，携带 rs3825017 T 等位基因的男孩 UA 浓度均较高。rs16890979 基因型与男女血清 UA 浓度均无显著相关性。
结论
本研究表明，SLC22A12 基因中的 rs3825017 与儿童时期的 UA 浓度有关。
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