高尿酸血症和痛风易感基因单核苷酸多态性研究新进展及应用
PDF下载 (361)熊 安 1,姚 麒 2,余晶波 2*.高尿酸血症和痛风易感基因单核苷酸多态性研究新进展及应用[J].宁波大学学报(理工版),2016,29(2):116-121.DOI:
XIONG An 1,YAO Qi 2,YU Jing-bo 2*.Latest Research Progress and Application: Single Nucleotide Polymorphisms in Susceptible Genes of Primary Hyperuricemia and Gout[J].Journal of Ningbo University(Natural Science & Engineering Edition),2016,29(2):116-121.DOI:
| Title: | Latest Research Progress and Application: Single Nucleotide Polymorphisms in Susceptible Genes of Primary Hyperuricemia and Gout |
| 作者: | 熊 安 1, 姚 麒 2, 余晶波 2* |
| Author(s): | XIONG An 1, YAO Qi 2, YU Jing-bo 2* |
| 关键词: | 高尿酸血症; 痛风; 单核苷酸多态性; 易感基因; 尿酸盐转运子; 孟德尔随机化 |
| Keywords: | hyperuricemia; gout; single nucleotide polymorphisms; susceptible genes; urate transporters; Mendelian randomization |
| 分类号: | R589.7 |
| 文献标识码: | A |
| 摘要: | 尿酸盐转运子基因是近年全基因组扫描锁定的高尿酸血症和痛风易感基因, 如SLC22A12、SLC2A9、ABCG2基因等, 其编码肾尿酸盐转运系统相关蛋白质, 参与肾脏对尿酸的重吸收和分泌. 目前锁定的尿酸盐转运子基因可解释约7%的血尿酸水平变异, 有影响力的位点期待被发现. 已有研究将这些易感基因应用到药物基因组学及孟德尔随机化研究领域, 是未来新的发展方向. |
| Abstract: | In this paper the latest research progress and application are reviewed on the single-nucleotide polymorphisms in genetic studies of primary hyperuricemia and gout at home and abroad. The aim is to provide useful reference for clinical and experimental personnel. Urate transporter genes which are locked by the recent genome-wide scan manifest susceptibility genes related to hyperuricemia and gout, such as SLC22A12、SLC2A9 and ABCG2, etc. These genes code related proteins are involved in renal urate transport system and participate in the secretion and reabsorption of uric acid in kidney. Currently locked urate transporter genes can explain about 7% of the serum uric acid level variation. More influential locations are expected to be discovered. Existing studies have applied these susceptibility genes to pharmacogenomics and Mendelian randomization research field, which represents the new R&D direction in the future. |
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| 备注/Memo: | 收稿日期: 2015－10－26. 宁波大学学报（理工版）网址: http://journallg.nbu.edu.cn/基金项目: 宁波科技计划项目（2015C50031）.第一作者: 熊安（1990－）, 女, 湖南长沙人, 在读硕士研究生, 主要研究方向: 老年医学. E-mail: anyforever.an@163.com*通信作者: 余晶波（1962－）, 男, 浙江宁波人, 教授, 主要研究方向: 老年医学. E-mail: yujingbo@medmail.com.cn 宁波大学学报（理工版）网址：http://journallg.nbu.edu.cn/ |
