基础医学与临床 ›› 2016, Vol. 36 ›› Issue (4): 503-507.

• 研究论文 • 上一篇    下一篇

ABCG2基因rs2231142位点多态性与浙南地区人群原发性痛风的关系

王金丹1,余玲玲2,黄德益3,施苏雪1,赵敏敏1,方丽丽1,李芳4   

  1. 1. 温州医科大学
    2. 温州医科大学附属第二医院
    3. .玉环县人民医院
    4. 玉环县人民医院
  • 收稿日期:2015-11-09 修回日期:2016-01-06 出版日期:2016-04-05 发布日期:2016-03-29
  • 通讯作者: 李芳 E-mail:Li87293505@aliyun.com
  • 基金资助:
    浙江省科技厅项目

The Relationship between Polymorphism of rs2231142 of ABCG2 Gene and Primary Gout in Zhe Nan Population

  • Received:2015-11-09 Revised:2016-01-06 Online:2016-04-05 Published:2016-03-29

摘要: 目的 探讨三磷酸腺苷结合盒转运蛋白G2基因(ABCG2)rs2231142位点与浙南地区原发性痛风的相关性。方法 收集浙南地区原发性痛风样本508例和正常健康体检样本558例,用微滴式数字化PCR技术进行基因分型,分析该位点多态性与痛风的相关性。结果 痛风组尿酸、三酰甘油、胆固醇、尿素氮、肌酐以及收缩压水平显著高于正常组(p<0.05)。痛风组ABCG2基因rs2231142位点AA型和A等位基因频率显著高于正常组(p<0.05)。痛风组AA基因型/AC基因型尿酸、尿素氮和肌酐水平型显著高于痛风组CC基因(p<0.05)。结论 ABCG2基因rs2231142位点是浙南地区原发性痛风的易感基因位点,提示A等位基因提高了痛风患者的尿酸水平,携带AA基因型的个体更易患痛风。

关键词: 原发性痛风, ABCG2基因, 基因多态性, 易感性, 微滴式数字PCR

Abstract: Objective To explore the correlation between polymorphism of rs2231142 of ATP-binding cassette superfamily G member2 gene (ABCG2) and primary gout in Zhe Nan population. Methods 508 primary gout patients and 558 normal medical examination people were recruited from Zhe Nan area. These subjects underwent clinical test, gene polymorphism analysis by droplet digital PCR. Results The Uric Acid, triglyceride, cholesterol, urea nitrogen, creatinine and systolic pressure levels in the primary gout group were significantly higher than control group(p<0.05). The incidences of the ABCG2gene rs2231142 AA genotype and the frequencies of A allele were significantly higher than control group(p<0.05). Comparison AA genotype/AC genotype with CC genotype in primary gout group, the Uric Acid, urea nitrogen and creatinine levels were significantly higher(p<0.05). Conclusions The rs2231142 polymorphism of ABCG2 gene may be susceptibility to primary gout and play a role in the development of primary gout in the zhe nan population, and AA genotype individuals were more susceptible to primary gout.

Key words: Primary gout, ABCG2 gene, Polymorphism, Susceptibility, Droplet Digital PCR

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