基础医学与临床 ›› 2018, Vol. 38 ›› Issue (5): 638-642.

• 研究论文 • 上一篇    下一篇

SLC22A12及SLC2A9基因多态性与宁夏地区人群低尿酸血症的相关性

尹逸丛1,马超超1,吴洁2,禹松林1,国秀芝2,侯立安1,由婷婷1,王丹晨1,李洪雷1,徐涛3,邱玲2   

  1. 1. 中国医学科学院北京协和医院
    2. 北京协和医院
    3. 中国医学科学院基础医学研究所/北京协和医学院基础学院
  • 收稿日期:2017-12-14 修回日期:2018-03-20 出版日期:2018-05-05 发布日期:2018-04-28
  • 通讯作者: 邱玲 E-mail:lingqiubj@aliyun.com
  • 基金资助:
    公共健康研究专项基金

Association of SLC22A12 and SCL2A9 genetic polymorphisms with hypouricemia in Ningxia population

  • Received:2017-12-14 Revised:2018-03-20 Online:2018-05-05 Published:2018-04-28
  • Supported by:
    the Research Special Fund for Public Welfare Industry of Health

摘要: 目的 研究宁夏地区人群SLC22A12基因rs505802位点和SLC2A9基因rs6855911、rs737267、rs12498742、rs7442295、rs734553和rs16890979位点的基因多态性与低尿酸血症的相关性。方法 用多阶段、分层、随机整群抽样的方法于2011年10月到11月在宁夏回族自治区纳入受试者6 056例,确定98例为低尿酸血症受试者,用1:1配对病例对照研究法,按照性别和年龄严格匹配84名尿酸正常受试者作为对照组,进行体格检查及实验室生化指标检测,用配对t检验比较一般体检资料及生化指标,用Sequenom Mass ARRAY iPLEX GOLD 技术进行SNP位点检测,X2检验比较各组间基因型频率及等位基因频率,通过 Hardy-Weinberg 检验确认标本的群体代表性。 结果 低尿酸组三酰甘油、低密度脂蛋白和肌酐均低于对照组(P<0.05)。SLC2A9基因rs7442295位点低尿酸组G的频率高于对照组(6.00% vs 1.00% , Pc<0.05),携带A/A基因型人群低尿酸血症的患病风险低于含有A/G基因型人群,提示A突变为G与低尿酸血症发生相关(Pc<0.05)。其余6个SNPs位点均未体现与低尿酸血症的相关性。结论 SLC2A9基因的rs7442295位点基因多态性与宁夏人群低尿酸血症相关。

关键词: 低尿酸血症, 宁夏人群, 单核苷酸多态性

Abstract: Objective To study the relationship between rs505802 in SLC22A12, rs6855911, rs737267, rs12498742, rs7442295, rs734553, rs16890979 in SLC2A9 genetic polymorphisms and hypouricemia in Ningxia. Method 6056 subjects were collected by multistage, stratified random cluster sampling method in October and November in 2011 in Ningxia Hui autonomous region, 98 subjects with hypouricemia was selected. According to gender and age, 84 controls were selected. Physical examination and laboratory biochemical index test were conducted for the study population. T test was used to compare general clinical data and biochemical indexs between two groups. SNPs were detected by Sequenom Mass ARRAY technology. By χ2 test, we compared the frequencies of the genotype and allele in each group. Samples representativeness was confirmed through the Hardy-Weinberg inspection. Results The levels of TC, LDLC, and Cr in the patients were lower than those in the control group (all P<0.05). There were significant differences in the distribution of A, G allele frequencies of SLC2A9 gene rs7442295 between two groups. The risk of hypouricemia in patients with A/A genotype was lower than that of A/G genotype (Pc<0.05), indicating that A >G mutation was associated with hypouricemia. Conclusion Polymorphisms of SLC2A9 gene rs7442295 are significant correlation with hyporuricemia in Ningxia.

Key words: Hyporuricemia, Ningxia people, Single nucleotide polymorphisms