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临床输血与检验

临床输血与检验 ›› 2020, Vol. 22 ›› Issue (2): 160-164.DOI: 10.3969/j.issn.1671-2587.2020.02.012

• 临床检验 • 上一篇    下一篇

沿海地区人群高尿酸血症患病率及其与SLC2A9基因rs2241480位点多态性的关系

魏晓珠, 苏维, 陈望, 刘爱玲   

  1. 518109 广东省深圳市龙华区人民医院检验科
  • 收稿日期:2018-09-11 出版日期:2020-04-20 发布日期:2020-04-16
  • 作者简介:魏晓珠（1987-）,女,广东茂名人,学士,主管技师,主要从事分子生物学及生化检验工作,（Tel）13660539653（E-mail）weixiaozhu1987_1@163.com。

The Correlation between The Prevalence of Hyperuricemia and The Polymorphisms of SLC2A9 Gene Rs2241480 in Coastal Population

WEI Xiao-zhu, SU Wei, CHEN Wang, et al   

  1. Laboratory Department, Longhua District People's Hospital, Shenzhen, Guangdong 518109
  • Received:2018-09-11 Online:2020-04-20 Published:2020-04-16

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摘要： 目的 了解深圳沿海地区人群高尿酸血症（hyperuricemia,HUA）患病率现状,并探讨HUA与SLC2A9基因rs2241480位点多态性的相关性,为HUA的诊断和治疗提供科学依据。方法 随机选取2018年3~7月居住在沿海地区的人群2 753例,应用AU5800全自动生化分析仪检测血清中尿酸（uric acid,UA）含量,采用Sequenom Mass Array iPlex Gold技术对HUA患者和120例非HUA人群的SLC2A9基因rs2241480位点多态性进行检测和统计分析。结果 2 753例人群中检出425例HUA,患病率为15.44%,其中男性18.27%,女性11.55%,男性高于女性,差异有统计学意义（χ2=3.782 1,P<0.05）。>60岁组的HUA患病率最高,为30.67%,其次为51~60岁组和41~50岁组,分别为21.18%和15.09%,各年龄组之间的差异均有统计学意义（χ2=2.168 3~3.418 6,P<0.05）。60岁及以下各组男性HUA患病率均高于女性,差异有统计学意义（χ2=2.761 5~3.905 2,P<0.05）,但>60岁组HUA患病率女性高于男性,差异有统计学意义（χ2=2.036 5,P<0.05）。HUA组SLC2A9基因rs2241480位点CC、CT及TT基因型检出率分别为44.71%、30.82%及24.47%,非HUA组分别为18.33%、37.50%及44.17%,HUA组CC基因型检出率高于非HUA组,差异有统计学意义（χ2=5.162 5,P<0.05）。HUA组C等位基因频率为60.12%,明显高于非HUA组的37.08%,差异有统计学意义（χ2=3.602 4,P<0.05）。结论 深圳沿海地区人群HUA患病率处于国内平均水平之上,且呈低龄化趋势。SLC2A9基因rs2241480位点多态性与HUA有一定的相关性,CC基因型和C等位基因可能是导致本区HUA患病的致病基因。

关键词: 沿海地区, 高尿酸血症, SLC2A9基因, 单核甘酸多态性

Abstract: Objective To investigate the prevalence of Hyperuricemia （HUA） in coastal areas of shenzhen, and to explore the correlation between HUA and SLC2A9 gene rs2241480 site polymorphisms, providing scientific basis for HUA diagnosis and treatment. Methods 2 753 people living in coastal areas from march to July 2018 were randomly selected, serum uric acid （UA） level was detected by AU5800 automatic biochemical analyzer, and SLC2A9 gene rs2241480 polymorphisms of HUA patients and 120 non-HUA people were detected by Sequenom Mass Array iPlex Gold technology, and the test results were statistically analyzed. Results among 2 753 people, 425 cases of HUA were detected, the prevalence rate was 15.44%, among which 18.27% is in male and 11.55% was in female, and the difference was statistically significant （χ2=3.782 1, P<0.05）. > 60 years old group is the highest incidence of HUA, at 30.67%, followed by 51 to 60 years old group, then 41 to 50 years old, 21.18% and 15.09%, respectively, between each age group are statistically significant differences （χ2=2.168 3 ~3.418 6, P<0.05）, and HUA prevalence rates were higher in men than in female at below 60 years old groups , difference was statistically significant （χ2=2.761 5~3.905 2, P<0.05）, but > 60 years old group HUA prevalence of women more than men,difference was statistically significant （χ2=2.036 5, P<0.05）. The detection rates of CC, CT and TT genotypes at the rs2241480 loci of SLC2A9 in the HUA group were 44.71%, 30.82% and 24.47%, respectively. The detection rates of CC genotypes were 18.33%, 37.50%and 44.17% in the non-HUA group, respectively. The detection rates of CC genotypes in the HUA group were higher than those in the non-HUA group, with statistically significant differences （χ2=5.162 5, P<0.05）. The C allele frequency in the HUA group was 60.12%, significantly higher than it is 37.08% in the non-HUA group, and the difference was statistically significant（χ2=3.602 4, P<0.05）. Conclusion the prevalence rate of HUA in coastal areas of shenzhen is above the average level in China, and it is younger. SLC2A9 gene rs2241480 locus polymorphism has some correlation with HUA, and CC genotype and C allele might be pathogenic genes of HUA in this region.

Key words: Coastal areas, Hyperuricemia, SLC2A9 gene, Mononucleotide polymorphisms

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