王婷婷, 朱佳, 雍娴婷, 陈婷, 苏银霞, 王志强, 姚华. 新疆维吾尔族人群高尿酸血症易感性与ABCG2基因多态性的研究[J]. 环境与职业医学, 2018, 35(11): 1002-1006, 1011. DOI: 10.13213/j.cnki.jeom.2018.18324
引用本文: 王婷婷, 朱佳, 雍娴婷, 陈婷, 苏银霞, 王志强, 姚华. 新疆维吾尔族人群高尿酸血症易感性与ABCG2基因多态性的研究[J]. 环境与职业医学, 2018, 35(11): 1002-1006, 1011. DOI: 10.13213/j.cnki.jeom.2018.18324
WANG Ting-ting, ZHU Jia, YONG Xian-ting, CHEN Ting, SU Yin-xia, WANG Zhi-qiang, YAO Hua. Association between susceptibility of hyperuricemia and polymorphisms of ABCG2 gene in Uygur population in Xinjiang[J]. Journal of Environmental and Occupational Medicine, 2018, 35(11): 1002-1006, 1011. DOI: 10.13213/j.cnki.jeom.2018.18324
Citation: WANG Ting-ting, ZHU Jia, YONG Xian-ting, CHEN Ting, SU Yin-xia, WANG Zhi-qiang, YAO Hua. Association between susceptibility of hyperuricemia and polymorphisms of ABCG2 gene in Uygur population in Xinjiang[J]. Journal of Environmental and Occupational Medicine, 2018, 35(11): 1002-1006, 1011. DOI: 10.13213/j.cnki.jeom.2018.18324

新疆维吾尔族人群高尿酸血症易感性与ABCG2基因多态性的研究

Association between susceptibility of hyperuricemia and polymorphisms of ABCG2 gene in Uygur population in Xinjiang

  • 摘要: 目的 研究新疆维吾尔族人群ABCG2基因多态性和高尿酸血症易感性的关系。

    方法 采用病例-对照研究的方法,收集维吾尔族高尿酸血症组1 024例,对照组1 033例,采用Sequenom MassARRAY®SNP技术检测新疆维吾尔族对象中ABCG2基因多态性位点rs117104615、rs1448784、rs2231137、rs2231142、rs2622621、rs2622626基因型,并进行基因模型分析,筛检出疾病易感性的单核苷酸多态性(SNPs)。

    结果 在高尿酸血症组和对照组间对ABCG2基因6个位点的基因型和等位基因进行比较,发现rs2231142位点CA和AA基因型具有较高的高尿酸血症发病风险,其OR及95%CI分别为1.586(1.305~1.929)、1.807(1.171~2.788);A等位基因具有较高的高尿酸血症发病风险,OR及95%CI分别为1.505(1.284~1.763)。rs2622626位点G等位基因是高尿酸血症发病的保护因素,具有较低的高尿酸血症发病风险(OR=0.861,95%CI:0.759~0.977)。经年龄、性别、吸烟等协变量调整后rs2231142在显性模型中CC是高尿酸血症的保护因素(P < 0.05),OR(95%CI)为0.562(0.468~0.676);rs2622626的隐性模型中GT、TT基因型增加高尿酸血症的风险,OR(95%CI)为1.312(1.026~1.676)。

    结论 ABCG2rs2622626和rs2231142位点单核苷酸多态可能与维吾尔族高尿酸血症发病的易感性有关联。

     

    Abstract: Objective To study the association between ABCG2 gene polymorphisms and hyperuricemia susceptibility in Xinjiang Uygur population.

    Methods A case-control study was conducted in 1 024 Uygur hyperuricemia patients and 1 033 healthy controls. Sequenom Mass ARRAY®SNP technique was used to detect the polymorphisms of ABCG2 gene in the subjects, including rs117104615, rs1448784, rs2231137, rs2231142, rs2622621, and rs2622626. Single nucleotide polymorphisms (SNPs) associated with the susceptibility to the disease were identified by genetic model analysis.

    Results When comparing the genotypes and alleles of six loci of ABCG2 gene between the hyperuricemia group and the control group, the risk of hyperuricemia was higher in the subjects carrying CA (OR=1.586, 95%CI:1.305-1.929) and AA (OR=1.807, 95%CI:1.171-2.788) genotypes of rs2231142 locus; the risk was also higher in those carrying A allele (OR=1.505, 95%CI:1.284-1.763). The G allele at rs2622626 locus was a protective factor for hyperuricemia, and was associated with a lower risk of hyperuricemia (OR=0.861, 95%CI:0.759-0.977). In the dominant model of rs2231142 adjusted for selected covariances (age, sex, smoking, etc.), CC was a protective factor in the Uygur population (OR=0.562, 95%CI:0.468-0.676, P < 0.05). In the recessive model of rs2622626, GT and TT genotypes increased the risk of hyperuricemia (OR=1.312, 95%CI:1.026-1.676).

    Conclusion SNPs at rs2622626 and rs2231142 loci of ABCG2 gene may be associated with susceptibility to hyperuricemia in Uygurs.

     

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