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河北医学  2021, Vol. 27 Issue (8): 1317-1321    DOI: 10.3969/j.issn.1006-6233.2021.08.018
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海口市原发性痛风患者ABCG2基因rs3114018位点单核苷酸多态性分析
周胃雯, 王雪娇, 唐小波, 孙少清, 符丽娜, 林先珍
海南医学院第一附属医院,海南 海口 570102
An Analysis of Single Nucleotide Polymorphism at Rs3114018 of ABCG2 Gene in Patients with Primary Gout in Haikou City
ZHOU Weiwen, TANG Xiaobo, SUN Shaoqing, et al
The First Affiliated Hospital of Hainan Medical College, Hainan Haikou 570102, China
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摘要 目的: 明确三磷酸腺苷结合盒转运蛋白G2基因(ATP-binding cassette transporter G2,ABCG2)rs3114018位点与海口市原发性痛风的相关性,为海口市原发性痛风提供早期诊断的遗传标记。方法: 选取2019年1月至2020年6月进入我院177例痛风患者为实验组,以191例健康人为对照组,抽取外周血进行检测。采用高通量测序技术对ABCG2的rs3114018位点进行基因分型。采用统计学方法,分析不同rs3114018位点基因型携带频率、相对危险度及其与海口市原发性痛风发生的相关性。结果: 痛风患者AC型携带频率为35.02%,正常人群中AC型携带频率为10.99%;痛风患者CC型携带频率为35.59%,正常人群中CC型携带频率为21.98%。痛风组各基因型频率与健康组相比具有统计学差异(P<0.001);在ABCG2基因突变患者中,发病年龄≤20岁、累计受累关节数和痛风石发生概率这3项指标具有统计学差异(P<0.05);ABCG2基因rs3114018的多态性与血尿酸、血糖、肌酐、谷丙转氨酶和谷草转氨酶等指标存在明显的相关性;与AA基因型相比,AC携带者发病风险提高了3.273倍,校正后为2.642倍,CC携带者发病风险提高了3.825倍,校正后为3.281倍。结论: ABCG2基因rs3114018的多态性与海口市原发性痛风的发病存在相关性,是痛风发病的危险因素,有望为海口市原发性痛风提供新的遗传诊断标记。
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关键词 痛 风盒转运蛋白G2基因单核苷酸多态性rs3114018    
AbstractObjective: To clarify the correlation between ATP binding cassette transporter G2 (ABCG2) rs3114018 and primary gout and provide genetic markers for the early diagnosis of primary gout in Haikou. Methods: A total of 177 patients with gout admitted to our hospital from January 2019 to June 2020 were selected as the experimental group, and 191 healthy controls as the healthy group. Peripheral blood was extracted for detection. High throughput sequencing was used to genotype the rs3114018 locus of ABCG2.The correlation between the genotypes of rs3114018 and the occurrence of primary gout in Haikou was analyzed by statistical method. Results: The frequency of AC type was 35.02% in gout patients and 10.99% in normal population. The frequency of CC type was 35.59% in gout patients and 21.98% in the normal population. The frequency of each genotype in the gout group was statistically different from that in the normal group (P<0.001). The polymorphism of ABCG2 gene rs3114018 was significantly correlated with serum uric acid, blood glucose, creatinine, alanine aminotransferase and glutamate aminotransferase. Compared with AA genotype, the incidence risk of AC carriers increased by 3.273 times, which was 2.642 times after correction, and the incidence risk of CC carriers increased by 3.825 times, which was 3.281 times after correction. Conclusion: The polymorphism of ABCG2 gene rs3114018 is associated with the incidence of primary gout in Haikou, which is a risk factor for the incidence of gout, and is expected to provide a new genetic diagnostic marker for primary gout in Haikou.
Key wordsGout    ABCG2    Single nucleotide polymorphism    Rs3114018
    
基金资助:海南省自然科学基金资助项目,(编号:20168302)
通讯作者: 王雪娇   
引用本文:   
周胃雯, 王雪娇, 唐小波, 孙少清, 符丽娜, 林先珍. 海口市原发性痛风患者ABCG2基因rs3114018位点单核苷酸多态性分析[J]. 河北医学, 2021, 27(8): 1317-1321.
ZHOU Weiwen, TANG Xiaobo, SUN Shaoqing, et al. An Analysis of Single Nucleotide Polymorphism at Rs3114018 of ABCG2 Gene in Patients with Primary Gout in Haikou City. HeBei Med, 2021, 27(8): 1317-1321.
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http://www.hbyxzzs.cn/CN/10.3969/j.issn.1006-6233.2021.08.018     或     http://www.hbyxzzs.cn/CN/Y2021/V27/I8/1317
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