SLC2A9基因rs2241480位点T/C多态性与深圳地区高尿酸血症之间相关性
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摘要
目的了解可溶性载体2家族成员9(SLC2A9)基因rs2241480位点T/C多态性分布差异及其与深圳地区高尿酸血症(Hyperuricemia,HUA)之间相关性,为HUA诊断、治疗及预防提供科学依据。方法随机选取2017年2月—2018年7月来医院就诊并确诊为HUA患者172例为高尿酸组,同时选择同期健康人群120名对照组,分别采用SequenomMassArray iPlexGold技术对两组人群的SLC2A9基因rs2241480位点T/C多态性进行检测,并对检测结果进行统计分析。结果高尿酸组和对照组SLC2A9基因rs2241480位点T/C多态性实际基因型分布与Hardy-Weinberg平衡状态下的理论基因型分布差异无统计学意义(χ2=1.1632,P>0.05),符合Hardy-Weinberg遗传平衡定律,具有群体代表性;高尿酸组SLC2A9基因rs2241480位点CC基因型及C等位基因检出率分别为47.09%和65.70%,明显高于对照组的21.67%和36.25%,差异有统计学意义(χ2=3.1938-4.9057,P<0.05);高尿酸血症男性患者SLC2A9基因rs2241480位点TT、TC、CC基因型及T、C等位基因检出率分别为15.79%,35.79%,48.42%,33.68%及66.32%,与女性患者之间差异均无统计学意义(χ2=0.5217-1.3524,P>0.05)。结论 SLC2A9基因rs2241480位点T/C多态性分布与深圳地区高尿酸血症有一定的相关性,但与性别无关,其CC基因型及C等位基因可能是本区高尿酸血症发病的危险遗传基因之一。
Objective:To understand the difference of T/C polymorphism distribution of soluble vector 2 family member 9(SLC2 A9)gene rs2241480 and its correlation with Hyperuricemia(HUA)in shenzhen area,and to provide scientific basis for HUA diagnosis,treatment and prevention. Methods:172 cases of HUA patients admitted to the hospital from February 2017 to July 2018 were randomly selected as the hyperuric acid group. Meanwhile,120 healthy people in the same period were selected as the control group. The T/C polymorphism of SLC2 A9 gene rs2241480 was detected by Sequenom Mass Array iPlex Gold technology,and the test results were statistically analyzed. Results:The actual genotype distribution of SLC2 A9 gene rs2241480 in the high-uric acid group and the control group had no statistically significant difference with the theoretical genotype distribution at Hardy Weinberg equilibrium(χ2=1.1632,P>0.05). The detection rates of CC genotype and C allele at rs2241480 of SLC2 A9 gene in the high uric acid group were 47.09% and 65.70%,respectively,which were significantly higher than 21.67% and 36.25%in the control group,respectively,and the differences were statistically significant(χ~2=3.1938～4.9057,P<0.05). The detection rates of TT,TC,CC genotypes,T and C alleles at the rs2241480 site of SLC2 A9 gene in hyperuricemia in male patients were 15.79%,35.79%,48.42%,33.68% and 66.32%,respectively,There was no statistically significant difference between the two groups(χ~2=0.5217～1.3524,P>0.05). Conclusion:The T/C polymorphism distribution of SLC2 A9 gene rs2241480 has a certain correlation with hyperuricemia in shenzhen area,but has nothing to do with gender. Its CC genotype and C allele may be one of the risk genetic genes of hyperuricemia in this area.
Objective:To understand the difference of T/C polymorphism distribution of soluble vector 2 family member 9(SLC2 A9)gene rs2241480 and its correlation with Hyperuricemia(HUA)in shenzhen area,and to provide scientific basis for HUA diagnosis,treatment and prevention. Methods:172 cases of HUA patients admitted to the hospital from February 2017 to July 2018 were randomly selected as the hyperuric acid group. Meanwhile,120 healthy people in the same period were selected as the control group. The T/C polymorphism of SLC2 A9 gene rs2241480 was detected by Sequenom Mass Array iPlex Gold technology,and the test results were statistically analyzed. Results:The actual genotype distribution of SLC2 A9 gene rs2241480 in the high-uric acid group and the control group had no statistically significant difference with the theoretical genotype distribution at Hardy Weinberg equilibrium(χ2=1.1632,P>0.05). The detection rates of CC genotype and C allele at rs2241480 of SLC2 A9 gene in the high uric acid group were 47.09% and 65.70%,respectively,which were significantly higher than 21.67% and 36.25%in the control group,respectively,and the differences were statistically significant(χ~2=3.1938～4.9057,P<0.05). The detection rates of TT,TC,CC genotypes,T and C alleles at the rs2241480 site of SLC2 A9 gene in hyperuricemia in male patients were 15.79%,35.79%,48.42%,33.68% and 66.32%,respectively,There was no statistically significant difference between the two groups(χ~2=0.5217～1.3524,P>0.05). Conclusion:The T/C polymorphism distribution of SLC2 A9 gene rs2241480 has a certain correlation with hyperuricemia in shenzhen area,but has nothing to do with gender. Its CC genotype and C allele may be one of the risk genetic genes of hyperuricemia in this area.
引文
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[2]张翻弟,张亚弟,赵丽,等.SLC2A9基因和SLC22A12基因与高尿酸血症关联性研究[J].现代预防医学,2017,44(7):1332-1336.
[3]赵丽,张翻弟,张亚弟,等.SLC22A12基因rs893006和SLC2A9基因rs11942223位点与高尿酸血症关联性研究[J].中华疾病控制杂志,2017,21(7):693-697.
[4]安雅婷,杨培树,王雅琦,等.高尿酸血症发病机制及药物治疗[J].天津药学,2015,27(5):72-75.
[5]Feigin VL,Krishnamurthi RV,Parmar P,et al.GBD 2013 Writing Group:GBD 2013 Stroke Panel Experts Group.update on the Global Burden of Ischemic and Hemorrhagic Stroke in 1990-2013:The GBD 2013 Study[J].Neuroepidemiology,2015,45(3):161-176.
[6]孙红娟,杜程钢,赵庆凯,等.城镇人群的高尿酸血症检出率及相关危险因素分析[J].海南医学,2018,29(8):1104-1107.
[7]刘晓琳,顾建钧,阮晓楠,等.上海市浦东新区高尿酸血症流行状况及其危险因素研究[J].中国慢性病预防与控制,2017,25(3):165-170.
[8]Guan S,Tang Z,Fang X,et a1.Prevalence of hyperuricemia among Beijing post-menopausal women in 10 years[J]. Arch Gerontol Geriatr,2016,64:162-166.
[9]Hisatome I,Kuwabara M.Hyperurieemia plays pivotal role in progression of kidney disease[J].Circ J,2016,80(8):1710-1711.
[10]Acevedo A,Benavides J,Chowdhury M,et al.Hyperurieemia and eardiovascular disease in patients with hypertension[J].Conn Med,2016,80(2):85-90.
[11]PalazzuoliA,RuoccoG,PellegriniM,etal.Prognostic significance of hyperuficemia in patients with acute heart failure[J].Am J Cardiol,2016,117(10):1616-1621.
[12]申洋,张静茹,蒋莹,等.西部某大型国企员工高尿酸血症患病情况及其影响因素研究[J].中华疾病控制杂志,2016,20(10):991-994.
[13]郭丹丹喻颖杰余晓辉,等.北京市3566名中小学生高尿酸血症患病情况及相关因素[J].首都公共卫生,2018,12(2):77-80.
[14]魏守超,刘志辉,刘君玲.亚甲基四氢叶酸还原酶基因C677T多态性与中国山东地区汉族人群缺血性卒中、高尿酸血症的相关性[J].国际脑血管病杂志,2016,24(11):1004-1009.
[15]冯琳琳,张微,张浩,等.体检人群血清同型半胱氨酸水平与MTHFR C677T基因型频率的调查[J].中国卫生检验杂志,2015,25(13):2225-2226,2229.
[16]熊安,姚麒,余晶波.高尿酸血症和痛风易感基因单核苷酸多态性研究新进展及应用[J].宁波大学学报(理工版),2016,29(2):116-121.
[17]顾婉红,王攀,钟倩怡,等.台州市健康体检人群MTHFR C677T基因和MTHFR A1298C基因多态性研究[J].预防医学,2018,30(4):370-373.
[18]章晓鹰,张珏亚.甲基四氢叶酸还原酶基因多态性研究进展[J].中华检验医学杂志,2016,39(7):544-547.
[19]罗艺,张洪德,陈思祖,等.华南地区汉族人群ABCG2基因多态性与原发性痛风的相关性[J].实验与检验医学,2018,36(4):502-506.
[20]马骁,张志欣,蔡剑平,等.中国高尿酸血症患者HLA-B58:01基因的人群分布[J].国际检验医学杂志,2016,37(24):3395-3399.
[21应颖,李蓁,黄海燕,等.P2RX7基因单核苷酸多态性与原发性痛风及高尿酸血症的相关性[J].临床荟萃,2017,32(1):59-63.
[22]夏燕,陆光辉,黄琼,等.ABCG2基因rs3114018单核苷酸多态性与武陵山地区痛风及高尿酸血症的相关性研究[J].中国免疫学杂志,2018,34(7):1054-1058.
[23]周兆伟,李长贵.原发性高尿酸血症及痛风相关易患基因的研究进展[J].医学综述,2015,21(13):2305-2308.
[24]韩珠,黄东爱,张瑞城,等.人尿酸盐转运子1第3内含子突变对海南黎族人群高尿酸血症发生的影响[J].中国老年学杂志,2017,37(13):3207-3208.
[25]陆娜,修浩,崔开眉,等.人尿酸盐转运子URAT1基因rs893006多态性与男性高尿酸血症的相关性[J].海南医学,2017,28(21):3460-3462.
[26]王丽娟.银川地区尿酸转运相关基因多态性与高尿酸血症相关性研究[J].北华大学学报(自然科学版),2017,18(6):777-780.
[27]Kim YS,Kim Y,Park G,et al.Genetic analysis of ABCG2 and SLC2A9 gene polymoiphisms in gouty arthritis in a Korean population[J].The Korean Journal of Internal Medicine,2015,30(6):913-920.