摘要
目的探讨三磷酸腺苷结合转运蛋白G2（ABCG2）基因rs2231142位点单核苷酸多态性（SNP）与高尿酸血症的相关性。方法纳入2014年2月～2017年10月于我院就诊的高尿酸血症患者60例为研究组，选取60例门诊体检者为对照组，应用多重高温连接酶检测反应（iMLDR）进行ABCG2基因rs2231142位点SNP分析，并分析其与高尿酸血症的相关性。结果ABCG2基因rs22型31142位点SNP以CA型为主，A等位基因频率为39．17％。研究组中13．33％为AA基因型，58．33％为CA基因，28．33％为CC基因型；研究组A等位基因频率（42．50％）明显高于对照组（23．33％，P〈0．01）。CA基因型、AA基因型、A等位基因分别增加1．83倍（OR=2．83，95％CI1．532-6．137，P=0．005）、4．58倍（OR=5．58，95％c，1．035-7．837，P=0．003）和2．23倍（OR=3．23，95％CI2．016-5．835，P=0．001）的高尿酸血症患病风险。校正相关影响因素后，CA基因型、AA基因型、A等位基因男性患高尿酸血症的风险高于女性（P〈0．05），肌酐清除率〈60ml／min者患高尿酸血症的风险高于肌酐清除率≥60ml／min者（P〈0．05）。结论ABCG2基因的rs2231142位点SNP与高尿酸血症密切相关，该位点的CA基因型、AA基因型及A等位基因均与高尿酸血症的风险增加有关，性别与肌酐清除率也为其影响因素。
Objective To investigate the association of adenosine binding transporter G2 （ABCG2） gene rs2231142 single nucleotide polymorphisms （SNP） with hyperuricemia. Methods A total of 60 patients with hyperuricemia were selected as the study group and 60 cases for outpatient medical examination at the same period were selected as the control group. Analysis of ABCG2 gene rs2231142 SNP was conducted by improved multiple ligase detection reaction （iMLDR） and the correlation between SNP and hyperuricemia was analyzed. Results The main genotype of ABCG2 gene rs2231142 SNP was CA genotype,and the A allele frequency was 39. 17%. In study group, 13.33% patients were AA genotype,58.33% were CA genotype and 28.33% were CC genotype. A allele frequency in study group （42.50%） was statistically higher than that in the control group （23.33%, P 〈 0. 01 ）. CA genotype, AA genotype and A allele increased the risk of hyperuricemia by 1.83 times （ OR = 2. 83,95% CI 1. 532-6. 137,P=0. 005）, 4.58 times （OR =5. 58,95%CI 1. 035-7. 837,P =0. 003） and 2.23 times （ OR = 3.23,95% CI 2. 016-5. 835, P = 0. 001 ）, respectively. After correcting the relevant influencing factors, the risks of hyperuricemia in males with CA genotype, AA genotype and A allele were higher than those in females （P 〈 0.05） and the risks of hyperuricemia in cases with creatinine clearance rate 〈 60 ml/min were higher than those in creatinine clearance rate ≥ 60 ml/min cases. Conclusion The rs2231142 SNP of ABCG2 gene is closely related to hyperuricemia. The CA genotype, AA genotype and A allele in this locus are associated with the increased risk of hyperurieemia. Sex and creatinine clearance rate arc also the influencing factors.
作者
余莹莹
石天
唐生尧
刘国生
刘俊龙
袁杰
Yu Yingying;Shi Tian;Tang Shengyao(Department of Clinical Laboratory,University Hospital of Hubei University for Nationalities,Enshi 445000,China)
出处
《临床内科杂志》
CAS
2018年第11期757-760,共4页
Journal of Clinical Internal Medicine
