ABCG2基因第5外显子C421A多态与中国汉族男性原发性痛风的相关性研究

Association of ABCG2 gene C421A polymorphism and susceptibility of primary gout in Han Chinese males

目的研究三磷酸腺苷结合转运蛋白G超家族成员2基因（ATP—bindingcassette，sub-familyG（WHITE），member2；ABCG2）第5外显子C421A单核苷酸多态（singlenucleotidepolymorphism，SNP）（rs2231142）与中国汉族男性原发性痛风发病的相关性。方法采用PCR扩增及序列测定方法，对200例原发性痛风和235名对照的ABCG2基因C421ASNP进行分析。采用全自动生化仪检测血糖、甘油三酯、尿酸、胆固醇、肌酐、尿素氮等生化指标。结果ABCG2基因C421ASNP的A等位基因频率在痛风组显著高于对照组（分别为44．9％和32．3％，P〈0．01）；AA基因型与原发性痛风的患病显著相关（x^2=15．91，P％0．01，crudeOR=3．02，95％CI：1．36～4．90）；AA基因型个体发生原发性痛风的风险为CC基因型和CA基因型的3．02倍，年龄校正后为1．8倍（OR=1．8，Y。=15．91，P〈0．01，95％CI：1．32～2．45）。痛风组血糖、甘油三酯、尿酸、肌酐、尿素氮均显著高于对照组（P〈0．01）。结论ABCG2基因的C421ASNP多态，尤其是AA基因型可能与中国汉族男性发生原发性痛风密切相关。

Objective To assess the association between a C421A single nucleotide polymorphism （SNP） in exon 5 of ATP-binding cassette, sub-family G （WHITE）, member 2 （ABCG2）gene and susceptibility of primary gout in Han Chinese males. Methods For 200 male patients with primary gout and 235 controls, the genotype of C421A locus was analyzed by PCR and direct sequencing. Blood glucose, uric acid, total cholesterol, triglycerides, creatinine and urea nitrogen was measured by an automatic biochemical analyzer. Results Compared with the controls, there was a higher frequency for AA genotype and A allele of the rs2231142 SNP in gout patients （22.5% vs. 8.5% by genotype; 44.9% vs. 32.3% by allele）. The association with gout reached significance （X^2 = 15.91, P=0. 001, crude OR= 3.02, 95% CI： 1.36-4.90 and OR （adjusted by age）= 1.80, 95% CI： 1.32-2. 45 by dominant mode; ;（2=6.82, P=O. 009, OR= 1.67, 95% CI：I. 54-2.27 by recessive mode）. Blood glucose, uric acid, triglycerides, creatinine and urea nitrogen levels in gout patients were significantly higher than those of controls （P〈0. 001）. Conclusion The C421A SNP, in particular AA phenotype, may be associated with susceptibility of primary gout in Han Chinese males.