Li Fa-gui, Chu Yi, Meng Dong-mei, Tong Ya-wen
Department of Healthcare, Jiaonan People's Hospital, Qingdao, Shandong, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):683-5. doi: 10.3760/cma.j.issn.1003-9406.2011.06.019.
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.
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.
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 (chi-square =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; chi-square=6.82, P=0.009, OR=1.67, 95% CI: 1.54-2.27 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).
The C421A SNP, in particular AA phenotype, may be associated with susceptibility of primary gout in Han Chinese males.
评估ATP结合盒亚家族G（白）成员2（ABCG2）基因第5外显子C421A单核苷酸多态性（SNP）与中国汉族男性原发性痛风易感性之间的关联。
对200例男性原发性痛风患者和235例对照者，采用聚合酶链反应（PCR）和直接测序法分析C421A位点的基因型。用自动生化分析仪测定血糖、尿酸、总胆固醇、甘油三酯、肌酐和尿素氮。
与对照组相比，痛风患者rs2231142 SNP的AA基因型和A等位基因频率更高（基因型：22.5%对8.5%；等位基因：44.9%对32.3%）。与痛风的关联具有统计学意义（χ² = 15.91，P < 0.001，粗比值比（OR）= 3.02，95%可信区间（CI）：1.36 - 4.90；年龄校正后的OR = 1.80，95% CI：1.32 - 2.45，显性模型；χ² = 6.82，P = 0.009，OR = 1.67，95% CI：1.54 - 2.27，隐性模型）。痛风患者的血糖、尿酸、甘油三酯、肌酐和尿素氮水平显著高于对照组（P < 0.001）。
C421A SNP，尤其是AA表型，可能与中国汉族男性原发性痛风易感性相关。
