Association of ABCG2 gene C421A polymorphism and susceptibility of primary gout in Han Chinese males / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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% CI1.36-4.90 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).</p><p><b>CONCLUSION</b>The C421A SNP, in particular AA phenotype, may be associated with susceptibility of primary gout in Han Chinese males.</p>