BACKGROUND: This study investigated the relationship between hyperuricemia (with phlegm/non-phlegm block) and ABCG2 gene polymorphism in Han and Uygur people from Xinjiang, China.

MATERIAL AND METHODS: We recruited 600 hyperuricemia patients with phlegm/non-phlegm block. Genomic DNA was extracted from the whole blood. Gene polymorphism was classified by SnaPshot method.

RESULTS: The SNP loci rs2725220 and rs2231137 of the ABCG2 gene, but not rs2231142, were significantly different between patients with non-phlegm block and phlegm block (P<0.05). The rs2231142 allele G was the protective factor in Uygur hyperuricemia patients. In both Han and hyperuricemia patients, the rs2725220 allele G was a protective factor and the rs2231137 allele C was a risk factor. For non-phlegm-block hyperuricemia, the rs2231142 and rs2231137 genotypes were significantly different between Uygur and Han patients (P<0.05). The rs2231142 allele G was 1.563 times higher in the Uygur patients compared with Han, and rs2231137 allele C was 1.673 times higher in the Uygur patients compared with the Han. For phlegm-block hyperuricemia, rs2231142 allele G was 1.397 times higher in the Uygur patients compared with the Han.

CONCLUSIONS: ABCG2 gene rs2231137 with more allele C tends to be phlegm-block type and rs2725220 with more allele G tends to be non-phlegm-block type. In the Uygur hyperuricemia patients, ABCG2 gene rs2231142 with more allele G tends to be non-phlegm-block type. Allele C of rs2231137 and allele G of rs2231142 in ABCG2 gene are more likely to be found in the Uygur people.

Keywords: Biochemistry, Genetics, hyperuricemia, Polymorphism, Genetic