细胞色素P450基因单核苷酸多态性与山东沿海地区汉族男性痛风易感性的关系

Association of single nucleotide polymorphisms of cytochrome P450 gene with susceptibility to gout in ethnic Han males from coastal regions of Shandong province

目的探讨细胞色素P450基因单核苷酸多态性（single nucleotide polymorphism，SNP）与山东沿海地区汉族男性痛风易感性的关联。方法选取山东沿海地区480例汉族男性痛风患者和480名汉族男性健康体检者，应用GoldenGate基因型分析技术，检测CyP2C8基因rs2275620位点、CYP2E1基因rs2070676位点、CYP481基因rs837395位点、TBXAS 基因rsl94150位点的基因型。用X2检验进行关联性分析。结果痛风组CYP2C8基因rs2275620位点TT、AT、AA基因型频率及A、T等位基因频率与对照组比较，差异无统计学意义（P=0．88；P=0．97）；CYP2E1基因rs2070676位点CC、CG、GG基因型频率及C、G等位基因频率与对照组比较，差异无统计学意义（P=0．24；P=0．09）；CyP4励基因rs837395位点TT、AT、AA基因型频率及A、T等位基因频率与对照组比较，差异无统计学意义（P=0．88；P=0．97）；TBXASl基因rsl94150位点TT、AT、AA基因型频率及A、T等位基因频率与对照组比较，差异无统计学意义（P=0．15；P=0．06）。结论编码细胞色素P450酶家族的CYP2C8rs2275620A／T、CYP2E1rs2070676C／G、CYP481rs837395A／T、TBXASl基因的rsl94150A／T位点多态性与山东沿海地区汉族男性痛风易感性可能没有关联。但需进一步扩大样本量，在不同地区、种族和更多的位点进一步验证。

Objective To assess the association of cytochrome P450 gene single nucleotide polymorphisms （SNPs） with susceptibility to gout in ethnic Han males from coastal regions of Shandong province. Methods Four hundred and eighty male patients with gout and 480 healthy male controls were included. Genotyping was carried out with a custom Illurnina GoldenGate Genotyping assay to detect SNP rs2275620 of CYP2C8 gene, SNP rs2070676 of CYP2E1 gene, SNP rs837395 of CYP4B1 gene, and SNP rs194150 of TBXAS1 gene. The association was assessed with 3（z test. Results No significant difference has been found between the two groups in regard to the genotypic and allelic frequencies of the TT, AT, AA genotypes and A, T alleles of the SNP rs2275620 of the CYP2C8 gene （P=0.88; P=0.97）, the CC, CG, GG genotypes and C,G alleles of SNP rs2070676 of the CYP2E1 gene （P=0.24; P=0.09）, the TT, AT, AA genotypes and A, T alleles of SNP rs837395 of the CYP4B1 （P=0.88; P=0.97）, and TT, AT, AA genotypes and the A,T alleles of SNP rs194150 of TBXAS1 gene （P=0. 15; P：0.06）. Conclusion This study has identified no association of SNP loci rs2275620 （A/T） of CYP2C8, rs2070676 （C/G） of CYP2E1, rs837395 （A/T） of CYP4B1 and rs194150 （A/T） of TBXASJ with gout in ethnic Han males from coastal regions in Shandong province. However, our result needs to be replicated in larger sets of patients collected from other regions and populations.