目的探讨2型糖尿病(type2diabetesmellitus,T2DM)易感基因多态性位点(singlenucleotidepolymorphism,SNP)与山东沿海地区汉族男性痛风的相关性。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为对照组,应用IlluminaGoldenGate基因芯片对研究人群的DNA进行分型,应用Y。检验进行关联性分析。结果7个SNPs位点基因型频率及等位基因频率与对照组比较差异均无统计学意义(均P〉0.05)。结论T2DM易感基因WNT5B(rsl0773971、rs4766398)、JAZF1(rs10225163)、BDKRB2(rs2069590)、HGF(rs5745709)、OTOP1(rsl991914)、COLJ8A1(rs2236479)位点多态性与山东沿海地区汉族男性痛风患者易感性无关联性,但仍需进一步扩大样本量,并选择不同地区、种族和更多的位点进一步验证。
Objective To assess the association of single nucleotide polymorphisms (SNPs) of susceptibility genes of type 2 diabetes mellitus (T2DM) with liability to gout among ethnic Han Chinese males from coastal region of Shandong province. Methods Seven SNPs within the susceptibility genes of T2DM, including rs10773971 (G/C) and rs4766398(CJ/C) of WNTSB gene, rs19225163 (G/C) of JAZF:I gene, rs2069590(T/A) of BDKRB2 gene, rs5745709 (G/A) of HGF gene, rs1991914 (C/A) of OTOP1 gene and rs2236479 (G/A) of COL18A1 gene, were typed with a custom-made Illumina GoldenGate Genotyping assay in 480 male patients with gout and 480 male controls. Potential association was assessed with the X2 test. Results No significant difference was detected for the 7 selected SNPs in terms of genotypic and allelic frequencies (P~0.05). When age and body mass index (BMI) were adjusted, the 7 genetic variants still showed no significant association with gout. Conclus|on The genotypes of the 7 selected SNPs are not associated with gout in ethnic Han Chinese male patients from the coastal region of Shandong province. However, the results need to be replicated in larger sets of patients collected from other regions and populations.