福建省泉州地区人群SLC2A9 SLC17A3 ABCG2基因单核苷酸多态性与痛风易感性的研究  

Association of single nucleotide polymorphisms of SLC2A9, SLC17A3 and ABCG2 gene with goutsusceptibility in Quanzhou residents

作　　者：许超尘 游玉权 王清瑶[2] 杨会勇 李忆农[3] 

机构地区：[1]福建省泉州市正骨医院风湿科,362000 [2]华侨大学生物医学工程学院分子药物研究院 [3]福建中医药大学福建省人民医院风湿免疫科

出　　处：《中华风湿病学杂志》2013年第2期114-118,I0002,共6页Chinese Journal of Rheumatology

基　　金：基金项目：福建省泉州市技术研究与开发重点项目（20llz5,2011230）

摘　　要：目的探讨泉州地区群体的SLC2A9、SLCl7A3、ABCG2基因单核苷酸多态性（SNP）与痛风易感性之间的关联。方法选取154例痛风患者和160名健康对照者，应用三引物法对SLC2A9、SLCl7A3、ABCG2基因上3个SNP进行检测，并利用r检验分析不同基因型与原发性痛风发病的相关性，探讨痛风发病机制以及了解泉州地区痛风发病特征。结果rsl6890979高风险基因型携带频率在痛风人群和健康人群携带频率分别为93．5％和70．o％，差异具有统计学意义坼=55．377，P〈0．01）；高风险等位基因携带频率分别为79．9％和48．4％，差异具有统计学意义（X2=67．182，P〈0．01）；rs2231142高风险基因型携带频率分别为68．8％和38．7％，差异具有统计学意义（X2=29．129，P〈0．01）；高风险等位基因携带频率分别为43．5％和23．4％，差异具有统计学意义（g=28．468，P〈O．01）；瑙1165205是一个保护性的SNP，低风险基因型携带频率分别为42．2％和45．6％，差异无统计学意义（，一0．373，P=0．571）；高风险等位基因携带频率分别为26．0％和28．1％，差异无统计学意义眙0．270，P=-0．364）。结论SLC2A9、ABCG2基因SNP位点rsll65205和rs2231142可以作为泉州地区原发性痛风易感性一个遗传标志，而SLCl7A3基因的SNP（rsl165205）则与泉州地区原发性痛风发病的相关性不大。[Abstract] Objective To explore the association between SLC2A9, SLC17A3, ABCG2 single nucleo- tide polymorphisms and gout susceptibility in Quanzhou. Methods One hundred and fifty-four cases of gout patients and 160 healthy controls were selected, single nueleotide polymorphisms （SNP） of SLC2A9 SLC17A3, ABCG2 with tri-primer polymerase chain reaction （PCR） were tested and the relation between different geno- types and primary gout prevalence were analyzed. Results High risk genotype frequency of rs16890979 was 93.5% and 70.0% in patients and healthy people,respectively （the difference of genotype frequency between the two groups was statistically significant （~=55.377, P〈0.01 ）. High risk allele frequency was 79.9% and 48.4% in patients and healthy people, respectively （allele frequency in different population was statistically significant, X2=67.128, P〈0.01 ）. High risk genotype frequency of rs2231142 was 68.8% and 38.7% in pati- ents and healthy people, respectively （the difference of the genotype frequency was statistically significant, X2 =29.129, P〈0.01）;High risk allele frequency was 43.5% and 23.4% in patients and healthy people, respectively （the difference of allele frequency was statistically significant, A.z=28.468, P〈0.01 ）; rs1165205 was a protective SNP, low risk genotype frequeney was 42.2% and 45.6% in patients and healthy people, respectively （the difference of genotype frequency was statistically significant, X2=0.373, P=0.571 ）; High risk allele frequency was 26.0% and 28.1% in patients and healthy people, respectively （the difference of allelefrequency was not statistically significant, X2=0.270, P=0.364）. Conclusion SNP loci rs16890979 of SLC2A9 gene and rs2231142 of ABCG2 gene can be used as genetic markers for primary gout susceptibility in the Quanzhou area, but SNP loci rs1165205 of SLC17A3 gene has little correlation with the prevalence of primary gout in Quanzhou residents.

关 键 词：疾病易感性 多态性 单核苷酸 痛风 

分 类 号：R739.41[医药卫生—肿瘤]