ABCG2、SLC2A9、SLC17A3和PRKG2基因单核苷酸位点多态性与哈尼族人群痛风的关系  

Association of ABCG2,SLC2A9,SLC17A3 and PRKG2 SNPs Variants with Gout in the Hani Population in China

作　　者：李东云[1] 冮顺奎[1] 李捷 张明星 李雷[4] LI Dong-yun;GANG Shun-kui;LI Jie;ZHANG Ming-xing;LI Lei(Dept.of Preventive Treatment ofDisease,Kunming Municipal Hospital of Traditional Chinese Medicine,Kunming Yunnan 650051;Dept.of Specialist Clinics,Ninger Hani and Yi Autonomous County Hospital of traditional Chinese Medicine,Ninger Yunnan 665100;Dept.of Ophthalmology,Kunming Municipal Hospital of Traditional Chinese Medicine,Kunming Yunnan 650051,China;Dept.of Traditional Chinese Medicine Orthopedics,Kunming Municipal Hospital of Traditional Chinese Medicine,Kunming Yunnan 650051,China)

机构地区：[1]昆明市中医医院治未病科,云南昆明650051 [2]宁洱哈尼族彝族自治县中医医院专家门诊,云南宁洱665100 [3]昆明市中医医院眼科,云南昆明650051 [4]昆明市中医医院中医骨科,云南昆明650051

出　　处：《昆明医科大学学报》2021年第3期54-60,共7页Journal of Kunming Medical University

基　　金：云南省科学技术厅-云南中医学院应用基础研究联合专项中医联合面上项目[2017FF117(-046)]。

摘　　要：目的探讨哈尼族和汉族人群ABCG2、SLC2A9、SLC17A3和PRKG2基因单核苷酸多态性(single nucleotide polymorphism,SNP),研究这四个基因上的五个SNP位点(rs2231142、rs6855911、rs1014290、s1165205和rs7688672)在哈尼族和汉族痛风人群中的遗传特征和遗传机制。方法选取100例哈尼族痛风患者、126例哈尼族健康对照者、100例哈尼族痛风患者、108例汉族健康对照者,利用PCR扩增测序结合SNaPshot多重分析技术对五个SNP位点进基因分型,采用统计软件SPSS20.0进行分析。结果在哈尼族人群中,rs2231142位点的基因型频率(P=0.002)和等位基因频率(P=0.024)与高尿酸血症显著相关。在汉族人群中,rs7688672位点的基因型频率(P=0.018)和等位基因频率(P=0.034);rs1165205位点的基因型频率(P=0.037)与高尿酸血症显著相关。结论ABCG2基因中rs2231142位点、SLC17A3基因中rs1165205位点和PRKG2基因中rs7688672位点与痛风发病显著相关,为痛风和高尿酸血症的筛查、诊断和治疗提供了潜在的靶点。Objective To analyze the genetic characteristics and genetic mechanisms in the Hani and Han population by studying the association of five single nucleotide polymorphisms(SNPs)in four gene with gout.Methods A total of 100 Hani gout group,126 Hani normal control group,100 Hani gout group,108 Han normal control group were enrolled in this study.Genotyping of the ABCG2,SLC2 A9,SLC17A3 and PRKG2 was determined by cloning and sequencing of PCR amplicons and SNaPshot.SPSS version 20.0 was used for statistical calculations.Results The results showed that the genotype(P=0.002)and allele(P=0.024)frequency at the rs2231142 site was significantly associated with Hyperuricemia in Hani populations.In the Han populations,the genotype(P=0.018)and allele(P=0.034)frequency at the rs7688672 site was significantly associated with Hyperuricemia.In addition,the genotype frequency at the rs1165205 site was significantly associated with Hyperuricemia in Han populations(P=0.037).Conclusion ABCG2 rs2231142,SLC17 A3 rs1165205 and PRKG2 rs7688672 polymorphisms are able to affect the risk of gout,which provides a potential candidate biomarker for screening,diagnosis,and treatment of gout and Hyperuricemia.

关 键 词：痛风 高尿酸血症 单核苷酸多态性 哈尼族 

分 类 号：R589[医药卫生—内分泌]