ABCG2、SLC2A9基因多态性与内蒙古地区蒙古族和汉族痛风易感性关联研究OA
Association study of ABCG2 and SLC2A9 gene polymorphisms with gout susceptibility in Mongolian and Han populations in Inner Mongolia
目的:探索ABCG2和SLC2A9基因多态性对内蒙古地区蒙古族与汉族痛风易感性的影响,为痛风的遗传发病机制提供依据,并为不同民族的个体化治疗策略提供参考.方法:纳入内蒙古地区的蒙古族和汉族痛风患者及健康体检者,使用时间飞行质谱技术检测ABCG2(rs13120400、rs1481012、rs2231142、rs3114018)和SLC2A9(rs1014290、rs16891234、rs3733590、rs3733591、rs3775948、rs4697701、rs9999470)基因型.采用多种遗传模型分析ABCG2 和SLC2A9单核苷酸多态性(single nucleotide polymorphism,SNP)与痛风的关联,构建单倍型并评估SNP组合对痛风的影响.分析基因型在不同民族间的分布差异.结果:各组中,ABCG2 rs1481012、rs2231142 和 SLC2A9 rs3733591 变异增加痛风风险(P<0.05),SLC2A9 rs3775948、rs4697701、rs1014290、rs3733590、rs16891234、rs9999470和ABCG2 rs3114018变异减少痛风风险(P<0.05).其中,rs1481012和rs2231142变异在汉族中明显增加痛风风险,但在蒙古族中无明显关联;蒙古族中特定SNP(如rs16891234和rs9999470)变异显示出保护作用,而在汉族中无类似作用.结论:ABCG2和SLC2A9基因多态性影响内蒙古地区痛风发病.汉族与蒙古族比较,ABCG2基因多态性分布存在差异,SLC2A9基因多态性分布未发现明显差异.
Objective:To investigate the influence of ABCG2 and SLC2A9 gene polymorphisms on gout susceptibility in Mon-golian and Han populations in Inner Mongolia,aiming to provide insights into the genetic mechanisms underlying gout and to in-form individualized treatment strategies for different ethnic groups.Methods:Gout patients and healthy controls from the Mongo-lian and Han populations in Inner Mongolia were included.Genotyping of ABCG2(rs13120400,rs1481012,rs2231142,and rs3114018)and SLC2A9(rs1014290,rs16891234,rs3733590,rs3733591,rs3775948,rs4697701,and rs9999470)was conduct-ed using time-of-flight mass spectrometry.Various genetic models were employed to analyze the association between ABCG2 and SLC2A9 single nucleotide polymorphisms(SNP)and gout.Haplotype construction and evaluation of SNP combinations were per-formed to assess their impact on gout,and genotype distribution differences between the two ethnic groups were analyzed.Re-sults:ABCG2 rs1481012,rs2231142,and SLC2A9 rs3733591 variants increased the risk of gout(P<0.05),while variants in SLC2A9(rs3775948,rs4697701,rs1014290,rs3733590,rs16891234,and rs9999470)and ABCG2 rs3114018 were associated with a reduced gout risk(P<0.05).Specifically,rs1481012 and rs2231142 variants significantly increased gout risk in the Han population but showed no significant association in the Mongolian population.Certain SNPs,such as rs16891234 and rs9999470,demonstrated protective effects in the Mongolian group,which were not observed in the Han group.Conclusion:ABCG2 and SLC2A9 gene polymorphisms influence gout susceptibility in the Inner Mongolia region.The distribution of ABCG2 gene poly-morphisms differs between the Han and Mongolian populations,whereas no significant differences were found in the distribution of SLC2A9 gene polymorphisms.
杨丽娟;张智敏;吕新亮;李国华;高翔;王平乐;吴昊;董秋梅
内蒙古医科大学中医学院,内蒙古 呼和浩特 010107||内蒙古自治区中医医院风湿病科,内蒙古 呼和浩特 010020内蒙古医科大学中医学院,内蒙古 呼和浩特 010107内蒙古自治区中医医院风湿病科,内蒙古 呼和浩特 010020内蒙古自治区中医医院风湿病科,内蒙古 呼和浩特 010020锡林郭勒盟蒙医医院检验科,内蒙古 锡林浩特 026099巴彦淖尔市医院风湿免疫科,内蒙古 巴彦淖尔 015002内蒙古医科大学中医学院,内蒙古 呼和浩特 010107内蒙古医科大学中医学院,内蒙古 呼和浩特 010107
医药卫生
痛风性关节炎ABCG2SLC2A9单核苷酸多态性(SNP)民族差异
Gouty arthritisABCG2SLC2A9Single nucleotide polymorphismEthnic differences
《海南医科大学学报》 2026 (4)
248-257,10
This study was supported by the Inner Mongolia Autonomous Region Science and Technology Plan Project(2020GG0194)High Level Clinical Specialty Construction Technology Project of Public Hospitals in the Capital Region of Inner Mongolia Autonomous Region Health Commission(2023SGGZ058)Inner Mongolia Medical University Campus Project(YKD2022LH080) 内蒙古自治区科技计划项目(2020GG0194)内蒙古自治区卫生健康委首府地区公立医院高水平临床专科建设科技项目(2023SGGZ058)内蒙古医科大学校级项目(YKD2022LH080)
评论