海南医科大学学报2026,Vol.32Issue(4):248-257,10.DOI:10.13210/j.cnki.jhmu.20250422.002
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
Association study of ABCG2 and SLC2A9 gene polymorphisms with gout susceptibility in Mongolian and Han populations in Inner Mongolia
摘要
Abstract
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.关键词
痛风性关节炎/ABCG2/SLC2A9/单核苷酸多态性(SNP)/民族差异Key words
Gouty arthritis/ABCG2/SLC2A9/Single nucleotide polymorphism/Ethnic differences分类
医药卫生引用本文复制引用
杨丽娟,张智敏,吕新亮,李国华,高翔,王平乐,吴昊,董秋梅..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[J].海南医科大学学报,2026,32(4):248-257,10.基金项目
This study was supported by the Inner Mongolia Autonomous Region Science and Technology Plan Project(2020GG0194) (2020GG0194)
High Level Clinical Specialty Construction Technology Project of Public Hospitals in the Capital Region of Inner Mongolia Autonomous Region Health Commission(2023SGGZ058) (2023SGGZ058)
Inner Mongolia Medical University Campus Project(YKD2022LH080) 内蒙古自治区科技计划项目(2020GG0194) (YKD2022LH080)
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) (2023SGGZ058)
内蒙古医科大学校级项目(YKD2022LH080) (YKD2022LH080)