目的: 探讨ABCG2(rs2231142)等位基因分布与内蒙古地区男性高尿酸血症(HUA)的相关性。方法: 采用病例对照研究,选取2023年9月-2024年4月在包头市第四医院体检中心的男性体检人群408例,其中HUA组202例,非HUA组204例。采用KASP-竞争性等位基因特异性PCR技术进行基因多态性的检测。等位基因组间比较采用χ2检验,通过Logistic回归分析等位基因与男性HUA的关系。结果: ABCG2(rs2231142)位点G、T等位基因在HUA组的分布频率分别为65.3%、34.7%,而在非HUA组中的分布频率分别为71.8%、28.2%,其频率分布在两组间存在差异(P=0.047),其次要等位基因T与男性HUA存在关联性,携带等位基因T的男性相较于携带等位基因G的男性,患HUA的风险增加(OR=1.358,95%CI:1.005-1.836);对年龄的分层分析中显示,在40~60岁年龄段中的男性次要等位基因T与HUA发生相关,是该年龄段男性HUA发生的影响因素(OR=1.477, 95%CI:1.003-2.173)。结论: 内蒙古地区男性的ABCG2(rs2231142)位点T等位基因在HUA人群中占比相对较高,次要等位基因T会增加本地区男性患HUA的风险,且这种风险关联在40~60岁年龄段的男性中表现更为显著。
Objective: To investigate the relationship between ABCG2 ( rs2231142 ) allele distribution and hyperuricemia (HUA) in men in Inner Mongolia. Methods: A case-control study was conducted to select 408 males who underwent physical examination in the physical examination center of the Fourth Hospital of Baotou from September 2023 to April 2024, including 202 cases in HUA group and 204 cases in non-HUA group. KASP-competitive allele-specific PCR was used to detect gene polymorphism. The χ2 test was used for comparison between allele groups, and the relationship between allele and male HUA was analyzed by Logistic regression. Results: The distribution frequencies of alleles G and T of ABCG2 (rs2231142) locus in the HUA group were 65.3% and 34.7% respectively, while those in the non-HUA group were 71.8% and 28.2% respectively. There was a difference in the frequency distribution between the two groups (P=0.047). The minor allele T was associated with HUA in men, and compared with men carrying allele G, men carrying allele T had an increased risk of HUA (OR=1.358, 95%CI: 1.005-1.836). Stratified analysis of age showed that minor allele T was associated with the occurrence of HUA in men aged 40-60 years old, which was the influencing factor of HUA in men of this age group (OR=1.477, 95%CI:1.003-2.173). Conclusion: In the male population in Inner Mongolia, the T allele of ABCG2 (rs2231142) locus presents a relatively higher proportion in individuals with HUA. The minor allele T is associated with an increased risk of HUA in local males, and this risk association is more significant in men aged 40 to 60 years.
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