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Received:January 20, 2021 Published Online:May 20, 2021
Received:January 20, 2021 Published Online:May 20, 2021
中文摘要: 目的 探讨三磷酸腺苷结合盒转运蛋白G2(ABCG2)基因rs2231142(C>A)多态性与川东北汉族人群的痛风发病的相关性。方法 收集川北医学院附属医院风湿免疫科2015年11月至2017年4月就诊患者中诊断明确的原发性痛风性关节炎患者169例为研究对象,同时收集193例同期健康体检者作为对照组,TaqMan探针法实时荧光定量PCR检测受试者的基因型。将痛风组样本按照有无痛风石分为有痛风石痛风组与无痛风石痛风组;按照痛风发病早晚,分为早发性痛风组(<40岁)和晚发性痛风组(≥40岁)进行亚组分析。结果 (1)rs2231142(C>A)位点在两组研究对象中存在AA、CA、CC基因型。3种基因型及A、C等位基因在两组的分布频率差异有统计学意义(P<0.01)。与CC基因型比较,AA与CA基因型发生痛风的OR值分别为20.622和4.486。A等位基因发生痛风的风险是C等位基因的5.008倍。(2)119例痛风患者中,有痛风石患者14例。AA基因型及A等位基因在有痛风石痛风组分布频率显著高于无痛风石痛风组(P<0.01)。携带A等位基因发生痛风石的风险是携带C等位基因的4.500倍。(3)119例痛风患者中,早发性痛风组患者52例。AA基因型在早发性痛风组分布频率显著高于晚发性痛风组,CA基因型低于晚发性痛风组(P<0.05)。A等位基因与C等位基因在两组的分布差异有统计学意义(P<0.05)。携带A等位基因在40岁之前发生痛风的相对风险是携带C等位基因的1.698倍。结论 ABCG2 rs2231142(C>A)的多态性可能与我国川东北地区汉族人群原发性痛风的发病相关。AA基因型、A等位基因更易诱发痛风,发生痛风石并增加早发性痛风的发病风险。
Abstract:Objective To explore the association of adenosine triphosphate binding cassette transporter G2 (ABCG2) rs2231142 (C>A) polymorphism with gout susceptibility in han population of northeastern Sichuan.Methods (1)169 cases of primary gouty arthritis patients and 193 cases of healthy physical examination in the Affiliated Hospital of North Sichuan Medical College from November 2015 to April 2017 were enrolled into the study.TaqMan probe method real-time fluorescent quantitative PCR was used to detect the genotype of the subject.The gout group samples were divided into tophus gout group and no tophus gout group according to the presence or absence of tophi,and were divided into early-onset gout group (<40 years old) and late-onset gout group (≥40 years old) according to the onset of gout.Results (1)The rs2231142 (C>A) locus had AA,CA,and CC genotypes in the two groups.The difference in the distribution frequency of three genotypes and A /C alleles between the two groups was statistically significant (P<0.01 ).Compared with the CC genotype,the OR values of gout in the AA and CA genotypes were 20.622 and 4.486,respectively.The risk of gout for the A allele was 5.008 times that of the C allele.(2)Among 119 patients with gout,14 patients had tophi.The distribution frequency of AA genotype and A allele in tophus gout group was significantly higher than that in no tophus gout group(P<0.01 ).The risk of tophi with the A allele was 4.500 times that of the C allele.(3)Among the 119 patients with gout,52 patients were in the early-onset gout group.The distribution frequency of AA genotype and A allele in the early-onset gout group was significantly higher than that in the late-onset gout group (P<0.05 ).The relative risk of gout with the A allele before the age of 40 was 1.698 times that of the C allele.Conclusions The polymorphism of ABCG2 rs2231142 (C>A) may be related to the incidence of primary gout in the Han population in northeastern Sichuan.AA genotype and A allele are more likely to induce gout,develop tophi and increase the risk of early-onset gout.
keywords: Single nucleotide polymorphism Gout Adenosine triphosphate binding cassette transporter G2 Gouty arthritis Tophus Early-onset
文章编号： 中图分类号：R589.7 文献标志码：A
基金项目:国家科技部重点研发计划“精准医学研究”专项(2016YFC0903503);国家自然科学基金(81974250);四川省科技厅杰出青年基金(2016JQ0053);四川省教育厅课题(18ZB0216);川北医学院附属医院科研发展计划项目
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