1Qingdao University, 38 Ningxia Road, Qingdao, 266003 China.
2Institute of Clinical Research, The Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003 China.
Hereditas. 2019 Jul 24;156:26. doi: 10.1186/s41065-019-0103-y. eCollection 2019.
One common ATP-binding cassette subfamily G member 2 (ABCG2) gene variant, which is encoded by the single nucleotide polymorphism (SNP) rs2231142, was identified to take an essential part in gouty arthritis. However, the relationship between rs2231142, gout comorbidities and therapeutic effect of allopurinol in Chinese Han male population is still unclear. Wherefore, this study explored into the association between ABCG2 SNP rs2231142 affecting common comorbidities and the therapeutic effect of allopurinol in Chinese Han male gout patients.
ABCG2 SNP rs2231142 and the gout comorbidities including nephrolithiasis and CKD were associated ( = 0.014 and = 0.026). Group CKD stage = 1 were significantly different from those in group CKD stage≥2 regarding genotypes of ABCG2 gene polymorphism, while they were not significantly different from those in group CKD stage≥3. Meanwhile, the genotypes of rs2231142 and allopurinol response were not significantly associated ( = 0.588).
ABCG2 rs2231142 may predict the risk of kidney comorbidities for Chinese Han male gout patients, but not allopurinol response.
一个常见的三磷酸腺苷结合盒亚家族 G 成员 2（ABCG2）基因变体，由单核苷酸多态性（SNP）rs2231142 编码，被确定在痛风性关节炎中起重要作用。然而，rs2231142 与痛风合并症以及别嘌醇在中国汉族男性人群中的治疗效果之间的关系尚不清楚。因此，本研究探讨了 ABCG2 SNP rs2231142 影响常见合并症与中国汉族男性痛风患者别嘌醇治疗效果之间的关系。
ABCG2 SNP rs2231142 与肾结石和 CKD 等痛风合并症相关（=0.014 和=0.026）。与 CKD 分期≥3 相比，CKD 分期=1 的患者 ABCG2 基因多态性的基因型存在显著差异，而与 CKD 分期≥2 的患者无显著差异。同时，rs2231142 基因型与别嘌醇反应无显著相关性（=0.588）。
ABCG2 rs2231142 可能预测中国汉族男性痛风患者肾脏合并症的风险，但不能预测别嘌醇的反应。
