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目的:研究PIN1基因启动子区-667C>T位点基因多态性与中国西北汉族人群慢性肾脏病(CKD)继发性甲状旁腺功能亢进(SHPT)的相关性。方法:应用聚合酶反应-限制性片段长度多态性(PCR-RFLP)技术检测252例CKD伴SHPT患者及61例健康体检者PIN1基因启动子区-667C>T位点基因型和等位基因频率。基因组测序法验证PIN1基因多态性。结果:CKD伴SHPT组和健康对照组间性别、年龄相匹配。CKD伴SHPT组估算的肾小球滤过率(eGFR)、血清钙显著低于健康对照组(P均<0.05);血清肌酐(SCr)、血清磷、全段甲状旁腺激素(iPTH)均显著高于健康对照组(P均<0.05)。CKD伴SHPT组PIN1基因启动子区-667T变异基因型(CT+TT)和T等位基因的频率均高于健康对照组(χ2=12.47,P<0.01;χ2=3.83,P=0.05)。-667T变异基因型(CT+TT)与PTH相关(OR=1.002,P=0.039),而与性别、年龄、SCr、血清钙、血清磷等指标均无相关。PIN1基因启动子区-667T变异基因型(CT+TT)可能是CKD伴SHPT的危险因素(OR=3.219,95%CI 1.643~6.037)。结论:中国汉族人群PIN1基因-667C>T多态性可能与CKD伴SHPT易感性相关。-667T变异基因型(CT+TT)可能是CKD伴SHPT的危险因素。
Objective: To investigate the association between the polymorphism of -667C> T locus in PIN1 gene promoter region and secondary hyperparathyroidism (SHPT) in chronic kidney disease (CKD) in northwestern China. Methods: PCR-RFLP was used to detect the genotype and allele of -667C> T in the promoter region of PIN1 gene in 252 CKD patients with SHPT and 61 healthy controls frequency. Identification of PIN1 Gene Polymorphism by Genomic Sequencing. Results: The gender and age of CKD with SHPT group and healthy control group matched. CKD with SHPT group estimated glomerular filtration rate (eGFR), serum calcium was significantly lower than the healthy control group (P all <0.05); serum creatinine (SCr), serum phosphorus, whole parathyroid hormone (iPTH) Significantly higher than the healthy control group (all P <0.05). The frequencies of CT + TT and T allele of PIN1 gene promoter region in CKD with SHPT group were higher than those in healthy control group (χ2 = 12.47, P <0.01; χ2 = 3.83, P = 0.05). -667T variant genotype (CT + TT) was correlated with PTH (OR = 1.002, P = 0.039), but not with gender, age, SCr, serum calcium and serum phosphorus. The -667T variant genotype (CT + TT) of PIN1 gene promoter may be a risk factor for CKD with SHPT (OR = 3.219, 95% CI 1.643-6.037). CONCLUSION: The -667C> T polymorphism of PIN1 gene in Chinese Han population may be related to CKD susceptibility to SHPT. -667T variant genotype (CT + TT) may be CKD risk factors with SHPT.