关键词: 关键词 慢性肾脏病, 继发性甲状旁腺激素亢进, PIN1基因, 多态性, 单核苷酸

Abstract:

ABSTRACT Objective：To investigate the correlation of PIN1 gene promoter region -667C>T polymorphism with chronic kidney disease (CKD) secondary hyperparathyroidism (SHPT) of Chinese Han population in Northwest China. Methodology：A total of two hundred and fifty two non-dialysis CKD patients with SHPT were enrolled in this single center study. At the same time, 61 healthy volunteers were enrolled as control. The genotype and allele frequency of -667C>T site in PIN1 gene promoter were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The polymorphism of PIN1 gene was verificated by genome sequencing. Results：CKD SHPT group and the healthy control group were matched in gender and age. Patients with SHPT had higher levels of Scr, serum phosphorus, intact parathyroid hormone (iPTH) and lower levels of estimated glomerular filtration rate (eGFR), and serum calcium than that healthy control group (all P<0.05). PIN1 gene promoter -667T variant genotypes (CT+TT) and T allele frequency in CKD SHPT group were significantly higher than those in healthy control group (?2=12.47，P=0.000 <0.05；?2=3.83，P=0.05) . -667T variant genotypes (CT+TT) in patients with CKD SHPT were not related to gender, age, Scr, serum calcium, and serum phosphorus (all P > 0.05) except iPTH (OR=1.002, P=0.039). PIN1 gene promoter -667T variant genotypes (CT+TT) were the risk factor of CKD SHPT (OR=3.219, 95% CI 1.643 ~ 6.037). Conclusions：PIN1 gene promoter -667C > T polymorphism may be associated with the susceptibility to CKD SPTH. -667T varivant genotypes (CT+TT) are the risk factor of CKD SHPT in Chinese Han population in Northwest China.

Key words: chronic kidney disease, secondary hyperparathyroidism, PIN1 gene, polymorphism,  , single nucleotide